NORD study welcomes those with rare diseases to participate

Oregon State University is teaming up with the National Organization for Rare Disorders (NORD, rarediseases.org) in conducting a large-scale study about the “information and psychosocial support needs of people living with rare disorders.”  Only those with a rare disorder or undiagnosed rare condition may participate in this 40-minute online survey.  Caregivers are not eligible to participate at this time.

Within Brain Support Network, these three diagnoses are considered rare:

  • PSP (progressive supranuclear palsy)
  • MSA (multiple system atrophy)
  • CBD (corticobasal degeneration)

Of course, LBD (Lewy body dementia) is NOT a rare disorder.

If you are interested in participating, check out:

oregonstate.qualtrics.com/jfe/form/SV_7VEgG8kwTizenAN?platform=hootsuite

At the bottom of that webpage, click on the NEXT button to view the consent form and proceed to the study.

Robin

Notes from “Pain in Parkinson’s Disease” webinar

Though this webinar was focused on Parkinson’s Disease, nearly all of the information shared applies to those within Brain Support Network.

Last Tuesday, the Parkinson’s Disease Foundation (pdf.org) hosted a webinar on “Pain in Parkinson’s Disease.”  The speaker was Dr. Jori Fleisher, a movement disorder specialist with NYU Langone.

The slides from the talk are here:

www.pdf.org/pdf/slides_pdexpertbriefing_paininPD_010617.pdf

You can view the recording — which includes the 45-minute formal presentation plus a great 20-minute Q&A — here:

event.netbriefings.com/event/pdeb/Archives/pain2/register.html

You’ll have to register first.  Registration is free.

Brain Support Network super-volunteer Denise Dagan listened to the webinar and wrote up some highlights.  Of course you can find lots more details by viewing the slides or, better yet, by listening to the recording.  See Denise’s notes below.

Robin

————————-

Notes from Denise Dagan

Pain in PD
Parkinson’s Disease Foundation Webinar
January 10, 2017

Dr. Jori Fleisher spoke for 45 minutes + 20 minutes of Q&A on these points:

Pain is common, under-recognized, under-reported, detrimental and manageable as a non-motor symptom of Parkinson’s disease.  By detrimental, she meant pain can keep you from exercising, thereby worsening stiffness, contractures, and balance, potentially falling and resultant injury.

Early, asymmetric stiff or painful shoulder (hip or knee) is a common, often misdiagnosed presenting symptom of Parkinson’s disease.  Talk with your neurologist or movement disorder specialist before you get surgery.

There are four categories of pain.  More than one may be present in Parkinson’s disease.

1. Musculoskeletal pain is most prevalent (45-75% of patients) and involves muscle cramps, tightness (especially in the neck), paraspinal (on either side of the spine), or joint pain (distinct from arthritis in unilaterality & lack of inflammatory changes).

2. Dystonic pain (8-50% of patients) is caused by both sides of a limb’s muscles spasming simultaneously.  It can occur early in Parkinson’s disease, even as a presenting symptom, or as a complication of treatment, either as an early morning off-dystonia or at the peak of medication effectiveness, especially in the neck and face.

3. Radicular or Neuropathic pain (5-20% of patients)

* Radicular pain is caused by a pinched nerve due to a herniated disk in the spine which may be due to postural abnormalities or dystonia.  Physical therapy should be tried to remedy those postural changes brought about because of Parkinson’s disease.

* Peripheral Neuropathy refers to the bottoms of feet or fingertips and occurs more often than expected in Parkinson’s disease.  It is potentially related to dopaminergic therapy.

4. Central pain (10-12% of patients) is hard to describe, vague, constant, not localized to a specific nerve distribution.  It may have autonomic or visceral character in some Parkinson’s patients and present as reflux, labored breathing, or feeling flushed in the oral or general areas.

In communicating your experience of pain to your neurologist, consider using the OLD CARTS reference to be thorough.  Doctors can’t help at all if they don’t have specific information.  OLD CARTS stands for:

* Onset  (when did it start?)

* Location  (where does it hurt?)

* Duration  (how long does it last?)

* Character  (how does it feel?  Sharp, tired muscle, nauseating, etc.)

* Aggravating and alleviating factors  (exercising, resting, pain killers, next PD med dose, postural changes?)

* Radiation  (does it travel along the nerves from the point of origin?)

* Timing  (especially in relation to when you take your meds., mornings, after exercise or prolonged sitting)

* Severity  (completely pain free or child birth on a scale of 1-10)

Pain management in Parkinson’s disease requires attention to timing, quality of the pain, and relation to medication doses.  So, keep a diary of when you actually swallowed your medication and answer all the OLD CART questions in your diary with respect to your pain.  This should give your doctor enough information to determine how to help.

Multidisciplinary, customized approach to each patient’s pain should include:

– Physical therapy and exercise to improve mobility, prevent contractors, maintain range of motion.

– Pharmacotherapy tailored to the particular pain type(s).  May require adjusting Parkinson’s medications and/or adding anti-inflammatories, anti-depressants, anti-epileptics, or opiates, depending on the type and cause of pain.

– There are no proven benefit for medical marijuana or other alternative treatments (yet).  In fact, the effects of using marijuana include low blood pressure, dizziness, hallucinations, sleepiness, and confusion, which are similar to Parkinson’s symptoms and Parkinson’s medication side effects, so marijuana is not a recommended alternative therapy for any symptoms of Parkinson’s disease, including pain.

2017 Brain Support Network Caregiver-only Support Group Meeting Dates Set

One of Brain Support Network’s three missions is to coordinate the Northern California caregiver-only support group for those who have family members or loved ones with a diagnosis of one (or more) of four disorders:

  • LBD (Lewy body dementia).  This disorder is also called Dementia with Lewy Bodies or Parkinson’s Disease Dementia.
  • PSP (progressive supranuclear palsy)
  • MSA (multiple system atrophy)
  • CBD (corticobasal degeneration). This disorder is also called corticobasal syndrome.

These four neurodegenerative conditions have much in common.

We also welcome those who have family members with an atypical parkinsonism or Parkinson’s Plus diagnosis.

We have established our 2017 caregiver-only support group meeting schedule.  As always, we will be having nine meetings this year.

If you’d like to be added to the support group meeting reminder email list, please contact us and let us know what disorder you are coping with and which loved one has the diagnosis.

WHO IS INVITED

All caregivers are invited — primary, secondary, those giving hands-on care, those managing care, and those giving emotional and informational support.

Newcomers, casual visitors, and longtime attendees are all welcome!

Former caregivers — those whose loved ones have already passed away — regularly attend; these people have been through it all and are invaluable resources to those learning to cope.

If you are an active caregiver with a loved one at home, consider asking for a “respite care grant” from your county’s agency on aging or from your local caregiver resource center (see caregiver.org/californias-caregiver-resource-centers).  Such grants pay for a caregiver to be in your home while you attend support group meetings.  The local chapter of the Alzheimer’s Association (alz.org/norcal) also offers respite grants for those dealing with dementia.

We occasionally have guests.  Guests have included a neurologist, a family consultant from Family Caregiver Alliance, the president of the board of the Lewy Body Dementia Association, the co-founder of the LBDA, and the moderator of the PSP Forum.

HOW IT WORKS

We generally sit at one very large table, grouped by disorder.  For the last several years as our numbers have grown, some of the meeting regulars (one or two for each disorder) have become discussion facilitators.  They include:  Phil, Cristina, Ellen, and Sharon (PSP), Candy, Karen L., and Lily (MSA), Dick, Mindy, Val, and Cheryl (CBD), and Dianne, Alexa, and Bari (LBD).

We manage a lending library where books, DVDs, and videos get passed around.  And often at meetings group members bring items to give away.

SUPPORT GROUP DIRECTORY

At the beginning of 2012, BSN Board member Phil Myers suggested distributing a sign-up list so as to facilitate sharing contact info for anyone interested.  Phil emails out the updated directory after each meeting; it includes all the people who have attended a meeting in the past three years.  For privacy reasons, only those who are on the list may receive a copy.

RSVP PROCESS

One week before each caregiver support group meeting, we send out an email reminder and ask for RSVPs.  This reminder comes from the “BSN Support Group” email address.

If you’d like to be added to the support group meeting reminder email list, please contact us and let us know what disorder you are coping with and which loved one has the diagnosis.

CAN’T ATTEND OUR MEETINGS

If you don’t live in Northern California or aren’t able to attend our meetings, feel free to join our email lists.

Also, check out our webpage about online or phone-based support groups.

Support is critical!

Robin

 

Very brief overview of five Parkinsonian syndromes

On Kaiser’s website, there’s a very brief overview of five Parkinsonian syndromes – progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB), and vascular parkinsonism.  The first four are the focus on Brain Support Network’s local support group and educational materials.

I’ve copied the short overview below.  It’s odd that there’s so little on PSP yet there’s a lot on CBD, which is quite rare.
Robin
————————-
Parkinsonian Syndrome
Kaiser Northern California Website

Overview
Up to 20 percent of patients with clinical features resembling Parkinson’s disease actually have a Parkinsonian syndrome. They can be referred to as “atypical Parkinson’s” or “Parkinson’s plus.” These syndromes are clinically differentiated from “classic” Parkinson’s disease because they respond less reliably to medications and tend to progress more quickly.

Symptoms and Diagnosis
We might suspect that you have atypical Parkinson’s if you:

* Do not respond robustly to levadopa or dopamine agonists.
* Do not have a significant tremor.
* Experience early loss of balance.
* Have disproportionate rigidity.
* Experience prominent early speech difficulty and/or difficulty swallowing.
* Exhibit symptoms that progress rapidly.

We make a diagnosis based on your history, symptoms and physical examination. There are no tests or imaging studies to confirm a diagnosis.

Types
Progressive supranuclear palsy (PSP)
PSP is characterized by early onset of balance problems, frequent falls, and (eventually) eye movement problems.

Corticobasal degeneration (CBD)
People with corticobasal degeneration experience nerve cell loss and shrinkage (atrophy) throughout the brain.  CBD is a rare progressive disorder marked by the following symptoms:

* Rigidity.
* Cramping and spasms of limbs that lead to painful unnatural positions.
* Uncontrolled movement of limbs combined with a feeling that the limb does not belong to you.
* Sudden muscle jerking.
* Early cognitive impairment.

Multiple system atrophy
Multiple system atrophy (MSA) is a neurodegenerative disease characterized by a variety of symptoms affecting movement, blood pressure, and other body functions.  Hence the label “multiple system” atrophy. All patients will exhibit some motor symptoms similar to Parkinson’s disease. However, most patients will develop additional symptoms.

In the Shy-Drager form of MSA, the most prominent symptoms are blood pressure control and urinary dysfunction. The Striatonigral Degeneration form of MSA is characterized by severe rigidity and may not respond to typical dopamine medications. The Olivopontocerebellar Atrophy form of MSA causes increased lack of muscle coordination, balance problems and speech difficulties.

Dementia with Lewy bodies
Lewy bodies are abnormal collections of protein that develop inside nerve cells. In Parkinson’s disease, patients do have Lewy body formations but only in select areas of the brain. When Lewy bodies are found throughout the brain, the patient is given the diagnosis of Dementia with Lewy Bodies.

Lewy bodies can only be confirmed by a post-mortem biopsy of the brain. For this reason, we use the patient’s clinical history to make a diagnosis. Symptoms we look for include fluctuating confusion, visual hallucinations, rapid cognitive decline and some motor symptoms of Parkinson’s disease. Patients with Dementia with Lewy Bodies do not respond to dopamine medication.

Vascular Parkinsonism
Multiple small strokes deep within the brain can cause symptoms that are similar to Parkinson’s disease. Patients with this disorder are more likely to experience difficulties with walking rather than tremor and they are more likely to have symptoms that are worse in the lower extremities than upper extremities.

Treatment focuses on preventing further strokes. Anti-platelet agents, such as aspirin, anti-cholesterol medications, along with treatment of high blood pressure, healthy diet and exercise, and cessation of smoking can significantly reduce the risk of future strokes.

“Pain in PD” webinar, Tues, Jan 10th, 10am CA time

This Parkinson’s Disease Foundation (pdf.org) webinar on Tuesday January 10th may be of interest to those in Brain Support Network who are coping with pain.  The slides for the webinar are already posted to the PDF website.  If you are interested in the webinar but cannot attend live, I encourage you to sign up.  Within a few days of the webinar, you will receive an email giving you a link to the recording.

Details are below.

Robin


Parkinson’s Disease Foundation (PDF) Webinar

Pain in PD
Tuesday, January 10, 2017
Start time:  10am California time
Duration:  One hour

Do you experience pain as part of your Parkinson’s disease (PD)? Are you looking for ways to better manage it? Learn more by joining a one-hour online seminar led by PDF and Jori E. Fleisher, M.D., M.S.C.E., Assistant Professor of Neurology and Population Health, The Marlene and Paolo Fresco Institute for Parkinson’s and Movement Disorders at NYU Langone.

Learning Objectives:
* Understand how common pain is in Parkinson’s disease
* Be able to identify and describe the different types of pain commonly experienced in Parkinson’s
* Learn about current treatments for pain in PD, including both pharmacological and non-pharmacological options

Sign Up Now:
event.netbriefings.com/event/pdeb/Live/pain2/register.html

Preview Seminar Slides (may take several minutes):
www.pdf.org/pdf/slides_pdexpertbriefing_paininPD_010617.pdf

Problems families dealing with dementia may face

I recently stumbled across the website, patient.info, which is a resource for UK physicians about various disorders.  The website contains a helpful page about caregiving for someone with dementia.  Though it is written with physicians in mind (ie, how physicians can be supportive of families), I think the page provides a good summary for laypeople as well.

In addition, I think much of this article applies to caregivers who are NOT dealing with dementia.  Much of the information and advice is generic.

Here’s a link to the full article:

patient.info/doctor/supporting-the-family-of-people-with-dementia

Supporting the Family of People with Dementia
Patient, a UK organization
Last reviewed May 2014

Note that in the UK “caregivers” are referred to as “carers.”  (It’s a superior term in my mind.)

Robin

Expert Physical Therapist – Fall Prevention, etc. (Highlights of 48-min Video)

This email is of general interest to those in our Brain Support Network.

Though this talk by a physical therapist was delivered at a CurePSP family conference in Canada (mostly PSP and CBD families in the audience), all of the disorders in our BSN group will find value in this talk.

The speaker is Joellyn Fox, DPT, a movement disorder specialist physical therapist at the University of Pennsylvania.  Her focus is offering practical tips to preventing falls and keeping moving to “improve everyday life.”

You can find the December 2015 talk by Joellyn Fox, DPT, on YouTube here:  (48 minutes)

youtube.com/watch?v=0kz8ZqJHDVM&t=508s

BSN volunteer extraordinaire Denise Dagan recently watched the video and wrote down a few highlights, which are below.  Denise encourages everyone to watch the video, however!

Robin

———————–

Methods to Improve Everyday Life
By Joellyn Fox, DPT, University of Pennsylvania
CurePSP Family Conference, Canada
December 4, 2015
48 minutes

Highlights by Brain Support Network volunteer Denise Dagan

Ms. Fox prefers to begin working with people the moment they realize there has been a change in their movement.  She calls this ‘prehabilitation.’  Clever, but her point is that until there’s a problem we don’t think about how we move.  Once there is a problem, she believes it is best to start motor learning and conscious movement training right away to prevent loss of balance and falls.

With Parkinson’s disease and parkinsonisms there develops a motor-sensory disconnect.  To compensate for that, one needs to:
– Think before moving
– Move with larger movements
– Finish one part of a task before moving on to the next by breaking tasks into parts.

For example; sitting requires approaching a chair, turning, and lowering oneself onto the seat.  When each part is done with thought, the risk of falling, sitting on the arm, or dropping onto the seat is minimized.

People with Parkinson’s often feel as if their ability to move has been lost, particularly when they suffer from freezing.  In actuality, it is a problem of activating the motion due to motor-sensory disconnect.  Compensating for this is primarily done through the use of cues to activate movement and improve gait quality.

Cueing the activation of movement can be internal (mental reminders, imagination) or external (verbal, visual or audible reminders, signs around the house, etc.).  Examples include:

– tape on the floor: to line up in front of a chair or bed before sitting, to step over going through doorways, etc.

– laser lines: light is emitted from the bottom of a cane (e.g. UStep laser cane) to break freezing and increase stride

– metronomes: help overcome freezing and maintain a regular pace or prevent slowing of stride.

Free apps are available for smartphones, even blue tooth so others can’t hear them.

– imagination: pretending to step over or on something that isn’t there (like step on a bug or over a threshold).

– tactile stimulation: tapping on the foot that’s frozen can often get it moving, or tapping on the side that needs to take the next step.

– RAS (Rhythmic Auditory Stimulation): People tend to step in time with music, whether they have Parkinson’s disease, or not.

Ms. Fox’s FOG (Freezing of Gait) Strategies start with the 4 S’s:
– Stop
– Stand tall
– Shift weight
– Step big

The key is to unweight one foot and make the next step a big one.  The cue in a physical therapy appointment is her saying, “Stop,” but remembering to say it to yourself is an internal cue, which doesn’t work for most people.  A solution at home can be STOP signs around the house where freezing often occurs (an external cue).

The rest of her FOG Strategies include:

For areas in the home (doorways, around furniture, etc.)
– Destination Estimation: estimate the number of steps to a destination and try to keep to just that many.  Works well for elevators because there is some anxiety over beating the door close.  Estimate 4 steps, take them big, and you’re in!
– Look through a doorway to the wall ahead.
– Stop, and step big over the threshold

For crowds (elevators, escalators, church, concerts, trains & buses)
– Allow others to go ahead of you to blaze a trail, and follow in their wake
– Move to the side of the crowd or against a wall and follow around the edge of the group

Turns require learning new techniques because you’re probably used to leading with your shoulders, but that causes legs to cross and may result in falling.  Instead, Ms. Fox offers specific techniques for maintaining balance while turning in both open areas and tight spaces.

Ms. Fox also spoke about retropulsion, backward balance loss with reduced step size and increased cadence, and festination, forward gait with increased step cadence, a.k.a. “runaway train.’  She listed several specific triggers and preventions for both.

Ms. Fox made the point that moving doesn’t have to be boring or tedious, even during your physical therapy appointment.  You want a therapist with that same attitude.  Her last slide has several research based movement options shown to benefit people with Parkinson’s disease.  Pick some and keep moving!

Lastly, Ms. Fox offers some specific tips for caregivers to to help steady someone with Parkinson’s disease while walking together, as well as minimize quarrels about nagging over posture or gait.

To find a physical therapist close to you, start with these resources:

– Look for therapists with experience working w/people who have Parkinson’s disease & parkinsonisms

– National Parkinson Foundation : Centers of Excellence
parkinson.org/Improving-Care/NPF-Network/NPF-s-Center-of-Excellence-Network-%281%29

– LSVT BIG Certification (Lee Silverman Voice Treatment, limb movement training)
Isvtglobal.com/clinicians

– Parkinson’s Wellness and Recovery
pwr4life.org

Educational video for neurologists – diagnosing (mostly) and treating PSP, CBS, MSA, and DLB

This 60-minute video was put together by CurePSP with the main goal to educate general neurologists on differentiating Parkinson’s Disease from the four atypical parkinsonism disorders – PSP, CBD, MSA, and DLB.  A CurePSP letter with a link to the YouTube video was sent out to 14,000 general neurologists in the US in May 2016.  Though the YouTube video was produced for neurologists, I found it understandable and think most of you will as well.

If you are seeing a general neurologist — not a movement disorder specialist and not a dementia specialist — my suggestion and request is that you share this email with the general neurologist.  Encourage him/her to spend 60 minutes to gain some additional info on diagnosis, evaluation, pathology treatment, care pathology, and prognosis of the four atypical parkinsonism disorders.

Be sure to explain to your general neurologist the resources and services of Brain Support Network — we have local support group meetings in Northern California, email lists focused on the atypical parkinsonism disorders, and that we help people nationally with all neurodegenerative diseases with brain donation.

For everyone viewing this post, my suggestion is that you skip to the last ten minutes of the video and listen starting with the medication management section.  Most of you are beyond the diagnosis so reading about the symptoms, how to diagnose, imaging, and the pathology is probably less interesting.

This video is a great service to general neurologists.  And probably primary care physicians and other healthcare professionals as well.  It’s unfortunate that the four atypical parkinsonism disorders are compared to Parkinson’s Disease ONLY but that is the context of this educational video.  It was made by movement disorder specialists.  As a point of reference, no one would’ve thought my father had Parkinson’s Disease.  Alzheimer’s Disease seemed far more likely in his case but a video that compares PSP to Alzheimer’s ONLY wouldn’t be 100% right either.  We need better “blending” of the movement disorder communities and the memory disorder communities!

I’ve copied below some notes on the 60-minute educational video.  This is definitely not a transcript.  In many places, I say “see slide.”  But the notes at least give you the time markers and some idea of what is discussed at certain times.

By the way, I’ve heard great things about Dr. Stephen Reich, the main speaker in the video.  He’s been part of the PSP/CBD community for many years.  One of the other authors of the educational presentation is Dr. Alexander Pantelyat, a movement disorder specialist from Johns Hopkins I’ve had the pleasure of meeting at conferences.  The third author of the presentation is Dr. Shawn Smyth, who shares some helpful videos of specific symptoms as part of this larger video.

If you learn anything, let me know!  Or, if your general neurologist wants to know more about any of these disorders or get involved with Brain Support Network, let me know!

Robin



www.youtube.com/watch?v=BtEiNlivgeI

Atypical Parkinsonian Disorders
60-minute tutorial for general neurologists
Produced by CurePSP, May 2016

Slide set put together by:
Stephen Reich, MD, University of Maryland
Shawn Smyth, MD, Parkinson’s and Movement Disorders Center of Maryland and Johns Hopkins University
Alexander Pantelyat, MD, Johns Hopkins

DIAGNOSIS

The importance of a correct diagnosis:
* avoiding repeated consultations, testing, and/or hospitalizations
* avoiding unnecessary diagnostic testing
* providing accurate prognostic information
* directing patients and families to appropriate resources/networking/clinical trials
* trying treatment strategies/care that may provide helpful

Parkinsonism is NOT Parkinson disease
* ParkinsonISM is a general term to describe movement (motor) problems that commonly appear together in certain illnesses
* The term parkinsonism comes from Parkinson’s disease, but these problems are also seen in other disordres
* The four main motor symptoms of parkinsonism: bradykinesia (slowness of movement), rigidity, tremor (rest), postural instability and gait dysfunction.
* Not everyone with parkinsonism has Parkinson’s disease though the majority do.

Differential diagnosis of parkinsonism in a flow diagram:
* 80% have primary parkinsonism or degenerative disease.  This breaks down as Parkinson’s disease (majority), atypical parkinsonian disorders, and heredo-degenerative parkinsonian disorders.
* 20% have secondary parkinsonism.  This breaks down as other brain conditions — vascular, hydroencephalic, infectious, traumatic, etc — or systemic etiologies — hypothyroidism, meds, toxins, etc.

(4:38) Degenerative causes of parkinsonism

More common presentations:
* Parkinson disease
* Atypical parkinsonian disorders
– progressive supranuclear palsy
– multiple system atrophy
– corticobasal syndrome
– dementia with Lewy bodies/diffuse Lewy body disease

Rarer presentations:  (this isn’t a complete list)
* frontotemporal dementia with parkinsonism (FTD-P)
* Alzheimer disease
* spinocerebellar ataxias (SCAs, often types 2, 3, 17)
* basal ganglia calcification (sporadic and inherited)
* Huntington’s disease (juvenile presentation)+
* Wilson disease (<50 years old)+
* acquired hepatolenticular degeneration

+ often have parkinsonism, dystonia, and tremor

Up to 25% of those who were thought to have Parkinson’s disease upon autopsy were found to have an alternative diagnosis.  The most common alternative diagnosis is another form of parkinsonism.  The most common of these are PSP, MSA, CBS, or DLB.

Degenerative parkinsonism and accumulating intracellular proteins
Synuclein:
* In Lewy bodies: PD and DLBD
* In glial cytoplasmic inclusions (GCIs): MSA
Tau:
* PSP, CBD, FTDP-17, Parkinson dementia complex of Guam

Secondary causes of parkinsonism
* Vascular: lower-half (waist down) parkinsonism; multi-infarct state; TIA history; step-wise progression; MRI scan indicative
* Hydrocephalus
* Space-occupying mass/lesion
* Endocrine (hypothryoid slowness)
* Toxic: manganese, carbon monoxide, cyanide, MPTP, carbon disulfide
* Drug-induced:  dopamine-receptor blockers (first and second generation antipsychotics; antiemetics, including Reglan); anticonvulsants/mood stabilizers (valproic acid, lithium); antiarrhythmics (amiodarone).  Most important category here.  Physicians are not very good at recognizing drug-induced parkinsonism.  This can last for a number of months, even a year, after the drug has been stopped.  It’s important to take a good drug history.
* Post-encephalitic
* Post-traumatic

(8:15) Steps to making a diagnosis
(See the slide)

Usually on PD and CBS are asymmetric.

Are there any symptoms that don’t fit with Parkinson’s?

Very important to take a careful drug history.

Atypical parkinsonian syndromes don’t respond at all to levodopa or have a short-lived response.  In PD, we are reassured that there’s a sustained response to levodopa over five years and when the patient develops dyskinesia.

(10:18) Dementia is typically a late symptom in PD.  If the symptom is early, this would suggest it’s not PD.

(10:36) PD diagnostic criteria – UK PD Society Brain Bank Criteria (Hughes et al, JNNP; 55: 181-184)
(See the slide)
Must have bradykinesia (slowness of movement)
Must have one or more of rigidity, tremor at rest, or postural instability but not at onset

In PD, postural instability usually begins 5-7 years in.

Patients with PD almost always survive ten years and often many more years than that.

(13:30) Atypical parkinsonian disorders
* Often confused with PD, AD, and other dementias
* Clinical diagnostic criteria for PD, AD, and the atypical parkinsonian disorders have imperfect sensitivity and specificity
* Diagnosis is made clinically as all diagnostic studies only support clinical suspicion
* ONLY WITH FOLLOW-UP can many “red flag” features be identified to improve diagnostic accuracy.  Ask about these at each visit.

(15:15) PD vs. atypical parkinsonian disorders (from Quinn, JNNP suppl: 78-89)

Clues for PD: asymmetric onset of movement dysfunction; significant and sustained benefits to dopaminergic medications (though tremor may not respond); classic resting tremor (or unilateral pill-rolling tremor)

Note: those with MSA may have a low-amplitude somewhat jerky postural tremor of the fingers or hand.

Clues for atypical parkinsonian disorders (PSP, CBS, MSA, DLB): fairly symmetric onset of movement dysfunction (except CBS which is highly asymmetric); poor, transient or no benefit to dopaminergic medications

Red flags to atypical parkinsonian disorders: few are absolute; may not be present at presentation so re-evaluate for these at every visit

(17:20) ALERT for Atypical Parkinsonian Disorders

ALERT is a helpful acronym for approaching these syndromes.

A= atypical for Parkinson disease
* apraxia and/or myoclonus (CBS or AD with parkinsonism)
* saccade changes (slow saccades or vertical ophthalmoplegia is PSP, delayed/apraxic in CBS, and hypermetric in MSA)
* parietal/sensory dysfunction (extinction, cortical sensory loss, alien limb in CBS)
* cerebellar or upper/lower motor neuron signs (MSA)
* certain types of dystonia or dyskinesia:
– retrocollis, blepharospam/eyelid opening “apraxia” or trunk dystonia in PSP
– anterocollis or levodopa-induced facial/oral dyskinesias in MSA
– limb dystonia in CBS or MSA
* faster progression, including “wheelchair sign” (early use of wheelchair – within 3-5 years)

L= lack of response to medications (poor, transient or no benefit to an adequate trial of levodopa – 1000mg/day).  One small exception, if tremor-predominant PD, a trial of 1000mg/day may not be warranted.

E= early (compared to PD):
* falls/postural instability (PSP)
* dysphagia, dysarthria, bulbar dysfunction (PSP, MSA)
* dementia, executive dysfunction, impulsivity, apathy, personality change, or pseudobulbar affective lability (DLB, CBS, PSP)
* hallucinations/delusions (DLB)
* autonomic dysfunction such as constipation and orthostatic hypotension (MSA)

R= refer to resources (second opinion to movement disorder specialists, physical/occupational/speech and swallow therapy – ancillary services become mainstay of treatment; CurePSP)

T= treat symptomatically (even when unsure of the diagnosis)

(23:13) Autonomic dysfunction
(See slide for a list of symptoms/features)

Patients with orthostatic hypotension may not have lightheadedness but may have fatigue, confusion, visual blurring, and the “coat hanger sign.”

Those with erectile dysfunction rarely voice this to the physician.

These are problems that can often be treated and are disabling.

PROGRESSIVE SUPRANUCLEAR PALSY – symptoms, variants, imaging, pathology

(25:01) Progressive Supranuclear Palsy
(see slide)

Bradykinesia tends to be axial.  Difficulty getting up from a chair.  Or getting back into a chair.  Tremor is uncommon.

Rigidity is axial.  Rigidity is often at neck.

Supranuclear palsy – both up and down.  Key diagnostic feature.  Slow vertical saccades – this can be found before supranuclear palsy.  (26:00 – video and audio out of synch for several seconds.)  Frequent saccadic instrusions.

Retrocollis.

Prominent bulbar dysfunction early on.

Frontal dysfunction.  Prominent apathy.  Executive dysfunction.  Impulsivity.  Applause sign – shows perseveration (from frontal lobe dysfunction); not specific to PSP; rarely seen in PD.

(28:18) PSP Variants (from Williams & Lees, Lancet Neurology 2009.  from Dickson et al, Curr Opin Neurol 2010)

PSP-Richardson syndrome: classic presentation; accounts for only approx 25% of PSP pathology; originally described in 1964 by John Steele, who is still living, Richardson, and neuropathologist Olszewski

PSP-Parkinsonism: can have tremor and partial/temporary levodopa response (similarities to Parkinson disease); more benign course than PSP-RS; nearly as common as PSP-RS

PSP-CBS
PSP-Nonfluent Aphasia
PSP-Frontotemporal dementia
PSP-Pure Akinesia with Gait Freezing
Mixed pathologies

(29:50) Imaging features of PSP
(see slide)
Hummingbird/penguin sign in midbrain
Morning glory sign

(30:24) Pathological changes of PSP
(see slide)

CORTICOBASAL SYNDROME – symptoms, variants, imaging, pathology

(31:05) Corticobasal Syndrome
(see slide)

Corticobasal Degeneration now used for pathological confirmation.  During life, we call this corticobasal syndrome.  Only about 50% of those diagnosed with CBS during life are found to have CBD upon autopsy.  30% have Alzheimer’s pathology.  20% have Lewy body pathology.

Often presents unilaterally.

Important to see a saccade.

May present with early frontal dementia.

(33:21) CBS Variants (from Armstrong et al, Neurology 2013)
PSP Syndrome
Frontal-behavioral spatial syndrome
Nonfluent/agrammatic Primary Progressive Aphasia
Mixed Pathologies (with Parkinson Disease, with Dementia with Lewy bodies)

[Robin’s note: Isn’t “corticobasal syndrome” a variant??]

(34:00) Imaging features of CBS
(see slide)

(34:13) CBD Pathology
(see slide)

MULTIPLE SYSTEM ATROPHY – symptoms, imaging, pathology

(34:37) Multiple System Atrophy
(see slide)

MSA subtypes: MSA-P and MSA-C.  All patients have to have dysautonomia (orthostatic hypotension or a combo of urinary incontinence and, with men, erectile dysfunction).

(36:15) Red flags suggesting MSA
(see slide)

Anterocollis

Inspiratory stridor or expiratory sighs

Pseudobulbar affect

(38:00) Imaging features of MSA
(see slide)

Hot cross bun sign

(38:15) MSA Pathology
(see slide)

DEMENTIA WITH LEWY BODIES – symptoms

(38:51) Dementia with Lewy Bodies/Diffuse Lewy Body Disease
(see slide)

Symmetric parkinsonism (often no tremor) with early dementia

Pseudo-delirium

Sensitive to antipsychotic medication

Greater extent of Lewy bodies in brain (especially in cortex)

GENERAL

(40:32) Overlapping symptoms in neurodegenerative disorders
cognitive – emotional – sleep/wake cycle – autonomic – sensory – movement

(41:30) Non-motor symptoms
(see slide)

cognitive – emotional – sleep – fatigue – autonomic – sensory

These can be very disabling.

VIDEOS THAT ILLUSTRATE SYMPTOMS

(43:00) Shawn Smyth, MD presents some videos that illustrate symptoms, which are useful during evaluation and diagnosis.

Woman with anguished look with PSP.

(43:20) Evaluating saccades in woman with PSP.  Evaluating optokinetic nystagmus.

(44:24) Evaluating retropulsion in PSP.

(44:37) Evaluating rigidity in neck and arms in PSP.

(44:50) Evaluating bradykinesia of PSP (unusual).

(45:40) Applause sign in PSP.

(46:04) Clenched-fist dystonia with irregular postural tremor in CBS.

(46:24) Asymmetric bradykinesia and lefthand dystonia in CBS.

(46:36) Apraxia in CBS.

(47:10) Squeaky hypophonia and dysarthria in MSA.

(47:29) Cerebellar signs in MSA.

(48:10) Wide cadence and irregular gait in MSA.

ANCILLARY TESTING

(48:27) Stephen Reich, MD discusses ancillary testing
(see slide)

MRI is worthwhile unless the patient seems to be classic for PD

DaT scan cannot distinguish between any of the PD and atypical parkinsonian disorders

Not challenging: distinguishing between PD and essential tremor.

Routine lab tests: vitamin B12, thyroid

MEDICATION MANAGEMENT

(51:09) Medication management of these syndromes
* Levodopa: test 1000mg/day immediate release (optimally received on an empty stomach during the waking part of the day)
* Cholinesterase inhibitors (rivastigmine) in DLB
* Quetiapine or clozapine for hallucinations, delusions or agitation, used cautiously
* SSRIs or TCAs for depression or anxiety.  Beware of medication interactions with other antidepressant, antipsychotic, or dopaminergic.  Shy away from TCA if constipation or OH is present.
* Levetiracetam or clonazepam for myoclonus, especially in CBS
* Try non-pharmacologic approaches to orthostatic hypotension first.  Review meds that might contribute to low BP.  Adequate salt intake.  Avoid hot baths/showers.  Lots of water.  Fludrocortisone, midodrine, droxidopa, or pyridostigmine for orthostatic hypotension.  Stockings, head of bed elevation, and abdominal binders can be considered.
* Botox injections for sialorrhea, dystonia, and blepharospasm/apraxia of eyelid opening

The atypical parkinsonian syndromes are NOT untreatable.  Medication does play a small role.

SUPPORTIVE MEASURES

(53:40) Supportive Measures
PT, OT, speech/swallow therapy
Social work/case management consultation
Support groups for patients/families, in-person or online
Palliative care

PSP MANAGEMENT

(54:18) Management of PSP
(see slide)

Trial of levodopa up to 3 months.  Taper or discontinue if unsuccessful or not tolerated.

Weak evidence for amitriptyline and amantadine.

He prefers UStep walker.

CBS MANAGEMENT

(55:22) Management of CBS
(see slide)

Try levodopa if significant bradykinesia.

Consider cholinesterase inhibitors for cognitive impairment

MSA MANAGEMENT

(55:50) Management of MSA
(see slide)

If MSA-P, judicious trial of levodopa.  Watch that orthostatic hypotension isn’t worsened.

See a urologist.

Not many therapies for MSA-C.

DLB MANAGEMENT

(56:42) Management of DLB
(see slide)

Not very responsive to levodopa but worth a trial.  Watch that mental status isn’t worsened and hallucinations aren’t caused.

Cholinesterase inhibitors can be helpful.  Worth trying them plus memantine.

Avoid antipsychotics unless necessary.

PROGNOSIS

(57:32) Prognosis for atypical parkinsonian syndromes

* Quite different from PD, where there’s a normal lifespan.  Cause of death is often unrelated to PD.
* Highly variable
* Most common causes of death due to disease itself — complications of immobility (DVT, infections with spesis), dysphagia (aspiration pneumonia), or injury from falls
* Generally have a lifepsan of <10 years from onset of symptoms, with variability.  Usually 6-10 years.

CONCLUSIONS

(58:15) Conclusions

* Atypical parkinsonian disorders have protean manifestations and can be challenging to diagnose at the front end

* ALERT acronym:
A= atypical for Parkinson disease
L= lack of response to medications
E= early falls, cognitive impairment, personality change, autonomic dysfunction (pay close attention to non-motor symptoms)
R= refer to resources (movement disorder specialists, CurePSP)
T= treat symptoms (even if you don’t have a diagnosis yet)

* It is important to consider these disorders in all middle aged or older patients, as early detection can improve quality of life for the patient and their caregiver/family

* Supportive care and a variety of symptomatic therapies can be offered.  Pay particular attention to the caregiver throughout the disease.

RESOURCES

(58:48) Resources

CurePSP, curepsp.org
AFTD, theaftd.org
ClinicalTrials.gov

[Robin adds: Brain Support Network, brainsupportnetwork.org – educational materials on PSP, CBS/CBD, MSA, DLB]

Notes from CurePSP Scientific Affairs Update, 11-15-16

Alex Klein, PhD, CurePSP’s VP of Scientific Affairs, hosted a 30-minute Facebook presentation this Tuesday.  It was poorly publicized.  CurePSP didn’t even mention it on its own website or its own online support group!  (Nor did it get the word out to support group leaders.)  And CurePSP had mis-set the privileges on its Facebook page such that you got an error message unless you were already logged in to FB.  Despite all that, many people joined in.

I listened to the excellent talk today and jotted down some notes.  Since I’ve been attending the CurePSP research symposia for a few years (and just attended from the 2016 symposium in late October), there’s nothing new for me here.  But, for most of you, I think these will be the most interesting points about research:

* 97% of all cases of PSP are not familial.

* Researchers can’t yet give a satisfactory answer about the role of the environment in causing PSP.  In Parkinson’s studies, well-water appears to be a cause.  A recent PSP study showed that well-water doesn’t cause PSP.  The only thing found that might increase the risk for PSP is a low educational attainment.  This brings us to secondary factors such as occupation.  For example, if you have a lower educational level, maybe you are more apt to have an industrial job, where you are more exposed to environmental toxins.

* In the US, a “rare” or orphan disease is one where there are fewer than 200K patients.  In the US, there are about 20K patients with PSP.  In 1983, the Orphan Drug Act was passed by Congress, giving tax incentives for pharmaceutical companies.  The procedures of clinical trials are the same.  However, the requirements in terms of statistical power are much less.  Instead of 1K for an Alzheimer’s clinical trial, we only need 100-300 PSP patients to participate.  Reporting requirements are less frequent.  And outcomes or endpoints are closer, or shorter, after starting the treatment.  This means the cost for clinical trials are much lower in PSP.  Since both PSP and Alzheimer’s are tauopathies, if we have a cure for PSP, we may have a cure for Alzheimer’s disease.  That’s why drug companies are funding research into PSP clinical trials.

* The Association for Frontotemporal Degeneration and the Bluefield Project created the FTD Disorders Registry.  The Tau Consortium is now supporting the Registry, and CurePSP will be joining the registry soon.  The registry is a way to link clinical researchers with participants.

Robin’s note:  FTD is an umbrella term that means frontotemporal degeneration; it includes PSP and CBD.  The FTD Disorders Registry has a website – ftdregistry.org – which is marked as “coming soon.”  I heard a talk in May on the registry where the coordinator said it would be launching in July.  Then I heard a talk in October where the coordinator said it would be launching in November or December.  So I’m hoping for early 2017!  Those with PSP and CBD and family members are invited to participate.  Even family members whose loved ones have passed away will be invited to participate.

The “transcript” of sorts is copied below with some of my notes.  And I’ve provided a link to the 30-minute video in case you’d like to watch yourself!

Robin


 

Since CurePSP’s Facebook page requires you to be logged in to FB to view the page, I think it’s best to share a link to the CurePSP video that we’ve posted to the Brain Support Network FB page:

https://www.facebook.com/BrainSupportNetwork/

Alex Klein, PhD
VP of Scientific Affairs, CurePSP
Facebook Live Video
November 15, 2016

Notes by Robin Riddle

(Time is counting down.  Clock starts at 32:38)

31:38 Is this disease hereditary? Is there a familial component?

No.  97% of all cases of PSP are not familial.  Genetic testing is not needed.

Twenty different mutations have been identified.  Main mutation in protein of tau.  If you have the tau mutation, it’s likely you’ll develop PSP.  In most cases, PSP is sporadic.

30:11 Risk factors of developing PSP

STX6 – garbage disposal system of cell
EIF28K3 – protein production
MOBP – mylenation of neurons (insulation of neurons in brain)

Genetics Consortium is a joint effort of CurePSP and the Tau Consortium.  Goals are to Identify more risk factors and find targets for drug development

28:45 How are these diseases related in general?

Protein misfolding is a common characteristic of AD, PSP, CBD, and MSA.

Our whole body and brain consists of proteins.  Systems can go wrong.  Proteins can accumulate.  Proteins can become toxic and cause neuronal death.

Different proteins go wrong.  In Alzheimer’s, it’s A-beta and tau.  In PSP, it’s mostly tau.  PSP is called a pure tauopathy, which isn’t entirely accurate because other proteins go awry.  In PD and MSA, it’s alpha-synuclein.

26:05 Are there environmental causes (chemicals, metals, pesticides) of PSP? Has research been done? Can we do anything about this after exposure?

Can’t give you a satisfactory answer.  There are hints that environmental toxins that cause PSP and related disorders.  We still don’t know which ones [toxins].  How do we find out which toxins cause problems?

In Parkinson’s studies, well-water may cause PD.  A recent PSP study showed that well-water doesn’t cause PSP.

The only thing we found that might increase the risk for PSP development is a lesser educational attainment.  This brings us back to secondary factors such as occupation.  For example, if you were more exposed as an industrial worker to environmental toxins, that gives us a hint for something to follow.

There is a cluster of PSP in northern France where there is a huge increase in PSP incidence.  This used to be a heavily-industrialized area.  There were no environmental laws.  This is a poor area.  Food was grown in people’s back yards.

[Robin’s note:  We heard about the cluster in northern France at the 2015 research symposium.  I had expected we would hear more about this in 2016 but there was no mention of it.  I did hear that the research has been discontinued.  A rumor was going around the conference that perhaps the French government didn’t want research into environmental causes of PSP.]

There is a cluster on the island of Guadeloupe.  Two fruits (sweet sop, sour sop) associated with the development of PSP.  There is a natural decline in the incidence of PSP.  We aren’t sure what was in the fruit that caused PSP.

Eat healthy.  Stay healthy.  Be active.  This is good for the brain.

22:12 How do we make sure all neurology fellow receive PSP training?

We recently emailed 14K neurologists across the US to make them aware of PSP and how to diagnose PSP.  We host webinars.  We are members of the Movement Disorders Society.  We have brochures for healthcare professionals.  Please spread the word to your healthcare professionals, such as PTs.

20:10 What are the very beginning symptoms?

Every PSP case is different.  Many cases start with balance issues.  Backwards falls.  Most PSP patients are misdiagnosed with Parkinson’s.  Many of the symptoms mimic the symptoms of PD.  Be sure to tell your neurologist if your falls are backwards.

Early signs are personality changes.  Not just a movement disorder.  Changes in reasoning.  Can be aggressiveness, irritability, and character changes.

Loss of interest in ordinarily-pleasurable activities is a sign of PSP.  This is different from Parkinson’s.

Less common is gaze palsy (up and down) at the beginning.  Left to right eye sight usually isn’t a problem.

Slurred speech can a problem at the beginning but doesn’t have to be.

CBD is more unilateral.  CBD symptoms are more mild at the beginning.

17:09 How common is PSP?

In the US, a “rare” disease if you have fewer than 200K patients in the US.  In the US, there are about 20K patients with PSP.  There are 5 million AD patients and 1 million PD patients in the US.  5-6 per 100K prevalence for PSP.  20K patients is still quite a lot.

In 1983, Orphan Drug Act was passed by Congress.  Being part of an orphan disease helps PSP research, drug development, and search for a cure.  Pharma needs a market.  Because of this act, there are tax incentives for pharmaceutical companies.  The procedures of clinical trials are the same.  However, the requirements in terms of statistical power are much less.  Instead of 1K for an Alzheimer’s clinical trial, we only need 100-300 patients in PSP.  Reporting requirements are less frequent.  And outcomes and endpoints are closer, or shorter after starting the treatment.  This means the cost for clinical trials are much lower in PSP.

Why is that interesting for a pharma company?  These diseases share protein misfolding.  PSP is at the center of prime of life diseases.  If we have a cure for PSP, maybe we have an idea for solving a disease for 5 million Alzheimer’s patients.  That’s a fantastic idea.

13:21 What can we do to help you cure PSP and CBD?

It’s a long list because there’s a lot you can do.

Raise awareness.  Please make others aware of what you are suffering from.  Explain what you have.  Even to your dentist.  This is important.  CurePSP will keep emailing healthcare professionals.

Subscribe to the CurePSP newsletter.  Share the newsletter.

Donate to CurePSP or host fundraisers (bake sales, wine tasting, walks).  Nine employees – 7 in NYC.

Register with registry.

Participate in brain donation.  Researchers need human tissue to test therapies.  After a long period of suffering, it would be wonderful if you and your loved ones would agree on brain donation.  It’s not for everyone.  We respect that.  Brain donation is a wonderful thing to do if you’d like to dedicate your brain to research.  Twelve years ago, started a partnership with the Mayo Clinic brain bank.  140 brains a year.  1000s of brains with PSP and related disorders.  Thousands and thousands of researchers.  Helps the genetics program to have human tissue.

[Robin’s note:  Brain Support Network, brainsupportnetwork.org, can help your family make arrangements for brain donation!  We prefer to make arrangements in advance – and your family prefers this too!  But we can even help you at the last minute.]

[Robin’s note: Mayo accepts on average 80 PSP, CBD, and MSA brains per year so I’m not sure where 140 comes from.  In 2015, they accepted 100 PSP, CBD, and MSA brains.  That’s per the Mayo Clinic presentation at the 2016 research symposium.  I don’t think they’ve ever hit 140 brains in a year with those three diagnoses.] 

8:30 Is there a registry?

Soon.  We will be joining the FTD Disorders Registry.

FTD = frontotemporal dementias.  Umbrella term.  Includes FTD as a disease, PSP, CBD, and other diseases.  We’ve joined this registry.  It was started by the Bluefield Project and the AFTD.  Supported by the Tau Consortium.  Registry will help clinical researchers find patients.  This will let us conduct natural history studies.  This will help us connect patients and science.

[Robin’s note:  The AFTD uses the term FTD to mean “frontotemporal degeneration,” which includes PSP and CBD.  The FTD Disorders Registry has a website – ftdregistry.org – which is marked as “coming soon.”  I heard a talk in May on the registry where the coordinator said it would be launching in July.  Then I heard a talk in October where the coordinator said it would be launching in November/December.  So I’m hoping for early 2017!  Those with PSP and CBD and family members are invited to participate.  Even family members whose loved ones have passed away will be invited to participate.]

6:51 Should I stretch and exercise every day?

Yes, stay as active as you can.

Gait and balance are big problems.  Train how to use a walker.  Consider putting a sandbag at the front of your walker.

Email us at [email protected].  Whatever you do should be in collaboration with your neurologist or physical therapist.  You need a treatment plan monitored by a healthcare professional.

Call us for help finding a local neurologist.  On our website is the MDS (movement disorder specialist) finder with the help of our friends from the Movement Disorder Society.

[Robin’s note:  I have searched and searched and don’t see this “finder” on their website.  I think most local support group leaders keep lists of movement disorder specialists or dementia specialists they would consider as experts on PSP or CBD.  The local American Parkinson Disease Association Information and Referral Center, apdaparkinson.org, can be a good source of referrals as well.]

Caregivers must embrace the disease.  A hazard at home is falling because up-and-down gaze is impaired.  Remove small (low) furniture in a room.  Install handrails.

3:15 What is CurePSP doing to advocate for caregivers?

It takes a strong caregiver to provide good care.  Caregivers must look after themselves.

CurePSP Care partner retreats – two next year, 4/29, in Atlanta and Portland.  Personal matters of caregivers such as nutrition, meditation, mindfulness, and stress management.  Not so much about PSP.

Two family conferences (caregivers and patients) next year – 3/18 in Phoenix and 6/24 in Chicago.  About research, medical trials, therapy management, family and legal matters, support groups, and special topics (art therapy, hospice care).  Check out Events calendar at curepsp.org.

There is a lot of hope in research.  Hopefully we can help you and cure you soon!

Diagnostic accuracy is low, even for Alzheimer’s!

This email may be of interest to the armchair researchers among us and those following progress on brain imaging for Alzheimer’s and other amyloid-based pathologies.

For the last several years, researchers at major medical centers have had access to amyloid PET scans.  These scans indicate if there’s amyloid in the brain.  Amyloid is one of two proteins involved in Alzheimer’s Disease.  Just because there’s amyloid in the brain doesn’t mean someone has Alzheimer’s but the chances are high given the prevalence of the disease.  And just because there’s amyloid in the brain doesn’t mean that other disorders, such as Lewy Body Dementia, aren’t also present.

Amyloid PET scans are slowly moving into clinical use.  Insurance companies generally don’t want to pay for an amyloid PET scan as having a more accurate diagnosis doesn’t presently lead to any helpful treatment.

An interesting study was recently published about how amyloid imaging can change the clinical diagnosis.  The study is discussed here on the AlzForum:

With Amyloid Scan in Hand, Physicians Manage AD Differently
AlzForum
04 Nov 2016

The most interesting part of the study to me was how poor the diagnosis is without using an amyloid PET scan.  The study reported:  (AD = Alzheimer’s Disease)

“PET scans revealed that about one-third of patients diagnosed with AD were amyloid-negative, while about half of patients with other diagnoses were amyloid-positive.”

So this means that about one-third of all the patients neurologists thought had Alzheimer’s don’t have Alzheimer’s.  And half of the patients neurologists thought didn’t have Alzheimer’s in fact have Alzheimer’s!

Did the scan results change the diagnosis?  The study reported:  (Aβ = beta-amyloid)

“Diagnoses for nearly all the Aβ-negative patients changed to non-AD. Only half the non-AD Aβ-positive patients were given a new diagnosis of AD.”

So, the amyloid-negative scans swayed the post-scan diagnosis.  Why did the amyloid-positive scans not change the diagnosis?  AlzForum says:

“Researchers praised the fact that clinicians did not simply equate an amyloid-positive scan with AD. ‘That’s appropriate. The scan should be just one data piece you use along with other clinical context to make a diagnosis,’ [UCSF neurologist Gil] Rabinovici said. He also liked the fact that clinicians put less weight on a positive scan than a negative one, recognizing that amyloid pathology can occur in other disorders. Nevertheless, the 12 amyloid-negative patients maintained their AD diagnosis because they fit the profile of Alzheimer’s extremely well, Boccardi noted. These patients might have had false negative scans, or they might have suspected non-Alzheimer’s pathology (SNAP), she suggested. Analysis of the collected CSF for disease biomarkers might shed additional light on their pathology.”

Clearly, there’s lots more work to do….

Robin