FDA allows 23andMe to sell genetic tests again (NYT article)

The FDA is now allowing 23andMe to sell genetic tests again.  I don’t believe the test looks for any alpha-synuclein, MAPT, or other tau-related genetic mutations so any genetic test from 23andMe won’t have any bearing on the disorders with the Brain Support Network community.  However, this is still big news for the genetic testing world.  According to the article, customers have to specifically ask to be tested for Alzheimer’s and Parkinson’s risk.

Here’s a link to today’s New York Times article on the development:
www.nytimes.com/2017/04/06/health/fda-genetic-tests-23andme.html Health
F.D.A. Will Allow 23andMe to Sell Genetic Tests for Disease Risk to Consumers
By Gina Kolata
New York Times
April 6, 2017Robin

5 common dementias, including Lewy Body Dementia

A post today on a Canadian newspaper website, Castanet (castanet.net), is about five common dementias.  The five include:  Alzheimer’s, vascular dementia, Lewy body dementia, frontotemporal dementia, and Wernicke-Korsakoff’s syndrome (caused by prolonged alcohol consumption).  Here’s a link to the post:


Here’s how Lewy body dementia (LBD) is described:

Lewy body dementia:
Often mistaken for other dementias, e.g. Parkinson’s dementia
* Presence of Lewy bodies: tiny spherical protein deposits that develop inside nerve cells in the areas of thinking, memory and movement
* Fluctuating cognitive impairment: periods of increased confusion & windows of lucidity
* Hallucinations or delusions occur frequently and can be quite detailed
* Spatial disorientation e.g. falls, fainting
* Tremor, rigidity and slowness of movement
* Highly sensitive to neuroleptic drugs: Risperidone

This is OK except for two problems.  First, the author says that LBD is mistaken for other dementias such as Parkinson’s dementia.  Well, by definition Parkinson’s (Disease) Dementia is ONE of the disorders on the Lewy Body Dementia spectrum.

Second, I’m not sure how “fainting” is an example of “spatial disorientation.”  Fainting is an example of autonomic dysfunction.

Definitely not by favorite short LBD overview….


Multimodal Imaging Ties Tau to Neurodegeneration, and Symptoms

This is an Alzforum (alzforum.org) article about important researcher into tauopathies by researchers at Mass General.  The article was posted last week to Alzforum; the research study was published online in JAMA Neurology a couple of weeks ago.

What the researchers confirmed is that there is a “tight correlation between tau neurofibrillary tangles and neurodegeneration in individual patients in early clinical stages of various forms of Alzheimer’s disease.”  Three patients with typical Alzheimer’s Disease (AD) were studies, and three patients with atypical AD were studied.  One of the “atypical AD” cases was a person with corticobasal syndrome (CBS)

In this study, all patients were given a tau PET scan, an amyloid PET scan, and an MRI.  Researchers found that “tau predicts atrophy [which] predicts symptoms.”  It is not the protein amyloid in the brain that predicts atrophy or predicts symptoms.

In fact, we have known this from brain donation for a long time but now researchers have confirmed this in living patients.

Perhaps one reason that a CBS patient was studied rather than a PSP (progressive supranuclear palsy) patient is that the tau load in CBD is greater than in PSP.

Here’s a link to the article:


Multimodal Imaging Ties Tau to Neurodegeneration, and Symptoms
07 Mar 2017

It is challenging reading.  Check it out online for cool images of the patient with corticobasal syndrome.


“Jumping Genes Suspected in Alzheimer’s” – mitochondria cascade hypothesis

This article from Duke Today (today.duke.edu) describes the “Alu neurodegeneration hypothesis,” also known as the “mitochondrial cascade hypothesis.”

Here’s an excerpt:

“The dominant idea guiding Alzheimer’s research for 25 years has been that the disease results from the abnormal buildup of hard, waxy amyloid plaques in the parts of the brain that control memory. But drug trials using anti-amyloid drugs have failed, leading some researchers to theorize that amyloid buildup is a byproduct of the disease, not a cause.  The Duke study builds on an alternative hypothesis. First proposed in 2004, the ‘mitochondrial cascade hypothesis’ posits that changes in the cellular powerhouses, not amyloid buildup, are what cause neurons to die.”

The full article is below.




Jumping Genes Suspected in Alzheimer’s
Mechanism might explain initial stages of neurodegenerative disease
Duke Today|Research
By Robin A. Smith, Duke Research
Published March 8, 2017

DURHAM, N.C. — The latest round of failed drug trials for Alzheimer’s has researchers questioning the reigning approach to battling the disease, which focuses on preventing a sticky protein called amyloid from building up in the brain.

Duke University scientists have identified a mechanism in the molecular machinery of the cell that could help explain how neurons begin to falter in the initial stages of Alzheimer’s, even before amyloid clumps appear.

This rethinking of the Alzheimer’s process centers on human genes critical for the healthy functioning of mitochondria, the energy factories of the cell, which are riddled with mobile chunks of DNA called Alu elements.

If these “jumping genes” lose their normal controls as a person ages, they could start to wreak havoc on the machinery that supplies energy to brain cells — leading to a loss of neurons and ultimately dementia, the researchers say.

And if this “Alu neurodegeneration hypothesis” holds up, it could help identify people at risk sooner, before they develop symptoms, or point to new ways to delay onset or slow progression of the disease, said study co-author Peter Larsen, senior research scientist in biology professor Anne Yoder’s lab at Duke.

The dominant idea guiding Alzheimer’s research for 25 years has been that the disease results from the abnormal buildup of hard, waxy amyloid plaques in the parts of the brain that control memory. But drug trials using anti-amyloid drugs have failed, leading some researchers to theorize that amyloid buildup is a byproduct of the disease, not a cause.

The Duke study builds on an alternative hypothesis. First proposed in 2004, the “mitochondrial cascade hypothesis” posits that changes in the cellular powerhouses, not amyloid buildup, are what cause neurons to die.

Like most human cells, neurons rely on mitochondria to stay healthy. But unlike other cells, most neurons stop dividing after birth, so they can’t be replaced if they’re damaged.

In Alzheimer’s patients, the thinking goes, the mitochondria in neurons stop working properly. As a result they are unable to generate as much energy for neurons, which starve and die with no way to replenish them. But how mitochondria in neurons decline with age is largely unknown.

Most mitochondrial proteins are encoded by genes in the cell nucleus before reaching their final destination in mitochondria. In 2009, Duke neurologist and study co-author Allen Roses (now deceased) identified a non-coding region in a gene called TOMM40 that varies in length. Roses and his team found that the length of this region can help predict a person’s Alzheimer’s risk and age of onset.

Larsen wondered if the length variation in TOMM40 was only part of the equation. He analyzed the corresponding gene region in gray mouse lemurs, teacup-sized primates known to develop amyloid brain plaques and other Alzheimer’s-like symptoms with age. He found that in mouse lemurs alone, but not other lemur species, the region is loaded with short stretches of DNA called Alus.

Found only in primates, Alus belong to a family of retrotransposons or “jumping genes,” which copy and paste themselves in new spots in the genome. If the Alu copies present within the TOMM40 gene somehow interfere with the path from gene to protein, Larsen reasoned, they could help explain why mitochondria in nerve cells stop working.

“Alu elements are a double-edged sword,” Larsen said. Once dismissed as selfish or junk DNA, they are now recognized as contributors to the diversity and complexity of the human brain. “They can provide new and beneficial gene functions,” Larsen said. “They have helped humans evolve higher cognitive function, but perhaps at the cost of neuron vulnerability that increases with age.”

When the researchers looked across the human genome, they found that Alus were more likely to be lurking in and around genes essential to mitochondria than in other protein-coding genes.

Alus are normally held in check by clusters of atoms called methyl groups that stick to the outside of the DNA and shut off their ability to jump or turn genes on or off. But in aging brains, DNA methylation patterns change, which allows some Alu copies to re-awaken, Larsen said.

The TOMM40 gene encodes a barrel-shaped protein in the outer membrane of mitochondria that forms a channel for molecules — including the precursor to amyloid — to enter. Larsen used 3D modeling to show that Alu insertions within the TOMM40 gene could make the channel protein it encodes fold into the wrong shape, causing the mitochondria’s import machinery to clog and stop working.

Such processes likely get underway before amyloid builds up, so they could point to new or repurposed drugs for earlier intervention, said study co-author Michael Lutz, assistant professor of neurology at Duke.

The TOMM40 gene is one example, the researchers say, but if Alus disrupt other mitochondrial genes, the same basic mechanism could help explain the initial stages of other neurodegenerative diseases too, including Parkinson’s disease, Huntington’s disease and amyotrophic lateral sclerosis (ALS).

The researchers describe the Alu neurodegeneration hypothesis in a paper published online by Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association.

“We need to start thinking outside of the box when it comes to treating neurological diseases like Alzheimer’s,” said Larsen, who has filed a provisional patent that focuses on preserving mitochondrial function by keeping Alus in check.

Other authors include Kelsie Hunnicutt, Mirta Mihovilovic and Ann Saunders of Duke. This research was supported by a seed grant from Allen Roses and Duke funds to Anne Yoder.

CITATION:  The full text of the research article can be found here in DukeSpace, the university’s online repository of open-access research. “The Alu Neurodegeneration Hypothesis: A Primate-Specific Mechanism for Neuronal Transcription Noise, Mitochondrial Dysfunction, and Manifestation of Neurodegenerative Disease,” Peter Larsen, Michael Lutz, Kelsie Hunnicutt, Mirta Mihovilovic, Ann Saunders, Anne Yoder and Allen Roses. Alzheimer’s & Dementia, Mar. 8, 2017 DOI: 10.1016/j.jalz.2017.01.017

“The blessing inside my sister’s Alzheimer’s disease” (Washington Post)

This is a sweet story in today’s Washington Post about the “blessing” of a sister’s Alzheimer’s disease:


The blessing inside my sister’s Alzheimer’s disease
The Washington Post
By Jennifer Palmieri
March 3 at 7:24 PM


“Risky drugs: Antipsychotics, dementia can be lethal combination”

This article from the Pittsburgh (PA) Tribune-Review is about a gentleman with Lewy body dementia being given Haldol, an antipsychotic, at a hospital. He was agitated and the nurses wanted to calm him before a CT scan. Within ten minutes of receiving the injection, the gentleman experienced fever and seizures. He died several days later from neuroleptic malignant syndrome.

Here’s an excerpt from the article:

“‘[Antipsychotics] get used a lot in dementia despite the black box warning,’ said Dr. James Leverenz, director of the Cleveland Lou Ruvo Center for Brain Health and chairman of the Lewy Body Dementia Association’s scientific advisory council. Few other drugs are effective in treating psychosis, Leverenz said. He said he reserves the drugs for patients suffering the most acute psychosis. For example, he might prescribe them if a patient is calling police to report hallucinated break-ins at his or her home, he said. Leverenz said he opposes using the drugs to treat agitation except in very severe cases.”

Here’s a link to the full article:


Health Now
Risky drugs: Antipsychotics, dementia can be lethal combination
by Wes Venteicher
Saturday, Feb. 11, 2017, 1:24 p.m.

Hopefully everyone in the Brain Support Network knows about the dangers of antipsychotics in those with dementia and in those with parkinsonism!


“Delirium Makes its Own Mark on Cognitive Decline” (Alzforum)

A comprehensive study of delirium and neurodegeneration was published last month in the journal JAMA Psychiatry.  The researchers wanted to learn “whether delirium worsens neurodegenerative pathology that’s already in the brain, or causes decline through a separate process, or both.”  Note that researchers relied on donated brains of those who suffered from neurological disorders — some of whom also had suffered delirium.  (If you are interested in brain donation, Brain Support Network can help your family make those arrangements!)

An Alzforum (alzforum.org) article about this research makes several key points about how delirium can hasten neurodegeneration and how delirium should be prevented:

* “[Delirium] contributes to cognitive decline independently of Aβ, tau, Lewy bodies, or vascular disease. But combined with any of these pathologies, delirium can quadruple the rate of memory loss.”

* “Delirium hastens cognitive decline in patients who have Alzheimer’s disease and increases the risk for dementia in older people who become delirious after surgery.”

* The findings suggest “delirium and pathology interacted to accelerate decline even further.”

* The “findings are a call to take delirium more seriously.”

* A clinician not involved in the study “said this study had tremendous health implications. ‘This creates an amazing impetus for public health agents to focus on delirium prevention as a way to reduce the negative burden on brain health.’ Almost half of cases are preventable by simple, inexpensive methods, ensuring people get optimal sleep, pain medication, fluids, and exercise in the hospital, he said (Hshieh et al., 2015).”

Here’s a link to the Alzforum article:


Delirium Makes its Own Mark on Cognitive Decline
03 Feb 2017


Compassionate communication and managing difficult behaviors

Brain Support Network had an exhibitor table at the December 2016 Alzheimer’s Association “Circle of Care” conference in Foster City.  Steven Russell staffed our exhibitor table, where he talked to people about brain donation and our local support group for those with non-AD dementias.  He also had the opportunity to attend a few of the break-out sessions.  Copied below are his notes from the break-out session on “Managing difficult behaviors.”

During the break-out session, a handout on “Compassionate Communication” was reviewed.  The handout offers “do’s” and “don’ts” of communicating with someone with memory impairment.  You can find my previous post from 2008 about this terrific handout:


Two key lines from the “Compassionate Communication” handout are:

“You can’t control memory loss, only your reaction to it.   Compassionate communication will significantly heighten quality of life.”

Words to live by as caregivers!



Steven’s Notes

Managing Difficult Behaviors
Session led by:  Alexandra Morris, Alzheimer’s Association
Circle of Care Conference, December 2016

Ms. Morris spent a good deal of time describing some typical dementia behaviors, why they occur and how to change or redirect these behaviors.

Ms. Morris reminded all of us that dementia behaviors are not deliberate. The care recipient has a disease and is exerting all of his or her energy to do the best they can with their disease.  Expending so much effort when trying to communicate and have the care recipient’s needs met can lead to “sundowning” at the end of the day.

Additional dementia behaviors can include repetitive questions, hiding/hoarding objects, delusions and hallucinations, suspicion, wandering and hitting. Besides exhaustion what leads to these behaviors? Here are some ideas.

The care recipient is a person who

– is an adult and doesn’t like being disrespected or under someone’s control

– is trying to get his or her needs met

– needs connection and purpose

– lacks insight into his or her condition

– is doing the best he or she can to deal with the cognitive challenges being experienced

– is  suffering from delusions or anxiety

– is irritated at something the caregiver said or did.

Ms. Morris gave us several tips to dealing with behaviors:

– Kindness versus Truth – “white lies” are better than anger, hurt or causing fear

– Appeal to the care recipient’s motivation (this may require practice to carry off successfully)

– Always say “yes” to a request.  If the outcome could endanger the care recipient, redirect to something safer as soon as possible.

– Don’t try to reason with or over-explain something to the care recipient

– If communication gets stuck, stop. Try physical movement to get unstuck (touch, gently direct the person towards where thy need to go).

– Tell a story – “I wondered about that…” “I’ll have to look into that…”

Probably one of the most difficult challenges happens when the care partner knows that a topic will agitate the person. Here are some tips:

– Determine if the conversation must be raised at all

– Interject with ” I have a question…”

– Change location

– Appeal to the person’s emotions, not the topic itself

– Use humor to defuse a charged situation

– Tell a “therapeutic fib” that helps move the conversation along without frightening the care recipient.

Every behavior has a purpose. You may have to put on your detective hat to determine what the purpose is.

– Let the issue go (“So what?”)

– Alter the situation to make it acceptable

– Keep responses and behavior slow, simple and calming

– Re-frame the issue/redirect to a more comfortable place

– Beg forgiveness rather than ask permission

Ms. Morris reminded the audience that as a care partner you can’t control memory loss, only your reaction to it. Remember that the care recipient’s disability is memory loss. Testing memory, lecturing the care recipient on their inability to find words or express appropriate emotions leads to suffering for all involved.  Instead refer only to the future (when the person with dementia mentions they want food, instead of saying “You ate an hour ago” say ” Why don’t I fix something for you in a bit?”).  Don’t use open-ended questions or try to initiate multi-step processes. Give the care recipient a simple choice between two items or direct their choice -“you look great in the green shirt.”

Finally, Ms Morris mentioned that the goal is to make life more calm and enjoyable for both you as care partner and for the care recipient. As you reassure the person remember that the care recipient cannot remember this reassurance. You’ll need to remind him or her each time.

Care partner communication at all stages of dementia – workshop notes

Brain Support Network had an exhibitor table at the December 2016 Alzheimer’s Association (alz.org/norcal) “Circle of Care” conference in Foster City.  Steven Russell staffed our exhibitor table, where he talked to people about brain donation and our local support group for those with non-AD dementias.  He also had the opportunity to attend a few of the break-out sessions.  Here are his notes from the break-out session on “Care partner communication at all stages of dementia.”



Steven’s Notes

Care Partner Communication at all Stages of Dementia
Session by:  Alexandra Morris, Alzheimer’s Association
Alzheimer’s Association Circle of Care
December 2016


In early stages, where the diagnosis may be mild cognitive impairment, the person may be able to adequately express his/her thoughts, participate in and make decisions about future care but may also misinterpret what others say. People at this stage will have difficulty finding words, participating in/following conversations and struggle with decision-making or problem solving.  The care partner can connect with care recipient at this stage by using clear and straightforward sentences, leaving extra time for conversations (particularly responses), etc. Care partners should be especially careful to include the person in any conversation…related to future care decisions. Communicate in a manner that works best for the person (email, in-person, phone) and speak directly to him/her.


In mid-stage disease, language is reduced to basic words and sentences. The person receiving care is more likely to rely on tone of voice, facial expressions and body language to make a connection. At this stage, activities meaningful to the person with dementia are key to maintaining an emotional connection. Clues about cognitive changes include losing words (nouns go first), increasing trouble finding the right word and losing the train of thought or the thread of a conversation. Communication comes more through behaviors than words. Care partners can help by approaching from the front, saying who they are while calling the person receiving care by name. Care partners should move their level to match that of the care recipient, pay attention to tone of voice and take more time to let the conversation flow. Short sentences and basic words are best (one question at a time) and distractions should be limited. It is especially important to normalize experiences (for instance, if the care recipient is afraid, explain what is happening and show that you are not afraid).

Also at this stage, caregivers should join the care recipient’s reality. Keep respect and empathy in mind as you try to give the person multiple cues to help make and maintain a connection. Modeling behavior, keeping gestures fluid and overt (never sudden or coming from the side) repeating as necessary, avoiding “quizzing” about a topic and turning negatives into positives are great tools to help build trust. Writing things down, pointing them out or using photographs or pictures to convey meaning are also very helpful. One cue Ms. Morris mentioned is putting answers into your questions — “Would you like to wear the red shirt today?”  As verbal communication begins to decline, try and asses the care recipient’s needs (pain, bathroom, hunger, temperature, fear, boredom). People with dementia only receive half the pain medication needed compared to functional adults. In addition people with dementia are almost never treated for breakthrough pain (the person with dementia struggles to express this need so the care partner will need to always be alert to checking pain levels and advocating for patient comfort. Let the person with dementia know you hear his/her concern whether through words, behavior or both.


In late-stage disease, the care recipient uses body language and his or her five senses to make a connection. The person may still respond to familiar words, phrases, smells or songs. Pain is often chronic at this stage . If the care recipient is agitated, always check first for pain, then bathroom, food, temperature, etc. The care partner should reply in a similar manner using all five senses to make a connection:

Touch – feel different fabrics, identify shapes by touch, give lotion hand massages, identify items in a bag by touch, visit animals, sculpt, hold the person’s hand;

Sight – brightly colored pictures to look at together, photo albums, paint with watercolors, go bird watching, sit at an open window;

Sound – particularly music (and personally meaningful music-the movie Alive Inside shows this very movingly), traditional or native language music, poems, whistling, singing and humming are all helpful;

Smell – baking (cookies are always great), aromatherapy with essential oils, flowers, grass clippings, fragrant lotions for hand massages;

Taste – favorite foods, popsicles, flavored drinks, ice cream.

At all stages of disease the care partner needs to understand and accept what can’t be changed. The person receiving care retains a sense of self, despite the many losses caused by dementia. You are visiting their world — join them there to make a connection. Always treat the person as an adult, worthy of respect and empathy. Try and decode what need the person is trying to express and help meet that need with soothing and calming words and actions. Recognize the effects of our moods and actions on the person receiving our care.

PBS Documentary Tonight and Article on Alzheimer’s Research

There’s a new PBS documentary airing tonight (January 25th) on Alzheimer’s Disease.  It’s a one-hour urgent call to action called “Alzheimer’s: Every Minute Counts.”  The point of view of the documentary is that we haven’t given enough resources to Alzheimer’s research.

There’s an article from Next Avenue about the documentary.  See:


‘Every Minute Counts’ in Battling the Threat of Alzheimer’s
A new PBS documentary airing Wednesday is an urgent call to action
Next Avenue
By Emily Gurnon, Health & Caregiving Editor
January 23, 2017

The article is an interview with Dr. Rudy Tanzi, an Alzheimer’s researcher who appears in the documentary.  He is asked about the current state and level of AD research; genetic testing; and things you can do to lower your risk of AD (Mediterranean diet, 7-8 hours/night of sleep, 10K steps/day of exercise, and stress reduction).