Big news in PSP community – genetics study finally published!

This is big news for the PSP (and CBD) community: the genetics study finally got published yesterday in the journal Nature Genetics. (I think Dr. Schellenberg had gotten side-tracked on some Alzheimer’s-related research, so it’s good to see the research finally seeing the light of day.) The data published are limited to PSP.

The CurePSP press release talks about “three new genes linked to” PSP being identified. In Dr. Schellenberg’s November 2009 update (see earlier blog post), he talked about four new genes being identified. The difference is that we’ve known about MAPT – the tau gene – being associated with PSP for a long time. (Dr. Irene Litvan did that research.) Dr. Schellenberg and other researchers found a second variant of MAPT that is also associated with PSP. So that’s how we get to four new variants.

This research is made possible through brain donations from those with PSP. Dr. Schellenberg said in November 2009 that 1212 PSP brains were donated and included in the first go-round with a target of 1000 more brains to be included in a replication study. As it worked out, the data published yesterday were based on:

* 1,114 PSP cases – stage 1
* 1,051 PSP cases – stage 2

At least four local support group members were included in stage 1 (including my father). And four were included in stage 2.

Many more brains have been donated in the last 18 months, and that tissue will be part of future studies.

Perhaps the next steps are developing tests that look for these genetic variations in the living. And developing treatments based on this new knowledge. Certainly other work into finding the cause and cure for PSP (and CBD) will take advantage of this new data as well.

I’ve copied the understandable CurePSP press release below. In another post, I’ll copy the abstract of the Nature Genetics paper, authored by the PSP Genetics Study Group. The authors are all the big names in PSP genetics research. I’m not entirely sure but I think it’s a disappointment that this is published as a letter rather than as an a research article; I believe that letters are not subject to the same sort of peer review as the articles. Still, it’s great that the research has been published.


CurePSP press release:

CurePSP-funded Study Identifies Three New Genes Linked to Progressive Supranuclear Palsy

TIMONIUM, Maryland, June 19, 2011 – An international team of researchers led by Gerard D. Schellenberg, PhD, a member of the CurePSP Genetics Consortium and professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania, has identified three new genes that can increase the risk of people developing Progressive Supranuclear Palsy (PSP).

PSP is a rare neurodegenerative brain disease, similar to Parkinson’s disease, which causes severe disability by destroying parts of cells that allow the brain to function normally. While PSP has underlying biological similarities to Alzheimer’s disease, a disease which primarily affects memory, PSP impacts a person’s physical movement and bodily functions. PSP leads to progressive decline in patients – there is no known cause or cure.

The study found significant genetic signals associated with PSP risk at several genes including STX6, EIF2AK3, MOBP, and confirmed two variants within MAPT (the tau gene), which influences tau expression in the brain. The identified genes encode proteins for vesicle functioning, protein folding, and myelin – critical functions that help the brain operate normally. The findings appear in the current issue of Nature Genetics (NG-A29596R1).

“The CurePSP Genetics Program and this genome-wide association study is perhaps the single most important research project to date funded by the Foundation,” said Dr. Richard Gordon Zyne, President-CEO of CurePSP. “The study, which is a product of our genetics program, is significant because it will help researchers better understand the factors that lead to the development of PSP.”

Understanding the cause of the disease is a critical step in the battle against PSP, and may lead to the creation of tools for early diagnosis, preventative drug treatments, and eventually, a cure.

The study was supported by grants from the Foundation for PSP | CBD and Related Brain Diseases (CurePSP), the Peebler PSP Research Foundation, and the National Institutes of Health (NIH)’s National Institute on Aging (NIA) and the National Institute of Mental Health (NIMH), among other organizations.

“A New Look at Living Wills” (WSJ, 6/8/12)

There’s a good article in today’s Wall Street Journal on living wills.  Here are key excerpts:

“An estimated 25% to 30% of Americans have filled out living wills, documents that spell out wishes for medical treatment. But ethicists say the typically simplistic documents aren’t the solution many hoped they would be. Life-prolonging medical technology has far outstripped doctors’ ability to predict outcomes. The hardest choices center on when quality of life will be so diminished that death is preferable.  As such, some health organizations are trying to improve living wills, allowing for more flexibility and nuance. Some ethicists, meanwhile, are de-emphasizing living wills altogether and focusing on appointing a trusted family member or friend as your health-care agent. … The problem with living wills is that most people can’t articulate what they want… And even if they can, family members often don’t properly interpret those wishes.”

I think this reinforces the idea that we need to choose carefully a family member or friend who will be our health-care agent, and we need to have a lengthy discussion with that person in advance about what “quality of life” means to us.  I’m the health-care agent for a local support group member who is having surgery on Monday.  I agreed to be her agent only if we have lengthy discussions about her wishes if something goes wrong during the surgery.  We are getting together on Sunday for the second time to review her wishes.

The article mentions two sources of living will documents:
* Five Wishes:; $5; can be completed online
* Lifecare Directives:; cost is $8

After local support group member Storme showed me the Five Wishes booklet years ago, my family adopted it as our living will template.  As noted in this article, Five Wishes provides lots of blank space for customization of the living will.

Another resource mentioned in the article is the American Bar Association’s “Consumer’s Tool Kit for Health Care Advance Planning,” described as a tool for getting the conversation started.  The tool kit is available at no charge online:

Here’s a link to the WSJ article:

A New Look at Living Wills
These critical documents about your preferences for end-of-life care don’t always work as planned. More flexibility might be the answer.
By Laura Johannes
Wall Street Journal
June 8, 2012, 9:26 a.m. ET

“Among the Very Ill, Confusion About Life’s End”

There’s a compelling article published in a recent “New Old Age” blog in the New York Times.  It’s about the “unwillingness of older Americans to ponder, discuss and plan for the end of their lives remains an enduring frustration for health care professionals.”

The article’s author concludes:

“But the findings make sense, in a way. Why would patients feel any urgency about discussing or documenting their decisions about the end of life if they think that’s going to be an instantaneous or two-day process? Or if they have no idea what might occur? Apparently, they don’t.”

Here’s a link to the article:

The New Old Age: Caring and Coping
Among the Very Ill, Confusion About Life’s End
By Paula Span
New York Times
June 4, 2012, 6:00 AM

Forbes Article About Professor with Primary Progressive Aphasia (type of Fronotemporal Degeneration)

Here’s an excerpt from a wonderful article in Forbes about professor Joanne Douglas who has primary progressive aphasia, a subtype of frontotemporal degeneration:

Before her interview, Joanne Douglas spends the day in silence. Hers is not a spiritual practice, but a cerebral one: Joanne needs to conserve her word supply, which she says runs out over the course of the day, leaving her virtually speechless by its end. Joanne has a form of the brain disease frontotemporal degeneration (FTD) known as primary progressive aphasia (PPA), which affects about 20% of FTD patients, and is what makes her often unable to retrieve the words she once produced with ease. Eventually she’ll lose the ability to produce speech completely.

Here’s a link to the full article: