Category Archives: PSP

WSJ Article About Tau Researcher

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This post is about tau protein. Tau is the protein involved in PSP, CBD, and Alzheimer’s Disease.

This Wall Street Journal article is on researcher Claude Wischik, tau protein, and Alzheimer’s research. Dr. Wischik “has long backed a minority view: that a protein in the brain called tau – not plaque – is largely responsible” for Alzheimer’s. Since this article is from the WSJ, there is an investment focus to part of the article.

For me, the most interesting part of the article was one sentence in parentheses. Dr. Wischik founded a company called TauRX Pharmaceuticals. They did a small study of a tau drug, called Rember, in Alzheimer’s patients. They never published the full results. “(Dr. Wischik says it didn’t to protect the company’s commercial interests.)”

There’s also a 5-minute video that focuses on the tau vs. amyloid debate. (This is sometimes called the “tauists vs. the BAPtists.” BAP = beta amyloid protein.) I’d recommend watching the video and then reviewing the article, if you are still interested.

Robin

5-minute video (after 15-second ad) on tau tangles, why Dr. Wischik focused on tau, why the rest of the community focused on amyloid, and what else is going on besides protein accumulation:

http://online.wsj.com/article/SB1000087 … bs%3Dvideo

http://online.wsj.com/article/SB1000087 … %3Darticle
(I was able to view the full article this morning though it’s listed as “subscriber content only.” Probably this website error will be fixed soon)

HEALTH INDUSTRY
Updated November 9, 2012
Wall Street Journal

An Outcast Among Peers Gains Traction on Alzheimer’s Cure
By Jeanne Whalen

Some people collect stamps, others vintage cars. As a young Ph.D. student at Cambridge University in the 1980s, Claude Wischik was on a mission to collect brains. …

Big news in PSP community – genetics study finally published!

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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.

Robin

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.

Abnormal Proteins and Genetics in Frontotemporal Dementia

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Yesterday’s New York Times had a good article on three proteins involved in frontotemporal dementia (FTD) and the research being done at at the University of California San Francisco (UCSF) on these proteins.  Genetics are also addressed in this article.

In FTD, 40% of cases involve tau (which is also part of PSP, CBD, and Alzheimer’s Disease), 50% of cases involve TDP-43, and 10% of cases involve FUS.  There is a genetic component to about half of all FTD cases.

Dr. Bruce Miller at UCSF’s Memory and Aging Clinic comments on how to find those with FTD who are early in the disease course:

“What is so fascinating about this is, what do you define as ‘affected’ in somebody who carries a gene that is going to cause a slow, subtle social decline? What are good markers for someone who is starting to get sick? Addictive behaviors ­ drugs, alcohol, gambling ­ bad decision-making, alienation of other people around them. These are things that we never realized could represent the first symptoms of a degenerative disease.”

Here’s a link to the full article:

www.nytimes.com/2012/05/06/health/tying-genes-and-proteins-to-dementia.html

May 5, 2012
The New York Times
Studies Tie Abnormal Protein Buildup to Dementia
By Denise Grady

A few excerpts are copied below.

Robin

 

Excerpts from

Studies Tie Abnormal Protein Buildup to Dementia
New York Times
By Denise Grady
May 5, 2012

Scientists think that abnormal protein deposits inside brain cells
cause frontotemporal degeneration. The proteins vary, but they do not
include amyloid, the substance found in Alzheimer’s patients.

In about 40 percent of patients, the deposits are an abnormal form of
a protein called tau, which normally gives structural support to brain
cells. (Tau is also one of the proteins found in Alzheimer’s
patients.)

Two other types of deposits are abnormal versions of proteins involved
in other cell functions. In about half of all patients with
frontotemporal dementia, the protein is one known as TDP-43, and in
about 10 percent it is a substance called FUS.

But why do these protein deposits form? Often, the underlying reason
is not known.

At least half of all cases are sporadic, in people with no family
history of the disease and no known genetic disorder. About 40 percent
of patients do have a family history, and some may have an
identifiable genetic mutation.

In the remaining 10 percent…the disease is definitely inherited: a
dominant gene makes the symptoms inevitable, sometimes as early in
life as the 30s or 40s, in anyone who inherits a copy from an affected
parent. And each child of an affected parent has a 50-50 chance of
inheriting the bad gene.

So far, most inherited cases have been linked to mutations in two
genes, both on the same chromosome, number 17. One gene codes for tau.
The other gene codes for a protein called progranulin and causes a
deficiency of it, which appears linked to the buildup of TDP-43. Three
other genes are involved in some cases, and researchers are looking
for still more.

 

“When Illness Makes a Spouse a Stranger”

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Yesterday’s New York Times had a terrific general story about dementia turning a spouse into a stranger.  Those within Brain Support Network dealing with LBD, PSP, and CBD may find this article of interest.

It’s the story of a Manhattan-based couple.  Before the husband was diagnosed with frontotemporal dementia in his 60s, the wife was considering divorce.  The wife talks about losing control when dealing with her husband, and grieving though he’s still alive.  Eventually, the wife had to place him in a care facility for both of their safety.  She spends several hours a day with him.

The wife notes that MDs are at a loss to forecast the progression:

“They can tell you everything that’s ever happened to anyone, but they can’t tell you what’s going to happen to you,” she said.

Here’s a touching video about this couple:

www.nytimes.com/video/health/100000001343193/in-love-and-loss.html

Dr. Bruce Miller from UCSF’s Memory & Aging Center is quoted frequently as UCSF is one of the lead institutions in the US for FTD research.  He says:

“I think at least some subtypes of frontotemporal dementia will be the first neurodegenerative diseases we find a cure for.” 

According to this article, there are eight sub-types of FTD.  Sometimes CBD and, less often, PSP are considered FTD sub-types.

The first article has a short mention of Richard Rainwater, who has PSP:

“But even if treatments or cures for frontotemporal dementia do emerge, they will almost certainly come too late for people with advanced cases, like … Richard Rainwater, a billionaire investor who learned in 2009 that he had progressive supranuclear palsy, which some consider a form of frontotemporal dementia. Mr. Rainwater and his family have donated more than $20 million to a research consortium, but given that he has a rapidly progressive form, any advances from the consortium may be more likely to help others than to save him.”

(I assume that if Mr. Rainwater has a “rapidly progressive form” of PSP, this means he has the Richardson’s Syndrome form, which includes dementia as a primary symptom.)

Here’s a link to the full article:

www.nytimes.com/2012/05/06/health/a-rare-form-of-dementia-tests-a-vow-of-for-better-for-worse.html

New York Times
The Vanishing Mind
When Illness Makes a Spouse a Stranger
By Denise Grady
May 5, 2012

Robin

 

Guide to PSP and CBD for General Practitioners

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This terrific guide for general practitioners on two disorders — progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD).  The guide was published by the PSP Association, based in the UK (pspeur.org).  The guide covers many topics including diagnosis, treatment (management, medication), difficult conversations, cognition and behavior, end-of-life care, support for carers, and stem cell treatment.

Here’s a link to the guide:

www.pspeur.org/user/docs/PSPA%20GP%20Guide%20April%202012.pdf

A Guide to PSP and CBD for General Practitioners and Community Nurses
PSP Association, UK
June 2010

Probably many of us are envious of the “multi-disciplinary care team” available to those in the UK.  Note that a lot of the terms and certainly medication names are specific to the UK.