Dejerine-Sottas

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Mind Control

February 28, 2005

Filed under: Neuroprosthetics

The March issue of Wired magazine features an article about brain-computer interfaces, with a profile of Mark Nagle, the first patient in a controversial clinical trial that seeks to prove brain-computer interfaces can return function to people paralyzed by injury or disease. His BCI is the most sophisticated ever tested on a human being, the culmination of two decades of research in neural recording and decoding. A Foxborough, Massachusetts-based company called Cyberkinetics built the system, named BrainGate.

John Donoghue, head of neuroscience at Brown University and the founder of Cyberkinetics, eventually wants to hook BrainGate up to stimulators that can activate muscle tissue, bypassing a damaged nervous system entirely. In theory, once you can control a computer cursor, you can do anything from drawing circles to piloting a battleship. With enough computational power, “everything else is just engineering,” says Gerhard Friehs, the neurosurgeon from Brown who implanted Nagle’s device.

Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation

February 25, 2005

Filed under: Journal articles

Link to article on PubMed
by Lee YC, Soong BW, Liu YT, Lin KP, Kao KP, Wu ZA.
The Neurological Institute, Taipei Veterans General Hospital #201, Sec. 2, Shih-Pai Road, Peitou District, Taipei, Taiwan 11217 (ROC).
BACKGROUND : Myelin protein zero gene (MPZ) mutations may account for a small proportion of cases of Charcot-Marie-Tooth disease (CMT). Different MPZ mutations may be associated with different clinical and electrophysiological phenotypes.
OBJECTIVES : To expand our understanding of the characteristics of nerve conduction velocity (NCV) in patients with different MPZ mutations, the authors collected and analysed the NCV values from patients with MPZ mutations.
MATERIALS AND METHODS : The NCVs of fourteen patients from six families carrying MPZ mutations of Val58Asp, Ser63Phe, Thr65Ile,Arg98Cys, Arg98His, and Ser233fs were collected retrospectively. Five of them had received nerve conduction studies (NCS) twice. The mutations were verified by polymerase chain reaction (PCR) amplifications and nucleotide sequencing. Scatterplot analyses of median motor NCV (MNCV) versus specific MPZ mutation were performed.
RESULTS : The median MNCV varied widely, with a mean of 16.3 m/s (SD=7.7 m/s) and a range of 5.1-32.9 m/s. Median MNCVs of patients with particular MPZ mutations were similar. Moreover, Median MNCV did not change significantly over time.
CONCLUSIONS : There was concordance between median MNCV and specific MPZ mutations. However, median MNCV is not an ideal measure with which to distinguish CMT1B patients with MPZ mutations from CMT1A patients with PMP22 mutations.

PCs do thousands of years of work

February 21, 2005

Filed under: Miscellaneous

There’s an interesting article on the BBC News site about the World Community Grid project, a distributed computing effort to study proteins and their role in the human body. The hope is that a better understanding of the roles certain proteins have will lead to the development of cures or better treatments for diseases like cancer, HIV/Aids, and malaria.
I’ve been involved in similar distributed computing efforts for awhile now, and convinced my family and friends to join, because I believe this project or others like it will someday benefit myelin protein research. It costs nothing for the computer owner, generally requires no maintenance, and doesn’t interfere with use of your computer; and the scientists not only save money that they’d otherwise have to spend on powerful computers, but–more importantly–they save years of time.

Dr. Zarife Sahenk to speak at Ohio State University Medical Center

February 17, 2005

Filed under: Uncategorized

Dr. Zarife Sahenk will be the keynote speaker at a seminar to be held at Ohio State University Medical Center in Columbus, Ohio on April 8th from 9 a.m. to 12 noon. The seminar will cover what is new in research and medical care for CMT, and what she forsees in the future.
In 2003, Dr. Sahenk proved that nerve growth factor NT-3 was successful in the first human trials for CMT nerve regeneration. Her study included 8 people. On October 21, 2003 she presented her findings and made CMT history at the Neurologist’s meeting in San Francisco.
Thanks go to CMTUS for the information.

CMT Database Project Seeks Participants

February 7, 2005

Filed under: Studies and Clinical Trials

The January/February issue of Quest (from MDA) mentions the search for participants in the CMT Database. You can also contact Carly Siskind at (313) 577-5273 or csiskind@med.wayne.edu.

Clinical trials

February 6, 2005

Filed under: Studies and Clinical Trials

MDA’s web site is listing three clinical trials that people with Dejerine-Sottas are eligible for. Please note that these trials are not designed to test treatments for Dejerine-Sottas in particular; rather, the researchers are looking to determine the safety of creatine monohydrate in children with neuromuscular diseases, develop a painless, noninvasive, diagnostic technique called “EIM” (electrical impedance myography), and compare biological markers in the blood of subjects with and without amyotrophic lateral sclerosis (ALS).

Support the Stem Cell Research Enhancement Act

This just in from the Christopher Reeve Action Network:

Good News: We have a pro-stem cell bill. Let’s get behind it!
The first 100 Days of 2005 are critical for stem cell research and somatic cell nuclear transfer (SCNT or therapeutic cloning). Representatives Mike Castle (R-DE) and Diana DeGette (D-CO) are gearing up to re-introduce the Stem Cell Research Enhancement Act in the next few weeks and are asking for your help to build the list of co-sponsors.
This is our opportunity to advance positive legislation that would expand the current policy–announced without a national debate!–by President Bush on August 9, 2001. In recent days, there have been a number of articles written about the limited capacity of the current embryonic stem cell lines eligible for federal funding. (Click here for an article in the Los Angeles Times.) Now is the time to contact your Representative and tell them to support research and to be an original co-sponsor on the Castle-DeGette bill.
The legislation would allow federal funds to be used to conduct research on stem cells that meet the following criteria:

  • Embryos were originally created for fertility treatment purposes and are in excess of clinical need;
  • The individuals seeking fertility treatments for whom the embryos were created have determined that the embryos will not be implanted in a woman and will be discarded; and
  • The individuals for whom the embryos were created have provided written consent for embryo donation.

In short, this bill asks for embryos that would be discarded to be used instead for research with the potential to save lives! We think this bill represents a modest and ethical way to pursue the promise of this field of study.
There is no time to waste. Please join us in our Campaign to Defend Hope:
Take action;
Spread the word; and
Help save and improve the lives of millions—let’s keep politics out of science!
Take action now. Write your Members of Congress and ask them to proactively support upcoming legislation that would give hope and support scientific research.
Urge Your Senators and Representative to Support Research!
The Christopher Reeve Action Network
We Must. We Can. We Will.
Christopher Reeve Paralysis Foundation
500 Morris Avenue, Springfield, NJ 07081
(800) 225-0292
www.ChristopherReeve.org

CMT research funding and results make headlines

February 2, 2005

Filed under: Search for a Cure

From HNF-Cure.org: The first major advance comes with the passing of the “FY 2005 Labor, Health and Human Services, and Education Appropriations” bill by the United States House of Representatives. This bill includes a call by Congress to have the National Institute of Health (NIH) investigate mechanisms of increasing federal research on CMT and CMT-related disorders. The NIH is to report back to Congress by March, 2005, paving the way for increased research in the near future. An associated report the notes that [Congress is] “concerned about the prevalence of this disease and its effect on people across the age spectrum and recognizes the value of CMT research for advancing understanding into other neuromuscular disorders. The Committee encourages NIH to identify new research opportunities on CMT that could lead to a relevant program announcement or request for applications.” The legislation must be also be reviewed by the U.S. Senate, but once enacted will direct funds to the NIH to enable the review to be undertaken.

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