Neurologists Come Together to Tackle Charcot-Marie-Tooth disease

June 11, 2010

Neurologists Come Together to Tackle Charcot-Marie-Tooth

Neurologists around the nation are working together in a nationwide study

focusing on Charcot-Marie-Tooth disease, a painful nerve condition that affects

more than 100,000 Americans. The team and its Inherited Neuropathies Consortium

is supported with $6.25 million through the National Institutes of Health Rare

Diseases Clinical Research Network for the next five years.

CMT is one of the most common genetic nerve disorders and is the most common

inherited form of neuropathy, but there is no effective treatment.

" This disease can really have a severe impact on a person's health, yet there

just isn't as much awareness about it as there is for some other conditions, "

said neurologist Herrmann, MBBCh, associate professor in the Department of

Neurology at the University of Rochester Medical Center and the lead

investigator for the CMT Research Network in Rochester. " Nevertheless,

Charcot-Marie-Tooth can be devastating for patients. "

The project, which is based at Wayne State University, brings together experts

who are learning more about the disease and searching for new treatments.

Herrmann and colleagues are part of a group compiling a database of people in

North America who have CMT and who have volunteered to make their information

available to researchers. The team is also working to pinpoint more precisely

the different genes at work in the disease and how each affects the health of

patients; scientists are aware of more than three dozen gene mutations that can

cause CMT.

Currently Herrmann and colleagues from Wayne State University and s Hopkins

are conducting a study in 110 people measuring the effectiveness of high doses

of Vitamin C for treating CMT. With the new funding, the expanded team plans to

conduct a new study aimed at testing a potential treatment.

In late 2008 neurologists created the first diagnostic guidelines for

neuropathy. Herrmann himself is also an expert in the use of skin biopsy to

identify sensory neuropathies like CMT and track their progression. He is

currently developing a new non-invasive technique that uses a specialized

microscope to look beneath the skin to gauge the condition of a person's nerves

in the fingers, as a way to possibly eliminate the need for a biopsy in some

patients.

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