Charcot-Marie-Tooth Disease

[notasperfectasyou]

Scientists find neurological gene mutation
ANN ARBOR, Mich., June 21 (UPI) -- U.S. scientists have discovered the gene mutation that produces one form of Charcot-Marie-Tooth disorder -- an inherited neurological disease.
Researchers at the University of Michigan -- led by Professor Miriam Meisler -- said their finding means a genetic test will be possible for people with a less common subtype of the disorder -- one that, until now, was unidentified and had an unknown genetic basis.

Charcot-Marie-Tooth disorder affects one in 2,500 people in the United States, usually beginning in youth or by mid-adulthood. Researchers say it is actually a group of related disorders that affect the body's peripheral nerves, with symptoms such as pain and muscle weakness in the feet and legs that lead to foot deformities, tripping and difficulty walking.

The research is detailed online in the journal Nature and will appear in print at a later date.

another small step. napay

[euphoniaa]

Like I said on the Schwann cell thread, I'm glad they keep researching this stuff, but they have already identified dozens of varieties of Charcot-Marie-Tooth disease, as you can see here:

http://www.neuro.wustl.edu/neuromuscula ... sn.html#pp

HNPP, the hereditary peripheral neuropathy in my family, is an abnormality of the same chromosome, but it's kinda the opposite of CMT. The same gene that's missing in HNPP is duplicated in CMT.