[Charcot-Marie-Tooth disease].
Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common inherited peripheral neuropathy, comprised by a group of genetically heterogeneous disorders that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes. It can be categorized according to its electrophysiological or pathological features, transmission patterns, age of disease onset, and molecular pathology. CMT type 1 (CMT1; MIM 118200) is a group of autosomal dominant-inherited demyelinating neuropathies with a disease onset at or after childhood. Five different subtypes have been identified based on different causative genes. Among them, CMT1A (MIM #118220) is most common and is usually associated with a duplication of a 1.5-Mb region on chromosome 17p11.2, which includes peripheral myelin protein 22 gene (PMP22; MIM *601097). Currently, there is no cure or obviously effective disease-modifying treatment for CMT. Two potential effective therapeutic agents for CMT1A were investigated recently. One is ascorbic acid and another is neurotrophin-3 (NT-3), an important component of the Schwann cell autocrine survival loop. Early diagnosis can facilitate CMT patients to modify their life styles timely for minimizing nerve injury to delay or avoid disability. Molecular diagnosis of CMT can provide the basis for appropriate genetic counseling and further CMT research.
Lee
Yi-Chung
YC
Section of Neurology, Taichung Veterans General Hospital, Taichung, Taiwan. yclee@vghtc.gov.tw
Chang
Ming-Hon
MH
Lin
Kon-Ping
KP
D000818:Animals; D001205:Ascorbic Acid / Q000627:therapeutic use; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D004195:Disease Models, Animal; D006801:Humans
D001205:Ascorbic Acid