PMID- 18975529
OWN - NLM
STAT- MEDLINE
DCOM- 20081209
LR  - 20131121
IS  - 1028-768X (Print)
IS  - 1028-768X (Linking)
VI  - 17
IP  - 3
DP  - 2008 Sep
TI  - [Charcot-Marie-Tooth disease].
PG  - 203-13
AB  - 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.
FAU - Lee, Yi-Chung
AU  - Lee YC
AD  - Section of Neurology, Taichung Veterans General Hospital, Taichung, Taiwan. 
      yclee@vghtc.gov.tw
FAU - Chang, Ming-Hon
AU  - Chang MH
FAU - Lin, Kon-Ping
AU  - Lin KP
LA  - chi
PT  - English Abstract
PT  - Journal Article
PT  - Review
PL  - China (Republic : 1949- )
TA  - Acta Neurol Taiwan
JT  - Acta neurologica Taiwanica
JID - 9815355
RN  - PQ6CK8PD0R (Ascorbic Acid)
SB  - IM
MH  - Animals
MH  - Ascorbic Acid/therapeutic use
MH  - Charcot-Marie-Tooth Disease/classification/etiology/*genetics/therapy
MH  - Disease Models, Animal
MH  - Humans
RF  - 84
EDAT- 2008/11/04 09:00
MHDA- 2008/12/17 09:00
CRDT- 2008/11/04 09:00
PHST- 2008/11/04 09:00 [pubmed]
PHST- 2008/12/17 09:00 [medline]
PHST- 2008/11/04 09:00 [entrez]
PST - ppublish
SO  - Acta Neurol Taiwan. 2008 Sep;17(3):203-13.