PMID- 10716658
OWN - NLM
STAT- MEDLINE
DCOM- 20000330
LR  - 20101118
IS  - 0271-8235 (Print)
IS  - 0271-8235 (Linking)
VI  - 19
IP  - 4
DP  - 1999
TI  - Inherited peripheral neuropathy.
PG  - 353-62
AB  - Hereditary disorders of the peripheral nerves constitute a group of frequently 
      encountered neurological diseases. Charcot-Marie-Tooth neuropathy type 1 (CMT1) 
      is genetically heterogeneous and characterized by demyelination with moderately 
      to severely reduced nerve conduction velocities, absent muscle stretch reflexes 
      and onion bulb formation. Genetic loci for CMT1 map to chromosome 17 (CMT1A), 
      chromosome 1 (CMT1B), and another unknown autosome (CMT1C). CMT1A is most often 
      associated with a tandem 1.5-megabase (Mb) duplication in chromosome 17p11.2-12, 
      or in rare patients may result from a point mutation in the peripheral myelin 
      protein-22 (PMP22) gene. CMT1 B result from point mutations in the myelin protein 
      zero (Po or MPZ) gene. The molecular defect in CMT1 C is unknown. Mutations in 
      the early growth response 2 gene (EGR2) are also associated with demyelinating 
      neuropathy. Other rare forms of demyelinating peripheral neuropathies map to 
      chromosome 8q, 10q, and 11q. X-linked Charcot-Marie-Tooth neuropathy (CMTX), 
      which has clinical features similar to CMT1, is associated with mutations in the 
      connexin32 gene. Charcot-Marie-Tooth neuropathy type 2 (CMT2) is characterized by 
      normal or mildly reduced nerve conduction velocity with decreased amplitude and 
      axonal loss without hypertrophic features. One form of CMT2 maps to chromosome 1 
      p36 (CMT2A), another to chromosome 3p (CMT2B) and another to 7p (CMT2D). 
      Dejerine-Sottas disease (DSD), also called hereditary motor and sensory 
      neuropathy type III (HMSNIII), is a severe, infantile-onset demyelinating 
      polyneuropathy that may be associated with point mutations in either the PMP22 
      gene or the Po gene and shares considerable clinical and pathological features 
      with CMT1. Hereditary neuropathy with liability to pressure palsies (HNPP) is an 
      autosomal dominant disorder that results in a recurrent, episodic demyelinating 
      neuropathy. HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 
      and results from reduced expression of the PMP22 gene. CMT1A and HNPP are 
      reciprocal duplication/deletion syndromes originating from unequal crossover 
      during germ cell meiosis.
FAU - Keller, M P
AU  - Keller MP
AD  - Department of Pediatrics, University of Washington School of Medicine, Seattle 
      98195-6320, USA.
FAU - Chance, P F
AU  - Chance PF
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Semin Neurol
JT  - Seminars in neurology
JID - 8111343
SB  - IM
MH  - Charcot-Marie-Tooth Disease/genetics
MH  - Demyelinating Diseases/genetics
MH  - Genetic Linkage/genetics
MH  - Hereditary Sensory and Autonomic Neuropathies/genetics
MH  - Humans
MH  - Peripheral Nervous System Diseases/*genetics
MH  - X Chromosome/genetics
RF  - 110
EDAT- 2000/03/15 09:00
MHDA- 2000/04/01 09:00
CRDT- 2000/03/15 09:00
PHST- 2000/03/15 09:00 [pubmed]
PHST- 2000/04/01 09:00 [medline]
PHST- 2000/03/15 09:00 [entrez]
AID - 10.1055/s-2008-1040850 [doi]
PST - ppublish
SO  - Semin Neurol. 1999;19(4):353-62. doi: 10.1055/s-2008-1040850.