PMID- 7804455
OWN - NLM
STAT- MEDLINE
DCOM- 19950130
LR  - 20191023
IS  - 1350-7540 (Print)
IS  - 1350-7540 (Linking)
VI  - 7
IP  - 5
DP  - 1994 Oct
TI  - Inherited neuropathies.
PG  - 372-80
AB  - Charcot-Marie-Tooth neuropathy (CMT) type 1 is a genetically heterogeneous group 
      of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 
      (CMT1A), chromosome 1 (CMT1B), the X chromosome (CMTX), and to another unknown 
      autosome (CMT1C). CMT1A is most often associated with a tandem 1.5-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. CMT1B is associated with point 
      mutations in the myelin protein zero (P0) gene. The molecular defect in CMT1C is 
      unknown. CMTX is associated with mutations in the connexin 32 gene. CMT2 is an 
      axonal neuropathy of undetermined cause. One form of CMT2 maps to chromosome 1p36 
      (CMT2A). Dejerine-Sottas disease is a severe, infantile-onset demyelinating 
      polyneuropathy that may be associated with point mutations in either the PMP22 
      gene or the P0 gene. Hereditary neuropathy with liability to pressure palsies 
      (HNPP) is a recurrent, episodic demyelinating neuropathy. HNPP is associated with 
      a 1.5-Mb deletion in chromosome 17p11.2-12 and may result from reduced expression 
      of the PMP22 gene. Most examples of CMT1A and HNPP are reciprocal duplication or 
      deletion syndromes originating from unequal crossover during germ cell meiosis. 
      Familial amyloid polyneuropathy (FAP) is an autosomal dominant disorder that 
      classically presents with a sensory peripheral neuropathy and early autonomic 
      involvement. Transthyretin (TTR) is the most common constituent amyloid fibril 
      protein deposited in FAP, and there are now 28 point mutations in the TTR gene 
      described in TTR-related FAP. Liver transplantation looks promising as a 
      treatment for TTR-related FAP.
FAU - Chance, P F
AU  - Chance PF
AD  - Division of Neurology Research, Children's Hospital of Philadelphia, PA 19104.
FAU - Reilly, M
AU  - Reilly M
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  - England
TA  - Curr Opin Neurol
JT  - Current opinion in neurology
JID - 9319162
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 0 (Prealbumin)
SB  - IM
CIN - Curr Opin Neurol. 1994 Oct;7(5):367-71. PMID: 7804454
MH  - Amyloid Neuropathies/diagnosis/genetics/therapy
MH  - Charcot-Marie-Tooth Disease/diagnosis/*genetics/therapy
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 17
MH  - Humans
MH  - Myelin Proteins/genetics
MH  - Neurologic Examination
MH  - Point Mutation
MH  - Prealbumin/genetics
MH  - Prognosis
MH  - X Chromosome
RF  - 80
EDAT- 1994/10/01 00:00
MHDA- 1994/10/01 00:01
CRDT- 1994/10/01 00:00
PHST- 1994/10/01 00:00 [pubmed]
PHST- 1994/10/01 00:01 [medline]
PHST- 1994/10/01 00:00 [entrez]
AID - 10.1097/00019052-199410000-00002 [doi]
PST - ppublish
SO  - Curr Opin Neurol. 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002.