PMID- 20976668
OWN - NLM
STAT- MEDLINE
DCOM- 20110421
LR  - 20160526
IS  - 1098-8947 (Electronic)
IS  - 0743-684X (Linking)
VI  - 27
IP  - 1
DP  - 2011 Jan
TI  - Clinical implications of peripheral myelin protein 22 for nerve compression and 
      neural regeneration: a review.
PG  - 67-74
LID - 10.1055/s-0030-1267832 [doi]
AB  - Peripheral myelin protein 22 (PMP22) is a major component of the peripheral 
      myelin sheath. The PMP22 gene is located on chromosome 17p11.2, and defects in 
      PMP22 gene have been implicated in several common inherited peripheral 
      neuropathies. Hereditary neuropathy with liability to pressure palsies (HNPP), 
      Charcot-Marie Tooth disease type 1A (CMT1A), Dejerine-Sottas syndrome, and 
      congenital hypomyelinating neuropathy are all associated with defects in PMP22 
      gene. The disease phenotypes mirror the range of expression of PMP22 due to the 
      corresponding genetic defect. HNPP, characterized by a milder recurrent episodic 
      focal demyelinating neuropathy, is attributed to a deletion leading to PMP22 
      underexpression. On the other end of the spectrum, CMT1A leads to a more uniform 
      demyelination and axonal loss, resulting in severe progressive distal weakness 
      and paresthesias; it is due to a duplication at 17p11.2 leading to PMP22 
      overexpression. Additional point mutations result in varying phenotypes due to 
      dysfunction of the resultant PMP22 protein. All inherited neuropathies are 
      diagnosed with a combination of physical findings on examination, 
      electromyography, sural nerve biopsies, and genetic testing. Treatment and 
      management of these disorders differ depending on the underlying genetic defect, 
      nerves involved, and resulting functional impairments. A review of current 
      literature elucidates clinical, microsurgical implications, and management of 
      patients with PMP22-related neuropathy.
CI  - (c) Thieme Medical Publishers.
FAU - Hui-Chou, Helen G
AU  - Hui-Chou HG
AD  - Division of Plastic and Reconstructive Surgery, Johns Hopkins/University of 
      Maryland Plastic Surgery Program, Baltimore, USA.
FAU - Hashemi, Sharyhar S
AU  - Hashemi SS
FAU - Hoke, Ahmet
AU  - Hoke A
FAU - Dellon, A Lee
AU  - Dellon AL
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20101025
PL  - United States
TA  - J Reconstr Microsurg
JT  - Journal of reconstructive microsurgery
JID - 8502670
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - Charcot-Marie-Tooth disease, Type 4E
RN  - Tomaculous neuropathy
SB  - IM
MH  - Arthrogryposis/genetics/surgery
MH  - Charcot-Marie-Tooth Disease/*genetics/surgery
MH  - Disease Progression
MH  - Electromyography
MH  - Gene Expression
MH  - Hereditary Sensory and Motor Neuropathy/*genetics/surgery
MH  - Humans
MH  - Microsurgery
MH  - Myelin Proteins/*genetics/metabolism
MH  - Phenotype
MH  - Point Mutation
EDAT- 2010/10/27 06:00
MHDA- 2011/04/22 06:00
CRDT- 2010/10/27 06:00
PHST- 2010/10/27 06:00 [entrez]
PHST- 2010/10/27 06:00 [pubmed]
PHST- 2011/04/22 06:00 [medline]
AID - 10.1055/s-0030-1267832 [doi]
PST - ppublish
SO  - J Reconstr Microsurg. 2011 Jan;27(1):67-74. doi: 10.1055/s-0030-1267832. Epub 
      2010 Oct 25.