PMID- 11466642
OWN - NLM
STAT- MEDLINE
DCOM- 20010927
LR  - 20091119
IS  - 0363-5023 (Print)
IS  - 0363-5023 (Linking)
VI  - 26
IP  - 4
DP  - 2001 Jul
TI  - Hereditary neuropathy with liability to pressure palsies mimicking multifocal 
      compression neuropathy.
PG  - 670-4
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent 
      disorder of the peripheral nervous system characterized by reversible episodes of 
      sensorimotor deficits after neural compression injuries. Also known as tomaculous 
      neuropathy, HNPP is further characterized ultrastructurally by multiple focal 
      thickenings (tomacula) of peripheral myelin and has an autosomal dominant 
      inheritance. The neuropathology of HNPP includes a partial deletion encoding the 
      peripheral myelin protein 22 (PMP-22) gene on chromosome 17, resulting in 
      underexpression of PMP-22. We describe multiple compression mononeuropathies in 
      an individual with HNPP and report neuropathologic findings in 2 clinically 
      asymptomatic family members. Diagnosis was confirmed using pulsed-field gel 
      electrophoresis. We believe that this diagnosis is clinically underappreciated by 
      hand surgeons and should be considered in the differential diagnosis of patients 
      with atypical presentations of compression neuropathies.
FAU - Lane, J E
AU  - Lane JE
AD  - Division of Orthopaedic Surgery, Department of Surgery, Mercer University School 
      of Medicine, The Medical Center of Central Georgia, Macon, GA 31207-0001, USA.
FAU - Foulkes, G D
AU  - Foulkes GD
FAU - Hope, T D
AU  - Hope TD
FAU - Mayorov, V I
AU  - Mayorov VI
FAU - Adkison, L
AU  - Adkison L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - J Hand Surg Am
JT  - The Journal of hand surgery
JID - 7609631
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
CIN - J Hand Surg Am. 2002 Mar;27(2):362-3. PMID: 11901405
CIN - J Hand Surg Am. 2002 Mar;27(2):363. PMID: 11901406
MH  - Adult
MH  - Chromosome Deletion
MH  - Electrophoresis, Gel, Pulsed-Field
MH  - Hereditary Sensory and Motor Neuropathy/*diagnosis/genetics
MH  - Humans
MH  - Male
MH  - Mononeuropathies/*diagnosis
MH  - Myelin Proteins/metabolism
MH  - Nerve Compression Syndromes/*diagnosis/genetics
MH  - Polymerase Chain Reaction
MH  - Pressure
EDAT- 2001/07/24 10:00
MHDA- 2001/09/28 10:01
CRDT- 2001/07/24 10:00
PHST- 2001/07/24 10:00 [pubmed]
PHST- 2001/09/28 10:01 [medline]
PHST- 2001/07/24 10:00 [entrez]
AID - S0363-5023(01)55320-4 [pii]
AID - 10.1053/jhsu.2001.26029 [doi]
PST - ppublish
SO  - J Hand Surg Am. 2001 Jul;26(4):670-4. doi: 10.1053/jhsu.2001.26029.