PMID- 11784354
OWN - NLM
STAT- MEDLINE
DCOM- 20020301
LR  - 20191105
IS  - 1351-5101 (Print)
IS  - 1351-5101 (Linking)
VI  - 8
IP  - 6
DP  - 2001 Nov
TI  - Hereditary neuropathy with liability to pressure palsies associated with central 
      nervous system myelin lesions.
PG  - 689-92
AB  - Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal 
      dominant disorder most commonly caused by a 1.5-Mb deletion in chromosome 17p11.2 
      which contains the peripheral myelin protein-22 (PMP22) gene. Mutations resulting 
      in functional loss of one PMP22 gene copy are less frequent. We present a 
      51-year-old patient with a l.5-Mb deletion in chromosome 17p11.2 who exhibited 
      signs of peripheral as well as central nervous system lesions. He gave a history 
      of recurrent episodes of limb numbness and weakness with spontaneous but 
      incomplete recovery since age 20. His father and two brothers had similar 
      symptoms. Neurological examination revealed signs of multiple mononeuropathy 
      associated with frontal lobe, corticospinal tract and cerebellar dysfunction, as 
      well as signs of initial cognitive impairment. Electrophysiological 
      investigations showed a demyelinating peripheral nerve disease with multiple 
      conduction blocks and conduction disturbances in both optic nerves. Magnetic 
      resonance imaging of the brain revealed multiple subcortical and periventricular 
      foci of myelin lesions. The association of central and peripheral nervous system 
      lesions in this patient indicates a possible role of PMP22 not only in peripheral 
      but also in central nervous system myelin structure.
FAU - Dackovic, J
AU  - Dackovic J
AD  - Institute of Neurology, Clinical Centre of Serbia, Belgrade, Serbia, PCR Center, 
      Faculty of Biology, University of Belgrade, Serbia.
FAU - Rakocevic-Stojanovic, V
AU  - Rakocevic-Stojanovic V
FAU - Pavlovic, S
AU  - Pavlovic S
FAU - Zamurovic, N
AU  - Zamurovic N
FAU - Dragasevic, N
AU  - Dragasevic N
FAU - Romac, S
AU  - Romac S
FAU - Apostolski, S
AU  - Apostolski S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Eur J Neurol
JT  - European journal of neurology
JID - 9506311
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Brain/*pathology
MH  - Chromosomes, Human, Pair 17
MH  - Gene Deletion
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - Myelin Proteins/genetics
MH  - Myelin Sheath/*pathology
EDAT- 2002/01/11 10:00
MHDA- 2002/03/02 10:01
CRDT- 2002/01/11 10:00
PHST- 2002/01/11 10:00 [pubmed]
PHST- 2002/03/02 10:01 [medline]
PHST- 2002/01/11 10:00 [entrez]
AID - 306 [pii]
AID - 10.1046/j.1468-1331.2001.00306.x [doi]
PST - ppublish
SO  - Eur J Neurol. 2001 Nov;8(6):689-92. doi: 10.1046/j.1468-1331.2001.00306.x.