PMID- 10553995
OWN - NLM
STAT- MEDLINE
DCOM- 19991124
LR  - 20191024
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 46
IP  - 5
DP  - 1999 Nov
TI  - The Roussy-Levy family: from the original description to the gene.
PG  - 770-3
AB  - In 1926, Roussy and Levy described a large family whose members manifested an
      early onset dominantly inherited gait ataxia, pes cavus, and areflexia, which was
      eventually associated with distal muscle atrophy, postural tremor, and minor
      sensory loss. Slow nerve conduction and demyelination of nerve fibers with onion 
      bulb formations in nerve biopsy specimens led to the Roussy-Levy syndrome (RLS)
      being considered a variant of demyelinating Charcot-Marie-Tooth disease (CMT-1). 
      In the present article, we report on the long-term follow-up, on nerve biopsy
      findings, and on the underlying molecular genetic defect in members of the
      original family studied by Roussy and Levy. All patients were able to walk during
      their seventh decade of life. Morphologically, a chronic demyelinating neuropathy
      with the remarkable aspects of a focally hypertrophic myelin sheath and major
      loss of myelinated fibers was observed in nerve biopsy specimens of 3 members of 
      this family. Molecular genetic testing identified a previously unknown
      heterozygous missense point mutation which yielded an Asn131Lys substitution in
      the extracellular domain of the myelin protein zero (P0). These findings show
      that the Roussy-Levy family belongs to the CMT-1B subtype and has original
      morphological and genetic features.
FAU - Plante-Bordeneuve, V
AU  - Plante-Bordeneuve V
AD  - Department of Neurology, Centre Hospitalier-Universitaire de Bicetre, Universite 
      Paris Sud, Le Kremlin Bicetre, France.
FAU - Guiochon-Mantel, A
AU  - Guiochon-Mantel A
FAU - Lacroix, C
AU  - Lacroix C
FAU - Lapresle, J
AU  - Lapresle J
FAU - Said, G
AU  - Said G
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - 0 (Myelin P0 Protein)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Amino Acid Substitution
MH  - Charcot-Marie-Tooth Disease/*genetics/pathology
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 17
MH  - Exons
MH  - Female
MH  - Follow-Up Studies
MH  - *Genetic Variation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation, Missense
MH  - Myelin P0 Protein/genetics
MH  - Myelin Proteins/genetics
MH  - Nerve Fibers, Myelinated/*pathology
MH  - Pedigree
MH  - Sural Nerve/pathology
MH  - Time Factors
EDAT- 1999/11/30 00:00
MHDA- 1999/11/30 00:01
CRDT- 1999/11/30 00:00
PHST- 1999/11/30 00:00 [pubmed]
PHST- 1999/11/30 00:01 [medline]
PHST- 1999/11/30 00:00 [entrez]
AID - 10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u [doi]
PST - ppublish
SO  - Ann Neurol. 1999 Nov;46(5):770-3. doi:
      10.1002/1531-8249(199911)46:5<770::aid-ana13>3.0.co;2-u.