Document Detail


Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
MedLine Citation:
PMID:  15992829     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a father and daughter with Dejerine-Sottas syndrome and bilateral vestibular loss due to an L71P missense mutation in the peripheral myelin protein 22 (PMP22). The combination of vestibular loss and peripheral neuropathy led to profound imbalance at a young age. It is important to recognize this combination of peripheral nerve and vestibular deficits since rehabilitation strategies and prognosis are different.
Authors:
Joanna Jen; Robert H Baloh; Akira Ishiyama; Robert W Baloh
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  237     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-09-26     Completed Date:  2005-11-30     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  21-4     Citation Subset:  IM    
Affiliation:
Department of Neurology, School of Medicine, University of California, Los Angeles, CA 90095-1769, United States.
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MeSH Terms
Descriptor/Qualifier:
Adult
Family
Hearing Loss / etiology,  physiopathology
Hereditary Sensory and Motor Neuropathy / genetics*,  physiopathology*
Humans
Male
Middle Aged
Myelin Proteins / genetics*
Neurologic Examination
Point Mutation
Polymorphism, Genetic
Vestibular Diseases / genetics*,  physiopathology*
Vestibular Function Tests
Grant Support
ID/Acronym/Agency:
DC05224/DC/NIDCD NIH HHS
Chemical
Reg. No./Substance:
0/Myelin Proteins; 0/PMP22 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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