Document Detail

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.
MedLine Citation:
PMID:  2494568     Owner:  NLM     Status:  MEDLINE    
We describe 19 cases of a familial syndrome consisting of infantile optic atrophy and an early movement disorder in which chorea predominated. About one-half the patients developed spastic paraparesis during the second decade of life. Ataxia and cognitive deficits were common, usually of mild degree. Seventeen of the patients were females. Sixteen had similarly affected siblings, but none had affected parents. All but one belonged to the Iraqi Jewish community in Israel, giving a minimal prevalence rate in this ethnic group of about 1:10,000.
H Costeff; N Gadoth; N Apter; M Prialnic; H Savir
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neurology     Volume:  39     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1989 Apr 
Date Detail:
Created Date:  1989-05-10     Completed Date:  1989-05-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  595-7     Citation Subset:  AIM; IM    
Neuropediatric Unit, Loewenstein Hospital Rehabilitation Center, Ra'anana, Israel.
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MeSH Terms
Eye / pathology
Eye Abnormalities*
Movement Disorders / genetics*
Paraplegia / genetics*
Spasm / genetics*

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