Document Detail

Two sisters with generalized dystonia associated with homocystinuria.
MedLine Citation:
PMID:  2057008     Owner:  NLM     Status:  MEDLINE    
Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.
A Berardelli; P D Thompson; M Zaccagnini; O Giardini; P D'Eufemia; R Massoud; M Manfredi
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  6     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  1991  
Date Detail:
Created Date:  1991-08-01     Completed Date:  1991-08-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  163-5     Citation Subset:  IM    
Department of Neurological Sciences, University of Rome La Sapienza, Italy.
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MeSH Terms
Amino Acids / urine
Basal Ganglia / pathology
Cerebellum / pathology
Dystonia / diagnosis,  genetics*
Homocystinuria / diagnosis,  genetics*
Magnetic Resonance Imaging
Neurologic Examination
Reg. No./Substance:
0/Amino Acids

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

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