Document Detail


Juvenile Huntington's disease confirmed by genetic examination in twins.
MedLine Citation:
PMID:  10751926     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, minimental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.
Authors:
G Levy; M E Nobre; V T Cimini; S Raskin; E Engelhardt
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Arquivos de neuro-psiquiatria     Volume:  57     ISSN:  0004-282X     ISO Abbreviation:  Arq Neuropsiquiatr     Publication Date:  1999 Sep 
Date Detail:
Created Date:  2000-04-20     Completed Date:  2000-04-20     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0125444     Medline TA:  Arq Neuropsiquiatr     Country:  BRAZIL    
Other Details:
Languages:  eng     Pagination:  867-9     Citation Subset:  IM    
Affiliation:
Instituto de Neurologia Deolindo Couto, Universidade Federal do Rio de Janeiro (UFRJ), Brasil.
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MeSH Terms
Descriptor/Qualifier:
Adult
Diseases in Twins*
Female
Humans
Huntington Disease / genetics*
Phenotype

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


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