Document Detail

Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom.
MedLine Citation:
PMID:  8041369     Owner:  NLM     Status:  MEDLINE    
Dentatorubropallidoluysian atrophy (DRPLA) has been described chiefly in Japan and appears to be rare in Europe. It is of autosomal dominant inheritance. We report the first British family with DRPLA, which contains four affected individuals in two generations. The diagnosis was made at autopsy in one case. The age of onset of symptoms ranged from 15 to 38 years, and clinical features included ataxia, dementia, chorea, and dystonia; three patients had generalized seizures. The three living patients resemble those with early Huntington's disease clinically. Three main phenotypes of DRPLA have been proposed: an ataxo-choreoathetoid type, a pseudo-Huntington type, and a myoclonic epilepsy type. The variation in clinical presentation in our family demonstrates the difficulty in applying such classifications to this and other dominantly inherited disorders with phenotypic variation. DRPLA is likely to be confused with Huntington's disease in European families.
T T Warner; G G Lennox; I Janota; A E Harding
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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:  9     ISSN:  0885-3185     ISO Abbreviation:  Mov. Disord.     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-08-25     Completed Date:  1994-08-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  289-96     Citation Subset:  IM    
University Department of Clinical Neurology, Institute of Neurology, London, England.
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MeSH Terms
Cerebellar Nuclei / pathology*
Chromosome Aberrations / genetics*
Chromosome Disorders
Dementia / genetics*,  pathology
Diagnosis, Differential
Epilepsy, Generalized / genetics*,  pathology
Genes, Dominant / genetics*
Gliosis / genetics,  pathology
Globus Pallidus / pathology*
Huntington Disease / genetics*,  pathology
Medulla Oblongata / pathology
Middle Aged
Nerve Degeneration / genetics*,  physiology
Neurons / pathology
Pons / pathology
Red Nucleus / pathology*
Spinocerebellar Degenerations / genetics*,  pathology
Thalamic Nuclei / pathology

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

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