Document Detail

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.
MedLine Citation:
PMID:  7824105     Owner:  NLM     Status:  MEDLINE    
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with variable clinical phenotypes. Progressive ataxia, choreoathetosis, and dementia are the main clinical features of adult-onset cases, whereas the main feature in juvenile-onset DRPLA is progressive myoclonus epilepsy. Earlier onset is apparent in successive generations (anticipation). The molecular abnormality underlying DRPLA is an expanded, unstable CAG trinucleotide repeat on chromosome 12p. We analyzed 71 DNA samples obtained from 12 Japanese DRPLA pedigrees that included 38 affected individuals. Normal alleles had 7 to 23 repeats, DRPLA alleles 53 to 88 repeats. DRPLA alleles also were detected in five asymptomatic family members. Patients with juvenile onset had significantly larger repeats than did those with adult onset, and there was a significant negative correlation between CAG repeat length and age at onset. In 80% of the paternal transmissions, there was an increase of more than five repeats, whereas all the maternal transmissions showed either a decrease or an increase of fewer than five repeats. There was a significant correlation between father-child differences in repeat length and differences in age at onset. The analysis of CAG repeat length is a reliable diagnostic test for DRPLA and is of value for the presymptomatic detection of individuals at risk. The expansion of CAG repeats is important in phenotypic variation and anticipation. In addition, the sex of the transmitting parent has a significant effect on the molecular mechanism of anticipation.
O Komure; A Sano; N Nishino; N Yamauchi; S Ueno; K Kondoh; N Sano; M Takahashi; N Murayama; I Kondo
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Publication Detail:
Type:  Clinical Trial; Comparative Study; Controlled Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  45     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1995 Jan 
Date Detail:
Created Date:  1995-02-10     Completed Date:  1995-02-10     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  143-9     Citation Subset:  AIM; IM    
Department of Neurology, Utano National Hospital, Kyoto, Japan.
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MeSH Terms
Age of Onset
Base Sequence
Brain / metabolism
Cell Line
DNA / analysis*,  blood,  isolation & purification
DNA Primers
Genetic Variation*
Middle Aged
Molecular Sequence Data
Myoclonic Cerebellar Dyssynergia / genetics*,  pathology,  physiopathology
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid*
Reg. No./Substance:
0/DNA Primers; 9007-49-2/DNA

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

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