Document Detail

Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.
MedLine Citation:
PMID:  8557266     Owner:  NLM     Status:  MEDLINE    
Dentatorubral and pallidolysian atrophy (DRPLA), a neurological disorder thought to be rare in European populations, is caused by a triplet repeat expansion in the B37 gene on chromosome 12. This disorder can phenotypically mimic Huntington's disease (HD) which is also caused by a repeat expansion. We have analysed 139 affected individuals for the HD triplet repeat expansion and found 132 patients had one normal and one expanded allele. Two patients had an expansion on both chromosomes and five patients had two normal-size alleles. Of these five patients, two were considered to be atypical Two patients who were father and daughter were found to have an expansion of the DRPLA triplet repeat. This therefore constitutes the second such family described in the United Kingdom.
M Connarty; N R Dennis; C Patch; J N Macpherson; J F Harvey
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  97     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1996 Jan 
Date Detail:
Created Date:  1996-02-23     Completed Date:  1996-02-23     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  76-8     Citation Subset:  IM    
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
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MeSH Terms
Base Sequence
Chromosome Aberrations*
Chromosome Disorders*
Chromosomes, Human, Pair 12*
DNA / blood
Huntington Disease / classification,  genetics*
Nervous System Diseases / classification,  genetics*
Paralysis / genetics
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid*
Tremor / genetics
Reg. No./Substance:

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