Document Detail

Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia.
MedLine Citation:
PMID:  9109905     Owner:  NLM     Status:  MEDLINE    
We report a family with autosomal recessive spastic paraplegia. Patient 1 was a 37-year-old woman and patient 2 was her 35-year-old sister. They showed spastic paraplegia with mild truncal ataxia and dysarthria but no dementia, epilepsy, myoclonus, or other involuntary movements. They were the products of a consanguineous marriage but the parents were neurologically normal. We analyzed the CAG repeats of the dentatorubral-pallidoluysian atrophy (DRPLA) gene in the family members. The patients were homozygous for an allele carrying an intermediate size of CAG repeats (41 or 40 repeats) in the DRPLA gene; the parents were heterozygous for an intermediate allele and a normal allele in this gene. Homozygosity for an intermediate allele in the DRPLA gene appears to have resulted in spastic paraplegia different from any DRPLA phenotype.
K Kurohara; Y Kuroda; H Maruyama; H Kawakami; M Yukitake; M Matsui; S Nakamura
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neurology     Volume:  48     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1997 Apr 
Date Detail:
Created Date:  1997-05-15     Completed Date:  1997-05-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1087-90     Citation Subset:  AIM; IM    
Department of Internal Medicine, Saga Medical School, Japan.
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MeSH Terms
Brain Diseases / genetics
Dentate Gyrus / pathology,  physiology*
Electrophoresis, Polyacrylamide Gel
Genes, Recessive
Globus Pallidus / pathology,  physiology*
Paraplegia / genetics*
Polymerase Chain Reaction
Red Nucleus / pathology,  physiology*
Repetitive Sequences, Nucleic Acid*

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