Document Detail


Clinical and electroencephalographic findings in juvenile type DRPLA.
MedLine Citation:
PMID:  9568927     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present five different types of dentatorubral-pallidoluysian atrophy in one Japanese family. Two siblings and their paternal uncle manifested the juvenile type dentatorubral-pallidoluysian atrophy, the siblings' father had the late-adult type, and another paternal uncle had the early-adult type. Gene analysis confirmed the diagnosis for the proband and her sibling. By following the clinical courses and electroencephalographic changes, we found that the types of epileptic seizures and the electroencephalograms of the juvenile dentatorubral-pallidoluysian atrophy patients changed as the illness progressed. The siblings exhibited different levels of clinical severity despite the similar deoxyribonucleic acid expansion detected in their lymphocytes.
Authors:
S Saitoh; M Y Momoi; T Yamagata; M Miyao; K Suwa
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  18     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1998 Mar 
Date Detail:
Created Date:  1998-06-19     Completed Date:  1998-06-19     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  265-8     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Atrophy
Dentate Gyrus / pathology*
Electroencephalography*
Female
Globus Pallidus / pathology*
Humans
Red Nucleus / pathology*

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