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Japanese

Hereditary Dentatorubropallidoluysian Atrophy : Clinical Variants in a Family and Degeneration of Cerebral White Matter in a Proband Kotaro Miyashita 1 , Takashi Inuzuka 1 , Atsushi Ishikawa 2 , Hiroshi Kondo 1 , Akio Kawakami 3 , Shigeki Takeda 4 , Fusahiro Ikuta 4 , Tatsuhiko Yuasa 1 1Department of Neurology and Pathology, Brain Research Institute, Niigata University 2Department of Neurology, National Sanatorium West Ojiya Hospital 3Department of Neurology, Kaetsu Hospital Keyword: DRPLA , chorea , myoclonus epilepsy , ataxochoreoathetosis , white matter degeneration pp.279-284
Published Date 1992/3/1
DOI https://doi.org/10.11477/mf.1406900315
  • Abstract
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We describe a family with hereditary dentato-rubropallidoluysian atrophy (DRPLA). 4 patients through 3 successive generations showed a wide clinical variety. The female proband with onset in the elderly developed choreiform involuntary move-ment, dementia, hyperreflexia and, at the progres-sive stage, mild ataxia. However she had never displayed epilepsy and myoclonus. The 2 sons showed dementia, choreoathetoid movement and ataxia. The grandson developed typical signs and symptoms of progressive myoclonus epilepsy. The brain CT in the proband showed severe cerebellar and brain stem atrophy, moderate cerebral cortical atrophy and diffuse low density lesions in the deep cerebral white matter. Her neuropathological exam-ination revealed the atrophy and gliosis of cerebral and cerebellar white matter concomitant with both dentatorubral and pallidoluysian system degenera-tion. The present study indicates that hereditary DRPLA can include multiple clinical variants even in the same family and the degeneration of cerebral and cerebellar white matter besides dentatorubral and pallidoluysian system.


Copyright © 1992, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

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