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Autosomal Recessive Hereditary Cortical Cerebellar Atrophy with Striatal Degeneration:Two Siblings Showing Choreoathetoid Movement, Ataxia, Dementia, and Amenorrhea Kiyoshi Iwabuchi 1 , Yoshihide Nakazawa 2 , Jun-ichiro Akai 3 , Saburo Yagishita 4 , Naoji Amano 5 1Department of Neuropathology, Tokyo Institute of Psychiatry 2Division of Psychiatry, Kanoiwa Hospital 3Kyorin University, School of Health Science 4Department of Pathology , Kanagawa Rehabilitation Center 5Department of Psychiatry, Kanagawa Rehabilitation Center Keyword: cortical cerebellar atrophy , amenorhea , ataxia , chorea , autosomal recessive pp.563-571
Published Date 1994/6/1
DOI https://doi.org/10.11477/mf.1406900648
  • Abstract
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We present two siblings with hereditary corti-cal cerebellar atrophy (CCA) , who showed peculiar clinical features. Their unaffected parents are cousins. The mode of inheritance in this family was autosomal recessive. Both patients developed invol-untary movement and ataxia during the fourth decade. The proband (patient 1) was the elder sister. She developed choreoathetoid involuntary movement and cerebellar ataxia at the age of 32. At the age of 39, she showed mental deterioration and marked gait disturbance due to severe ataxia and amyotrophy.


Copyright © 1994, 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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