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Autosomal Dominant Spinocerebellar Degeneration with Pigmentary Retinopathy in a Japanese Family Kuniaki Tsuchiya 1 , Sadakiyo Watabiki 1 , Kiyoshi Owada 1 , Toshiki Uchihara 2 , Masahiko Yamamoto 2 , Kyoko Hamada 2 , Akiko Misawa 3 , Kazuhiro Taki 4 1Department of Neurology, Musashino Red Cross Hospital 2Department of Neurology, Tokyo Medical and Dental University 3Department of Ophthalmology, Musashino Red Cross Hospital 4Department of Pathology, Musashino Red Cross Hospital Keyword: autosomal dominant spinocerebellar degeneration , pigmentary retinopathy , mit DNA , brain CT pp.1081-1086
Published Date 1994/11/1
DOI https://doi.org/10.11477/mf.1406900712
  • Abstract
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We report a pedigree of autosomal dominant spinocerebellar degeneration associated with pig-mental retinopathy. The proband is a 75-year-old man. He noticed night blindness at the age of 10 years and a diagnosis of bilateral pigmentary retinopathy was made at age 63. At the age of 65 years, he developed dysarthria and difficulty in walking. At age 69, neurological examination revealed cerebellar signs, and brain CT scans showed mild atrophy of the brain stem and cerebel-lum. Repeated brain CT scans revealed slight progression of the brain stem and cerebellar atro-phy.


Copyright © 1994, Igaku-Shoin Ltd. All rights reserved.

基本情報

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

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