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Title
  • en Unusual Retinal Phenotypes in an SCA7 Family
Creator
    • en Inaba, Hirofumi
    • en Yashima, Moemi
    • en Soma, Hiroyuki
    • en Nakamura, Yasushi
    • en Houzen, Hideki
Accessrights open access
Subject
  • Other en depigmentary degeneration
  • Other en retina
  • Other en SCA7
  • Other en spinocerebellar ataxia type 7
  • Other en ataxia
  • Other en ADCA II
  • NDC 493
Description
  • Abstract en We report the cases of a father and his son with spinocerebellar ataxia type 7 (SCA7), a disorder rarely reported in Japan. The father had noticed dysarthria at age 38, and gait instability at age 46. Visual disturbance was noted 3 years later. Neurological examination at age 54 revealed visual disturbance, dysarthria, and cerebellar ataxia in all four extremities and the trunk. Cranial MRI showed moderate atrophy of the brain stem and cerebellar hemispheres. However, no retinal degeneration was found. The son was 16 years old at our first examination. Since age 6, his visual acuity began to decrease; at age 10, he noticed clumsiness in his hands. Six years later he began to experience gait instability. Neurological examination revealed visual disturbance and cerebellar ataxia. He was diagnosed with SCA7 by genetic analysis. His ophthalmologic examination showed retinal degeneration without pigmented spots, which is different from those of retinal phenotypes previously described in SCA7.
Publisher en The Japanese Society of Internal Medicine
Date
    Issued2009-08-17
Language
  • eng
Resource Type journal article
Version Type AM
Identifier HDL http://hdl.handle.net/2115/39332
Relation
  • isVersionOf DOI https://doi.org/10.2169/internalmedicine.48.2072
Journal
    • PISSN 0918-2918
    • EISSN 1349-7235
      • en Internal Medicine
      • Volume Number48 Issue Number16 Page Start1461 Page End1464
File
    • fulltext SCA7_Ver14.pdf
    • 231.12 KB (application/pdf)
      • Issued2009-08-17
Oaidate 2023-07-26