| Unusual retinal phenotypes in an SCA7 family. | |
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MedLine Citation:
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PMID: 19687599 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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Hirofumi Inaba; Ichiro Yabe; Moemi Yashima; Hiroyuki Soma; Yasushi Nakamura; Hideki Houzen; Hidenao Sasaki |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-08-17 |
Journal Detail:
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Title: Internal medicine (Tokyo, Japan) Volume: 48 ISSN: 1349-7235 ISO Abbreviation: Intern. Med. Publication Date: 2009 |
Date Detail:
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Created Date: 2009-08-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9204241 Medline TA: Intern Med Country: Japan |
Other Details:
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Languages: eng Pagination: 1461-4 Citation Subset: IM |
Affiliation:
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Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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