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Hokkaido University Collection of Scholarly and Academic Papers >
Graduate School of Medicine / Faculty of Medicine >
Peer-reviewed Journal Articles, etc >
Unusual Retinal Phenotypes in an SCA7 Family
| Title: | Unusual Retinal Phenotypes in an SCA7 Family |
| Authors: | Inaba, Hirofumi Browse this author | | Yabe, Ichiro Browse this author →KAKEN DB | | Yashima, Moemi Browse this author | | Soma, Hiroyuki Browse this author | | Nakamura, Yasushi Browse this author | | Houzen, Hideki Browse this author | | Sasaki, Hidenao Browse this author →KAKEN DB |
| Keywords: | depigmentary degeneration | | retina | | SCA7 | | spinocerebellar ataxia type 7 | | ataxia | | ADCA II |
| Issue Date: | 17-Aug-2009 |
| Publisher: | The Japanese Society of Internal Medicine |
| Journal Title: | Internal Medicine |
| Volume: | 48 |
| Issue: | 16 |
| Start Page: | 1461 |
| End Page: | 1464 |
| Publisher DOI: | 10.2169/internalmedicine.48.2072 |
| Abstract: | 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. |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/39332 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 矢部 一郎
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