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Article

Unusual retinal phenotypes in an SCA7 family.

Internal medicine (Tokyo, Japan) - 1 Jan 2009

Inaba Hirofumi, Yabe Ichiro, Yashima Moemi, Soma Hiroyuki, Nakamura Yasushi, Houzen Hideki, Sasaki Hidenao

Abstract excerpt

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...

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PMID: 19687599
DOI: 10.2169/internalmedicine.48.2072

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