Unusual Retinal Phenotypes in an SCA7 Family

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

Unusual Retinal Phenotypes in an SCA7 Family

Inaba, Hirofumi; Yabe, Ichiro; Yashima, Moemi et al.

Internal Medicine, 2009, 48(16), 1461-1464

Permalink : https://hdl.handle.net/2115/39332

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アクセス権	open access
URI	https://hdl.handle.net/2115/39332
タイトル	Unusual Retinal Phenotypes in an SCA7 Family
著者	Inaba, Hirofumi ; Yabe, Ichiro ; Yashima, Moemi ; Soma, Hiroyuki ; Nakamura, Yasushi ; Houzen, Hideki ; Sasaki, Hidenao
著者名 Inaba, Hirofumi
e-Rad_Researcher 60372273 著者名 Yabe, Ichiro
著者名 Yashima, Moemi
著者名 Soma, Hiroyuki
著者名 Nakamura, Yasushi
著者名 Houzen, Hideki
e-Rad_Researcher 80281806 著者名 Sasaki, Hidenao
言語	英語
キーワード	depigmentary degeneration
	retina
	SCA7
	spinocerebellar ataxia type 7
	ataxia
	ADCA II
発行日	2009-08-17
出版者	The Japanese Society of Internal Medicine
収録物名	Internal Medicine
巻(号)	48(16)
ページ	1461-1464
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
PISSN	0918-2918
EISSN	1349-7235
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.2169/internalmedicine.48.2072