Unusual Retinal Phenotypes in an SCA7 Family
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概要
- 論文の詳細を見る
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.
- The Japanese Society of Internal Medicineの論文
著者
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Nakamura Yasushi
Department of Clinical Laboratory Medicine, Wakayama Medical University
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Houzen Hideki
Department Of Neurology Obihiro Kosei Hospital
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Houzen Hideki
Department Of Neurology Obihiro Kosei General Hospital
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YABE Ichiro
Department of Neurology, Graduate School of Medicine, Hokkaido University
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SOMA Hiroyuki
Department of Neurology, Graduate School of Medicine, Hokkaido University
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SASAKI Hidenao
Department of Neurology, Graduate School of Medicine, Hokkaido University
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Nakamura Yasushi
Department Of Clinical Laboratory Medicine Wakayama Medical University
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Sasaki Hidenao
Department Of Neurology Graduate School Of Medicine Hokkaido University
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Inaba Hirofumi
Department of Neurology, Hokkaido University Graduate School of Medicine
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Yashima Moemi
Department of Neurology, Obihiro Kosei Hospital
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Sasaki Hidenao
Department Of Internal Medicine Division Of Neurology St. Marianna University School Of Medicine
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Nakamura Yasushi
Department Of Agricultural Chemistry Faculty Of Agriculture Niigata University
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HOUZEN Hideki
Department of Neurology, Obihiro Kosei Hospital
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Nakamura Yasushi
Department of Ophthalmology, Obihiro Kosei Hospital
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