Spinocerebellar Ataxia Type 7: Report of a New Italian Family
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概要
- 論文の詳細を見る
Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. We herein describe a family from southern Italy whose proband was a 49-year-old man presenting with ataxia with progressive gait disturbances, clumsiness and visual impairment. A molecular analysis identified 38 cytosine-adenine-guanine (CAG) repeat expansions within the SCA7 gene. Our study confirms the marked anticipation previously observed in SCA7 and extends the small number of patients studied thus far. In this family, the disease is most likely caused by a de novo expansion of a premutated intermediate allele carried by one parent.
- 社団法人 日本内科学会の論文
著者
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Quattrone Aldo
Institute Of Neurological Sciences National Research Council
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Annesi Grazia
Institute Of Neurological Sciences National Research Council
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TARANTINO Patrizia
Institute of Neurological Sciences, National Research Council
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Italiano Domenico
IRCCS Centro Neurolesi "Bonino Pulejo", Italy
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Valeria De
Institute of Neurological Sciences, National Research Council, Italy
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Salvatore Calabrò
IRCCS Centro Neurolesi "Bonino Pulejo", Italy
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Bramanti Placido
IRCCS Centro Neurolesi "Bonino Pulejo", Italy
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Annesi Grazia
Institute of Neurological Sciences, National Research Council, Italy
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Salvatore Calabrò
IRCCS Centro Neurolesi "Bonino Pulejo", Italy
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