Three Spinocerebellar Ataxia Type 2 Siblings with Ataxia, Parkinsonism, and Motor Neuronopathy
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概要
- 論文の詳細を見る
Spinocerebellar ataxia type 2 (SCA2) represents a family of dominant neurodegenerative disorders that results from CAG expansion repeat mutations. The phenotype consists of some common features, most notably progressive ataxia. We describe three siblings with SCA2, manifesting parkinsonism and ataxia in the first sibling, juvenile parkinsonism in the second and motor neuronopathy in the third. Genetic examination revealed expansion to 42, 43, and 42 CAG repeats. There was no relationship between the number of repeats and phenotype. The SCA2 gene should be studied in families with heterogeneous neurodegenerative disorders, including motor neuron disease.
著者
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Nomoto Masahiro
Department Of Clinical Pharmacology And Therapeutics Ehime University Graduate School Of Medicine
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Nishikawa Noriko
Department Of Medicine Azumi General Hospital
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Takashima Hiroshi
Department Of Chemistry And Biochemistry Graduate School Of Engineering Kyushu University
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Nagai Masahiro
Department Of Biodesign Division Of Biosystems Institute Of Biomaterials And Bioengineering Tokyo Me
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Tsujii Tomoaki
Department of Neurology and Clinical Pharmacology, Ehime University Graduate School of Medicine, Japan
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Tsujii Tomoaki
Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
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Tanabe Nachi
Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
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Nishikawa Noriko
Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
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Takashima Hiroshi
Department of Neurology and Geriatric Medicine, Kagoshima University Graduate School of Medicine, Japan
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Nomoto Masahiro
Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
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