Three Spinocerebellar Ataxia Type 2 Siblings with Ataxia, Parkinsonism, and Motor Neuronopathy

DOI Web Site 参考文献14件
  • Nishikawa Noriko
    Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
  • Nagai Masahiro
    Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
  • Tsujii Tomoaki
    Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
  • Tanabe Nachi
    Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan
  • Takashima Hiroshi
    Department of Neurology and Geriatric Medicine, Kagoshima University Graduate School of Medicine, Japan
  • Nomoto Masahiro
    Department of Neurology and Clinical Pharmacology, Ehime University Hospital, Japan

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抄録

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.<br>

収録刊行物

  • Internal Medicine

    Internal Medicine 50 (13), 1429-1432, 2011

    一般社団法人 日本内科学会

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