Diagnostic Challenges Posed by Preceding Peripheral Neuropathy in Very Late-onset Spinocerebellar Ataxia Type 3

  • Sugiyama Atsuhiko
    Department of Neurology, Graduate School of Medicine, Chiba University, Japan
  • Sekiguchi Yukari
    Department of Neurology, Graduate School of Medicine, Chiba University, Japan
  • Beppu Minako
    Department of Neurology, Graduate School of Medicine, Chiba University, Japan Division of Clinical Genetics, Chiba University Hospital, Japan
  • Ishige Takayuki
    Division of Laboratory Medicine, Chiba University Hospital, Japan
  • Matsushita Kazuyuki
    Division of Laboratory Medicine, Chiba University Hospital, Japan
  • Kuwabara Satoshi
    Department of Neurology, Graduate School of Medicine, Chiba University, Japan

抄録

<p>Peripheral neuropathy is a common extracerebellar manifestation of spinocerebellar ataxia type 3 (SCA3). However, to date, only a few SCA3 case reports have described the development of neuropathy before the emergence of apparent cerebellar signs. We herein report a case of very late-onset SCA3 in which preceding peripheral neuropathy seemingly concealed cerebellar signs, with seven years lapsing from the onset to the diagnosis. Horizontal gaze-evoked nystagmus and brain magnetic resonance imaging (MRI) findings prompted genetic testing, which confirmed the diagnosis of SCA3. A careful follow-up of neurological findings, such as nystagmus, and brain MRI are imperative for such cases. </p>

収録刊行物

  • Internal Medicine

    Internal Medicine 58 (1), 119-122, 2019-01-01

    一般社団法人 日本内科学会

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