Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications

Authors

  • Din-E Shan MD, PhD,

    1. The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China
    2. Department of Neurology, National Yang-Ming University, Taipei, Taiwan, Republic of China
    Search for more papers by this author
  • Ren-Shyan Liu MD,

    1. National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China
    Search for more papers by this author
  • Chen-Ming Sun MD,

    1. National PET/Cyclotron Center, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China
    Search for more papers by this author
  • Shwn-Jen Lee PhD, PT,

    1. Department of Physical Therapy, National Yang-Ming University, Taipei, Taiwan, Republic of China
    Search for more papers by this author
  • Kwong-Kum Liao MD,

    1. The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China
    2. Department of Neurology, National Yang-Ming University, Taipei, Taiwan, Republic of China
    Search for more papers by this author
  • Bing-Wen Soong MD, PhD

    Corresponding author
    1. The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China
    2. Department of Neurology, National Yang-Ming University, Taipei, Taiwan, Republic of China
    • The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, 112, Republic of China
    Search for more papers by this author

Abstract

Among 242 patients with apparently sporadic Parkinson's disease, a 70-year-old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late-onset, levodopa-responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society

Ancillary