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BMJ Case Reports 2011; doi:10.1136/bcr.01.2011.3685
  • Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology

  1. Shigeo Murayama1
  1. 1Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, The Brain Bank for Aging Research, Tokyo, Japan
  2. 2Aoyama Clinic, Gunma, Japan
  3. 3Tokyo Medical and Dental University, Tokyo, Japan
  4. 4National Center Hospital of Neurology and Psychiatry, Tokyo, Japan
  5. 5National Tokyo Hospital, Tokyo, Japan
  6. 6Mihara Memorial Hospital, Gunma, Japan
  1. Correspondence to Professor Masaki Takao, mtakao{at}tmig.or.jp

Summary

Clinical phenotype of individuals with spinocerebellar ataxia 2 (SCA2) is characterised by cerebellar ataxia and cognitive impairment. Although L-dopa-responsive Parkinsonism is considered as a rare clinical presentation in SCA2, it has been brought to the attention of many neurologists in several studies. The authors report an autopsy case of SCA2 with Parkinsonism from a Japanese family using archival materials of our Brain Bank to describe unique neuropathologic findings. The individual clinically showed Parkinsonism as a predominant phenotype instead of cerebellar ataxia. Besides the classic SCA2 neuropathologic alterations, Lewy bodies and Lewy neurites were present in the brainstem nuclei. Genetic analysis revealed shorter abnormal expansion of CAG repeats (less than 39). In contrast, the authors could not find α-synuclein pathology in two SCA2 cases without Parkinsonism. The present case will provide a neuropathologic evidence of correlation between α-synucleinopathy and Parkinsonism of SCA2 as well as shed light on understanding the pathomechanism of Parkinsonism in SCA2.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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