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The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6
  1. Jong-Min Kim1,
  2. Jee-Young Lee1,
  3. Hee Jin Kim1,
  4. Ji Seon Kim1,
  5. Yu Kyeong Kim2,
  6. Sung Sup Park3,
  7. Sang Eun Kim2,
  8. Beom S Jeon1
  1. 1Department of Neurology, Seoul National University College of Medicine, MRC and BK-21, Clinical Research Institute, Seoul National University Hospital and Bundang Hospital, Seoul, South Korea
  2. 2Department of Nuclear Medicine, Seoul National University College of Medicine, MRC and BK-21, Clinical Research Institute, Seoul National University Hospital and Bundang Hospital, Seoul, South Korea
  3. 3Department of Laboratory Medicine, Seoul National University College of Medicine, MRC and BK-21, Clinical Research Institute, Seoul National University Hospital and Bundang Hospital, Seoul, South Korea
  1. Correspondence to Professor B S Jeon, Seoul National University Hospital, Department of Neurology, Chongno-Ku Yunkeun-Dong 28, Seoul 110-744, South Korea; brain{at}snu.ac.kr

Abstract

Spinocerebellar ataxia type 6 (SCA6) manifests a wide spectrum of non-cerebellar system involvements. The objective of this study was to examine the presence of nigrostriatal dopaminergic system derangement in SCA6. Eight patients with SCA6 who underwent a regular follow-up for at least 2 years participated in this study. A detailed neurological examination was performed and striatal dopamine transporter (DAT) was evaluated using [99mTc]–TRODAT-1 SPECT. The main clinical feature of SCA6 was cerebellar ataxia with impaired eye movements. However, a wide spectrum of non-cerebellar system involvements, such as autonomic dysfunction, and pyramidal and extrapyramidal signs, was also observed. Two patients had bradykinesia. l-dopa was tried in one patient without benefit. Of the two patients with bradykinesia, DAT density was reduced to the Parkinson's disease (PD) range with a rostrocaudal gradient typical of PD in one patient (CAG repeats 13/22) and was mildly decreased in the other patient (12/25). Of the four patients without extrapyramidal signs, three (12/22, 11/25, 17/22) showed mild to severe reduction of DAT density and one (13/22) had a normal density. This study shows that SCA6 has a varying degree of nigrostriatal dopaminergic derangement. Two patients manifested mild bradykinesia, emphasising the need to screen for SCA6, even in patients with progressive ataxia and parkinsonism. Further histopathological studies would be helpful to determine the nigrostriatal dopaminergic damage in SCA6.

  • Cerebellar ataxia
  • cerebellar degeneration
  • parkinson's disease

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Footnotes

  • Funding Donations were received from the Korean Health 21 R&D Project, Ministry of Health and Welfare, Republic of Korea (AO30001), Seoul National University Bundang Hospital (02-2006-014) and the Shinyang Cultural Foundation in Korea.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was conducted with the approval of the institutional review board of the Seoul National University Hospital at Chongno-Ku Yeonkeon-Dong 28, Seoul, South Korea.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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