Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia

Ji Young Yun, Woong Woo Lee, Hee Jin Kim, Ji Seon Kim, Jong Min Kim, Han Joon Kim, Sung Yeun Kim, Ji Yeon Kim, Sung Sup Park, Yu Kyeong Kim, Sang Eun Kim, Beom S. Jeon

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

We examined the relative significance of SCA2, SCA3 and SCA17 in Koreans patients with parkinsonism and ataxia. We recruited patients with either parkinsonism (n = 524; PD = 386 and MSA = 138) or ataxia (n = 44) as their main clinical feature for two years. These patients were screened for SCA2, SCA3 and SCA17. Six cases carried SCA2; one, SCA3; and eight, SCA17. In SCA2 patients, one patient exhibited MSA-P phenotype, and the other five exhibited ataxia. The single patient with SCA3 showed ataxia. In SCA17 patients, one patient presented ataxia, the other seven patients showed parkinsonism (three PD and four MSA-P). Dopamine transporter (DAT) imaging was performed in a subset of ataxic or parkinsonian SCA2 or SCA17, all of whom showed decreased DAT binding. In Korean population, the mutation frequencies of SCA2 and SCA17 were similar. SCA2 was a more significant cause of ataxia, whereas SCA17 was a more significant cause of parkinsonism. Contribution of SCA3 to parkinsonism was insignificant.

Original languageEnglish
Pages (from-to)338-342
Number of pages5
JournalParkinsonism and Related Disorders
Volume17
Issue number5
DOIs
StatePublished - Jun 2011

Keywords

  • Ataxia
  • Parkinsonism
  • Spinocerebellar ataxia (SCA)
  • Trinucleotide repeat disease

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