title: Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.
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.
authors.affiliation: Department of Neurology and Movement Disorder Center, Seoul National University Hospital, Seoul, Republic of Korea.
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Yun
authors.forename: Woong-Woo
authors.initials: WW
authors.lastname: Lee
authors.forename: Hee Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Ji Seon
authors.initials: JS
authors.lastname: Kim
authors.forename: Jong-Min
authors.initials: JM
authors.lastname: Kim
authors.forename: Han-Joon
authors.initials: HJ
authors.lastname: Kim
authors.forename: Sung Yeun
authors.initials: SY
authors.lastname: Kim
authors.forename: Ji Yeon
authors.initials: JY
authors.lastname: Kim
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Yu Kyeong
authors.initials: YK
authors.lastname: Kim
authors.forename: Sang Eun
authors.initials: SE
authors.lastname: Kim
authors.forename: Beom S
authors.initials: BS
authors.lastname: Jeon
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D001259:Ataxia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000067699:Ataxin-3; D000067528:Ataxins; D005260:Female; D005787:Gene Frequency; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D017827:Machado-Joseph Disease / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015609:Organotechnetium Compounds / Q000493:pharmacokinetics; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011485:Protein Binding / Q000187:drug effects; D019275:Radiopharmaceuticals / Q000493:pharmacokinetics; D012097:Repressor Proteins / Q000235:genetics*; D056910:Republic of Korea / Q000453:epidemiology; D035181:TATA-Box Binding Protein / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods; D014326:Tropanes / Q000493:pharmacokinetics
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D015609:Organotechnetium Compounds; D019275:Radiopharmaceuticals; D012097:Repressor Proteins; D035181:TATA-Box Binding Protein; C509817:TBP protein, human; D014326:Tropanes; C104196:technetium Tc 99m TRODAT-1; C092341:ATXN3 protein, human; D000067699:Ataxin-3