Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2011-6-6
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1873-5126
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
338-42
pubmed:meshHeading
pubmed-meshheading:21334959-Aged, pubmed-meshheading:21334959-Asian Continental Ancestry Group, pubmed-meshheading:21334959-Ataxia, pubmed-meshheading:21334959-Female, pubmed-meshheading:21334959-Gene Frequency, pubmed-meshheading:21334959-Genome-Wide Association Study, pubmed-meshheading:21334959-Genotype, pubmed-meshheading:21334959-Humans, pubmed-meshheading:21334959-Machado-Joseph Disease, pubmed-meshheading:21334959-Male, pubmed-meshheading:21334959-Middle Aged, pubmed-meshheading:21334959-Mutation, pubmed-meshheading:21334959-Nerve Tissue Proteins, pubmed-meshheading:21334959-Nuclear Proteins, pubmed-meshheading:21334959-Organotechnetium Compounds, pubmed-meshheading:21334959-Parkinsonian Disorders, pubmed-meshheading:21334959-Phenotype, pubmed-meshheading:21334959-Protein Binding, pubmed-meshheading:21334959-Radiopharmaceuticals, pubmed-meshheading:21334959-Repressor Proteins, pubmed-meshheading:21334959-Republic of Korea, pubmed-meshheading:21334959-TATA-Box Binding Protein, pubmed-meshheading:21334959-Tomography, Emission-Computed, Single-Photon, pubmed-meshheading:21334959-Tropanes
pubmed:year
2011
pubmed:articleTitle
Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.
pubmed:affiliation
Department of Neurology and Movement Disorder Center, Seoul National University Hospital, Seoul, Republic of Korea.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't