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Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.

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dc.contributor.authorBang, OY-
dc.contributor.authorHuh, K-
dc.contributor.authorLee, PH-
dc.contributor.authorKim, HJ-
dc.date.accessioned2011-07-26T06:56:13Z-
dc.date.available2011-07-26T06:56:13Z-
dc.date.issued2003-
dc.identifier.issn0003-9942-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/3604-
dc.description.abstractBACKGROUND: Comparative studies of clinical and magnetic resonance imaging findings in patients with spinocerebellar ataxias (SCAs) have been seldom reported.
OBJECTIVE: To investigate clinical, genetic, and neuroradiological characteristics of SCAs in Korean kindreds.
SETTING: University hospital.
PATIENTS AND METHODS: Molecular analysis of SCA types 1, 2, 3, 6, and 7 and dentatorubral pallidoluysian atrophy and magnetic resonance imaging were performed in 67 patients with ataxia.
RESULTS: The overall prevalence of 6 types of SCAs was 54% (36 of 67 patients), irrespective of patients' family histories. The most frequent type was SCA7 (11 patients, 16%), followed by SCA3 and SCA6 (10 patients, 15% for both). Certain clinical features suggested specific gene defects, although overlap among the 6 SCA subtypes was broad: visual disturbance was noted in patients with SCA3 and SCA6, dystonia in 1 patient with SCA6, and sporadic ataxia without pigmentary retinopathy in 1 patient with SCA7. Compared with the control subjects, patients with SCAs and multisystem atrophy had a significant enlargement of the fourth ventricle and atrophy of the cerebellum (P<.01). An inverse correlation between the pontine area and the degree of cerebellar atrophy was found in patients with multisystem atrophy (r = -0.73) but not in patients with SCAs. Magnetic resonance imaging revealed significant differences in pattern of morphological alterations among patients with different SCA gene mutations. A similar finding was observed in SCA patients with atypical phenotype.
CONCLUSION: The clinical and neuroradiological characteristics of Korean patients with SCAs might be helpful in detecting underlying gene mutations.
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dc.formatapplication/pdf-
dc.language.isoen-
dc.subject.MESHAge of Onset-
dc.subject.MESHBrain-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHDisease Progression-
dc.subject.MESHHumans-
dc.subject.MESHKorea-
dc.subject.MESHMagnetic Resonance Imaging-
dc.subject.MESHMale-
dc.subject.MESHPolymerase Chain Reaction-
dc.subject.MESHSpinocerebellar Ataxias-
dc.subject.MESHTrinucleotide Repeats-
dc.titleClinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.-
dc.typeArticle-
dc.identifier.pmid14623729-
dc.identifier.urlhttp://archneur.ama-assn.org/cgi/pmidlookup?view=long&pmid=14623729-
dc.contributor.affiliatedAuthor방, 오영-
dc.contributor.affiliatedAuthor허, 균-
dc.contributor.affiliatedAuthor이, 필휴-
dc.contributor.affiliatedAuthor김, 현주-
dc.type.localJournal Papers-
dc.identifier.doi10.1001/archneur.60.11.1566-
dc.citation.titleArchives of neurology-
dc.citation.volume60-
dc.citation.number11-
dc.citation.date2003-
dc.citation.startPage1566-
dc.citation.endPage1574-
dc.identifier.bibliographicCitationArchives of neurology, 60(11). : 1566-1574, 2003-
dc.identifier.eissn1538-3687-
dc.relation.journalidJ000039942-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Neurology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Humanities & Social Medicine
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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