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

Authors
Bang, OY; Huh, K; Lee, PH; Kim, HJ
Citation
Archives of neurology, 60(11):1566-1574, 2003
Journal Title
Archives of neurology
ISSN
0003-99421538-3687
Abstract
BACKGROUND: 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.
MeSH terms
Age of OnsetBrain/pathology*Brain/radiographyDNA Mutational AnalysisDisease ProgressionHumansKoreaMagnetic Resonance ImagingMalePolymerase Chain ReactionSpinocerebellar Ataxias/genetics*Spinocerebellar Ataxias/pathology*Spinocerebellar Ataxias/radiography*Trinucleotide Repeats
DOI
10.1001/archneur.60.11.1566
PMID
14623729
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Neurology
AJOU Authors
방, 오영허, 균이, 필휴김, 현주
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