Clinical and Neuroradiological Features of Patients with Spinocerebellar Ataxias from Korean Kindreds

Oh Young Bang, Kyoon Huh, Phil Hyu Lee, Hyon J. Kim

Research output: Contribution to journalArticle

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Abstract

Background: Comparative studies of clinical and magnetic resonance imaging findings in patients with spino-cerebellar 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.

Original languageEnglish
Pages (from-to)1566-1574
Number of pages9
JournalArchives of Neurology
Volume60
Issue number11
DOIs
Publication statusPublished - 2003 Nov 1

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Spinocerebellar Ataxias
Cerebellar Ataxia
Multiple System Atrophy
Magnetic Resonance Imaging
Ataxia
Atrophy
Progressive Myoclonic Epilepsy
Genes
Fourth Ventricle
Mutation
Retinitis Pigmentosa
Dystonia

All Science Journal Classification (ASJC) codes

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

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abstract = "Background: Comparative studies of clinical and magnetic resonance imaging findings in patients with spino-cerebellar 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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Clinical and Neuroradiological Features of Patients with Spinocerebellar Ataxias from Korean Kindreds. / Bang, Oh Young; Huh, Kyoon; Lee, Phil Hyu; Kim, Hyon J.

In: Archives of Neurology, Vol. 60, No. 11, 01.11.2003, p. 1566-1574.

Research output: Contribution to journalArticle

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