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

Arch Neurol. 2003;60:1566-1574.

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.

From the Departments of Neurology (Drs Bang, Huh, and Lee) and Medical Genetics (Dr Kim), School of Medicine, Ajou University, Suwon, South Korea.