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. 2004;49(5):256-64.
doi: 10.1007/s10038-004-0142-7.

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

Hiroki Takahashi  1 , Kinya Ishikawa, Takeshi Tsutsumi, Hiroto Fujigasaki, Akihiro Kawata, Ryoichi Okiyama, Tsuneo Fujita, Kazuo Yoshizawa, Shigeki Yamaguchi, Hitoshi Tomiyasu, Fumihito Yoshii, Kazuko Mitani, Natsue Shimizu, Mineo Yamazaki, Tomoyuki Miyamoto, Tomoyuki Orimo, Shin'ichi Shoji, Ken Kitamura, Hidehiro Mizusawa
Affiliations

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

Hiroki Takahashi et al. J Hum Genet. 2004.

Abstract

In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140 patients. We observed an inverse correlation between the age of onset and the length of the expanded allele, and also between the age of onset and the sum of CAG repeats in the normal and the expanded alleles. The ages of onset of four homozygous patients correlated better with the sum of CAG repeats in both alleles rather than with the expanded allele calculated from heterozygous SCA6 subjects. Clinically, unsteadiness of gait was the main initial symptom, followed by vertigo and oscillopsia, and cerebellar signs were detected in nearly 100% of the patients. In contrast, extracerebellar signs were relatively mild and infrequent. The results of neuro-otological examination performed in 22 patients suggested the purely cerebellar abnormalities of ocular movements in nature. There was a close relationship between downbeat positioning nystagmus (DPN) and positioning vertigo, which became more common in the later stage. We conclude that total number of CAG repeat-units in both alleles is a good parameter for assessment of age of onset in SCA6 including homozygous patients. In addition, clinical and neuro-otological examinations suggested that SCA6 is a disease with predominantly cerebellar dysfunction.

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