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Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6

โœ Scribed by Takao Hashimoto; Osamu Sasaki; Kunihiro Yoshida; Yo-ichi Takei; Shu-ichi Ikeda


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
389 KB
Volume
18
Category
Article
ISSN
0885-3185

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โœฆ Synopsis


Abstract

We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gazeโ€evoked nystagmus. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene. The intrafamilial variability of oculomotor symptoms may be ascribed to factors other than CAG repeat expansion size in SCA6. ยฉ 2003 Movement Disorder Society


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