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Case Reports
. 1998 Oct 8;160(2):161-3.
doi: 10.1016/s0022-510x(98)00250-0.

Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6)

H Harada  1 , A Tamaoka, M Watanabe, K Ishikawa, S Shoji
Affiliations
Case Reports

Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6)

H Harada et al. J Neurol Sci. .

Abstract

We report two siblings with spinocerebellar ataxia type 6 (SCA 6), both showing downbeat nystagmus (DBN) as a predominant clinical feature. Familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA-2) and SCA 6 are allelic disorders, and interestingly, the occasional presence of DBN in EA-2 was reported. Our observations suggest that common molecular mechanisms might underlie DBN in FHM, EA-2 and SCA 6. Then, these disorders should be kept in mind in diagnosing patients with DBN.

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