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Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6)
H Harada1, A Tamaoka, M Watanabe
1Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
Journal of the Neurological Sciences
|December 16, 1998
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.