Referenced in: none

Automatically associated channels: Cav2.1

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

Authors: H Harada, A Tamaoka, M Watanabe, K Ishikawa, S Shoji

Journal, date & volume: J. Neurol. Sci., 1998 Oct 8 , 160, 161-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9849799

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.