Harada H, Tamaoka A, Watanabe M, Ishikawa K, Shoji S
Department of Neurology, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
J Neurol Sci. 1998 Oct 8;160(2):161-3. doi: 10.1016/s0022-510x(98)00250-0.
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.
我们报告了两名患有6型脊髓小脑共济失调（SCA 6）的兄弟姐妹，两人均以向下性眼球震颤（DBN）作为主要临床特征。家族性偏瘫性偏头痛（FHM）、2型发作性共济失调（EA - 2）和SCA 6是等位基因疾病，有趣的是，曾有报道称EA - 2中偶尔会出现DBN。我们的观察结果表明，FHM、EA - 2和SCA 6中DBN可能存在共同的分子机制。因此，在诊断患有DBN的患者时应考虑到这些疾病。
