Jen J C, Yue Q, Karrim J, Nelson S F, Baloh R W
Department of Neurology, UCLA School of Medicine, Los Angeles, California, USA.
J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):565-8. doi: 10.1136/jnnp.65.4.565.
The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported--namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.
在三个家系中发现了SCA6突变，即钙通道基因CACNA1A中的CAG重复序列小片段扩增。排除了基因CACNA1A其他部位的点突变，并报告了SCA6的新临床特征，即中心性位置性眼球震颤和对乙酰唑胺有反应的发作性共济失调。发作性共济失调2型、家族性偏瘫性偏头痛和SCA6这三种等位基因疾病具有重叠的临床特征。
