Autosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA. Cerebellar atrophy was not evident, but single photon emission computed tomography showed cerebellar hypoperfusion. We identified a novel nonsynonymous variant in CACNA1A, NM_001127222.2:c.1805T>G (p.Leu602Arg), which is predicted to be functionally deleterious; therefore, this variant is likely responsible for EA2 in this pedigree.

中文翻译：

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CACNA1A 中存在新型错义变异 (Leu602Arg) 的阵发性共济失调 2 型

2 型常染色体显性发作性共济失调 (EA2) 是由CACNA1A变异引起的。我们检查了一名患有 EA 症状的 20 岁男性，该男性来自一个患有遗传性 EA 的日本家庭。小脑萎缩不明显，但单光子发射计算机断层扫描显示小脑灌注不足。我们在CACNA1A中发现了一个新的非同义变体，NM_001127222.2:c.1805T>G (p.Leu602Arg)，预计该变体在功能上是有害的；因此，这个变体很可能是这个谱系中的 EA2 的原因。