Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A

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2024年1月15日

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Shiroh Miura,
Emina Watanabe,
Kensuke Senzaki,
Shigeyoshi Hiruki,
Sayaka Matsumoto,
Takuya Morikawa,
Yusuke Uchiyama,
Seiji Kurata,
Masayuki Ochi,
Yasumasa Ohyagi,
Hiroki Shibata

摘要

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.