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

ABSTRACT: 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.

SUBMITTER: Miura S

PROVIDER: S-EPMC10788331 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature

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

Miura Shiroh S Watanabe Emina E Senzaki Kensuke K Hiruki Shigeyoshi S Matsumoto Sayaka S Morikawa Takuya T Uchiyama Yusuke Y Kurata Seiji S Ochi Masayuki M Ohyagi Yasumasa Y Shibata Hiroki H

Human genome variation 20240115 1

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 pe ...[more]

PMID: 38221525

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