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

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

doi:10.1038/s41439-023-00261-w

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

Hum Genome Var. 2024 Jan 15;11(1):3. doi: 10.1038/s41439-023-00261-w.

Affiliations

¹ Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan. shiroh46@m.ehime-u.ac.jp.
² Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka, Japan.
³ Department of Neurology and Geriatric Medicine, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime, Japan.
⁴ Department of Radiology, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, Japan.

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.