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

Shiroh MiuraEmina WatanabeKensuke SenzakiShigeyoshi HirukiSayaka MatsumotoTakuya MorikawaYusuke UchiyamaSeiji KurataMasayuki OchiYasumasa OhyagiHiroki Shibata

Published in: Human genome variation (2024)

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.

Keyphrases

computed tomography
early onset
positron emission tomography
copy number
gene expression
sleep quality
dna methylation
contrast enhanced
genome wide