Volume 7 ; Issue 1 ; in Month : Jan-June (2026) Article No : 115
Chamraj S, Srinivasan S.

Abstract

Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders involving the cerebellum or its connections. 48 subtypes of SCAs are described till date. To the best of our literature knowledge SCA42 masquerading as SCA12 in clinical presentation has never been reported. We reported a novel case of SCA42 masquerade as SCA12 in clinical presentation with predominant hand tremors followed by ataxic gait. A 65-year-old male patient presented with history of predominant hand tremors since past 5 years followed by ataxic gait. He had a family history of ataxia (mother, mother brother, and sister). Vermian atrophy, bilateral superior cerebellar peduncle hyperintensity, and mild brainstem atrophy were detected in MRI. The whole exome sequencing test of patient identified the heterozygous missense variant “c.6764A>Glp.Gln2255Arg” detected in the CACNA1G gene on chromosomal position chr17:50626381:A>G that can leads to a change in amino acid from Glutamine to Arginine at codon 2255. The whole exome sequencing of patient’s mother’s sister’s son identified the autosomal dominant heterozygous triple nucleotide “CAG” repeat number of approximately 54 ± 4 in the PPP2R2B gene that can leads to pathogenic SCA12 expression. These findings emphasize the fact that SCA42 could masquerade as SCA12 in clinical presentation could be due to pathogenic SCA12 expression in the same family member. In conclusion, we reported the first novel case from Indian subcontinent that the heterozygous missense variant “c.6764A>Glp.Gln2255Arg” detected in the CACNA1G gene on chromosomal position chr17:50626381:A>G in 65-year-old male patient could masquerade as SCA12 in clinical presentation with clinical features of predominant hand tremors followed by ataxic gait.

Full Text Attachment

Views : 1      Downloads : 2

RSS