Spinocerebellar Ataxia Type 28 in a Chinese Pedigree: A Case Report and Literature Review

Abstract Spinocerebellar ataxia (SCA) is a common neurogenetic disease, which mainly manifests as ataxia of posture, gait and limbs, cerebellar dysarthria, cerebellar and supranuclear eye movement disorders. It is found that SCA is a kind of progressive neurodegenerative disease including many subtypes, which is mainly mapped to two genetic patterns as: autosomal dominant cerebellar ataxia (ADCA) and autosomal recessive cerebellar ataxia (ARCA). Molecular genetic diagnosis functions as a necessity in its clinical diagnosis and treatment. In our previous clinical work, we found a family with ataxia who presented a c.1852A > G missense mutation in the exon region of AFG3L2 gene by whole exome sequencing (WES) and Sanger validation. Spinocerebellar ataxia type 28 (SCA28) was suspected, which was not reported in the previous literature. We here report the case and review the literature.