Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5

ConclusionWe identified two novel heterozygous variants ofSPTBN2 resulting in severe ataxia which further delineated the correlation between the genotype and phenotype of SCA5, and pathogenesis of variants inSPTBN2 should be further researched.

http://link.springer.com/10.1007/s10072-021-05204-3

Source: Neurological Sciences - April 2, 2021 Category: Neurology Source Type: research