A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11

Cerebellum. 2023 Oct 17. doi: 10.1007/s12311-023-01616-3. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 11 (SCA11) is a rare disease and the tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only six SCA11 families have been reported. Here, we reported a Chinese SCA11 pedigree with cerebellar ataxia. Both patients in the family demonstrated typical clinical features of cerebellar ataxia and cerebellar atrophy on brain MRI. A novel heterozygous duplication mutation (c.1211_1217dupAGGAGAA) of the TTBK2 gene was identified in the proband using whole-exome sequencing (WES), which resulted in a frameshift mutation and formed a premature stop codon (p. N406Kfs*47). The mutation was detected in the proband's affected brother, and his unaffected mother, who with a lower percentage of the mutation and considered as an asymptomatic mutation carrier. Our study delineated the genotypic spectrum of SCA11.PMID:37848700 | DOI:10.1007/s12311-023-01616-3

Source: Cerebellum - October 17, 2023 Category: Neuroscience Authors: Yin-Qian Lu Jian-Min Chen Ya-Li Huang Zhang-Yu Zou Source Type: research