Article

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

2023-03-13

Abstract excerpt

Spinocerebellar ataxia type 11 (SCA11) is a rare disease and tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only seven 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 duplicated mutation (c.1211_12...

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Identifiers and source

Literature Corpus work: 06c44e98-ebcd-54e9-87fc-3c65d1f11895
DOI: 10.21203/rs.3.rs-2618458/v1

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