Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop codon. An immune-mediated ataxia previously found to be associated with autoantibody reactivity to TG6 may share a similar pathomechanism to SCA35, suggesting a converging role for TG6 in cerebellar function.
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Lin, C., Gan, S., Gupta, D. et al. Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation. Cerebellum 18, 291–294 (2019). https://doi.org/10.1007/s12311-018-0978-6
- Spinocerebellar ataxia