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Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation.

Lin, Chih-Chun; Gan, Shi-Rui; Gupta, Deepak; Alaedini, Armin; Green, Peter H; Kuo, Sheng-Han.
Cerebellum; 18(2): 291-294, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30229425
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.
Selo DaSilva