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

ABSTRACT: 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.

SUBMITTER: Lin CC

PROVIDER: S-EPMC6544358 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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

Lin Chih-Chun CC Gan Shi-Rui SR Gupta Deepak D Alaedini Armin A Green Peter H PH Kuo Sheng-Han SH

Cerebellum (London, England) 20190401 2

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 fu ...[more]

PMID: 30229425

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