TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study

Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family

“…4 There is some debate whether TGM6 variants are causative for ATX-TGM6 (SCA35), as benign or low penetrant variants might be misclassified as pathogenic and therefore, might also occur in patients with various neurologic diseases or normal controls. 5,6 TGM6 is neuronally expressed and catalyzes various posttranslational modifications in proteins and peptides, 7 but its exact role in ATX-TGM6 (SCA35) pathogenesis is still elusive. Antibodies against TGM6 have been discussed as a biomarker for gluten ataxia, 8 so a converging mechanism for gluten ataxia and ATX-TGM6 (SCA35) might be responsible for the evolving phenotype.…”