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Updated: Feb 5, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation
Chih-Chun Lin1, Shi-Rui Gan2, Deepak Gupta3
1Methodist Neurological Institute, Houston, TX, USA.
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.
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