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.

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Authors

Contributions

CCL: examined the patient, reviewed his medical records, searched literature, and wrote the first draft of the manuscript.

SRG: examined the patient, reviewed his medical records, and critically reviewed the manuscript.

DG: examined the patient, reviewed his medical records, and critically reviewed the manuscript.

AA: performed TG6, TG2, and gliadin antibody assays and critically reviewed the manuscript.

PG: examined the patient, performed endoscopy, and critically reviewed the manuscript.

SHK: examined the patient, reviewed his medical records, and critically reviewed the manuscript.

Corresponding author

Correspondence to Sheng-Han Kuo.

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The authors declare that they have no conflict of interest.

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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

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Keywords

  • Spinocerebellar ataxia
  • SCA35
  • Gluten
  • Cerebellum
  • Transglutaminase
  • TGM6