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The Cerebellum

, Volume 18, Issue 2, pp 291–294 | Cite as

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

  • Chih-Chun Lin
  • Shi-Rui Gan
  • Deepak Gupta
  • Armin Alaedini
  • Peter H Green
  • Sheng-Han KuoEmail author
Short Report
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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.

Keywords

Spinocerebellar ataxia SCA35 Gluten Cerebellum Transglutaminase TGM6 

Notes

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.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Informed Consent

Informed consent for videotaping and publishing the video for academic purposes was obtained from the subject reported in this article.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Chih-Chun Lin
    • 1
  • Shi-Rui Gan
    • 2
  • Deepak Gupta
    • 3
  • Armin Alaedini
    • 4
    • 5
  • Peter H Green
    • 4
    • 5
  • Sheng-Han Kuo
    • 3
    Email author
  1. 1.Methodist Neurological InstituteHoustonUSA
  2. 2.Department of Neurology and Institute of NeurologyThe First Affiliated Hospital of Fujian Medical UniversityFujianChina
  3. 3.Department of NeurologyColumbia University Medical CenterNew YorkUSA
  4. 4.Department of MedicineColumbia University Medical CenterNew YorkUSA
  5. 5.Celiac Disease Center, College of Physicians and SurgeonsColumbia UniversityNew YorkUSA

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