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

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A Correction to this article was published on 07 August 2020

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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.

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Authors and Affiliations

  1. Methodist Neurological Institute, Houston, TX, USA

    Chih-Chun Lin

  2. Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fujian, China

    Shi-Rui Gan

  3. Department of Neurology, Columbia University Medical Center, 650 West 168th Street, Room 305, New York, NY, 10032, USA

    Deepak Gupta & Sheng-Han Kuo

  4. Department of Medicine, Columbia University Medical Center, New York, NY, USA

    Armin Alaedini & Peter H Green

  5. Celiac Disease Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA

    Armin Alaedini & Peter H Green

Authors
  1. Chih-Chun Lin
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  2. Shi-Rui Gan
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  3. Deepak Gupta
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  4. Armin Alaedini
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  5. Peter H Green
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  6. Sheng-Han Kuo
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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, CC., Gan, SR., 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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  • DOI: https://doi.org/10.1007/s12311-018-0978-6

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