Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin).

Overview

Authors: G Diane Shelton¹, Sofie F M Bhatti², Luc Van Ham², Steven G Friedenberg³, Jonah N Cullen³, Ling T Guo¹, Katie M Minor³

ORCID iDs: G Diane Shelton, Steven G Friedenberg, Katie M Minor

Department of Pathology, University of California San Diego, La Jolla, CA, United States
Faculty of Veterinary Medicine, Small Animal Department, Ghent University, Salisburylaan 133, Merelbeke 9820, Belgium
Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55108, United States

Institutions: University of California San Diego (United States); Ghent University (Belgium); University of Minnesota (United States)

Journal: Journal of veterinary internal medicine, volume 40, issue 3, article aalag085

Dates: received 11 September 2025; accepted 10 April 2026; published online 9 May 2026; in print May 2026

Type: Case report · Language: English

License: CC BY

Identifiers: DOI 10.1093/jvimsj/aalag085 · PMID 42105303 · PMCID PMC13156943 · OpenAlex W7160717240

Open access: gold, a free copy (OpenAlex)

Status: data only

Categories: genetics / omics (modality), human (organism), other (organism), other condition (population), clinical / translational (subfield)

Keywords: genetic disease, movement disorder, muscle, myopathy, neuromuscular disease, whole genome sequencing

MeSH: DNA Helicases*, Dog Diseases*, Animals, Dogs, Frameshift Mutation, Gait, Homozygote, Male (* major topic)

Journal subjects: Small Animal Internal Medicine Neurology

Topic: Hereditary Neurological Disorders (Cellular and Molecular Neuroscience, Neuroscience), according to OpenAlex

Citations: not cited yet (Europe PMC); 23 references in the paper

Abstract

Here we describe an 8-year-old intact male Jack Russell Terrier with a 9-month history of slowly progressive gait disturbances that advanced over 2 years to generalized stiffness without ataxia and severe bilateral hyperflexion of all limbs. Gait evaluation showed high lifting of both pelvic limbs resulting in a hopping movement in the rear end; the right pelvic limb was kept lifted, making the dog trot on the 3 other limbs. Both thoracic limbs were lifted higher than normal. Complete blood count and serum biochemistry analysis including creatine kinase activity were normal. Electrophysiological examination showed no abnormalities. Muscle biopsy samples collected at a later stage of the disease showed no abnormalities. A homozygous frameshift variant in SETX (senataxin) was identified and is predicted to truncate about 85% of the protein. The SETX variant adds a new gene variant to the list affecting Jack Russell Terriers with gait abnormalities.

Reproduced under the paper's license (CC BY), from the paper cited above.

Code

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Data

Datasets cited

bioproject:PRJNA615959, at NCBI BioProject; found in the text, “Genetic testing”

Versions

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Version 1, 27 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 7 authors, 6 keywords, 8 MeSH terms, 23 references.

Cite

This paper

Shelton, G. D., Bhatti, S. F. M., Van Ham, L., Friedenberg, S. G., Cullen, J. N., Guo, L. T., & Minor, K. M. (2026). Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin). Journal of veterinary internal medicine, 40(3), aalag085. https://doi.org/10.1093/jvimsj/aalag085

BibTeX

@article{shelton2026progressive, author = {Shelton, G Diane and Bhatti, Sofie F M and Van Ham, Luc and Friedenberg, Steven G and Cullen, Jonah N and Guo, Ling T and Minor, Katie M}, title = {{Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin)}}, journal = {Journal of veterinary internal medicine}, year = {2026}, month = may, volume = {40}, number = {3}, pages = {aalag085}, publisher = {Oxford University Press}, issn = {0891-6640}, doi = {10.1093/jvimsj/aalag085}, url = {https://doi.org/10.1093/jvimsj/aalag085}, pmid = {42105303}, pmcid = {PMC13156943} }

RIS

TY - JOUR AU - Shelton, G Diane AU - Bhatti, Sofie F M AU - Van Ham, Luc AU - Friedenberg, Steven G AU - Cullen, Jonah N AU - Guo, Ling T AU - Minor, Katie M TI - Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin) T2 - Journal of veterinary internal medicine J2 - J Vet Intern Med PY - 2026 DA - 2026/05/01 VL - 40 IS - 3 SP - aalag085 SN - 0891-6640 PB - Oxford University Press DO - 10.1093/jvimsj/aalag085 UR - https://doi.org/10.1093/jvimsj/aalag085 LA - en ER -

CSL-JSON

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