Background: Some paroxysmal movement disorders remain without an identified genetic cause. Objectives: The aim was to identify the causal genetic variant for a paroxysmal dystonia–ataxia syndrome in Weimaraner dogs. Methods: Clinical and diagnostic investigations were performed. Whole genome sequencing of one affected dog was used to identify private homozygous variants against 921 control genomes. Results: Four Weimaraners were presented for episodes of abnormal gait. Results of examinations and diagnostic investigations were unremarkable. Whole genome sequencing revealed a private frameshift variant in the TNR (tenascin-R) gene in an affected dog, XM_038542431.1:c.831dupC, which is predicted to truncate more than 75% of the open read frame. Genotypes in a cohort of 4 affected and 70 unaffected Weimaraners showed perfect association with the disease phenotype. Conclusions: We report the association of a TNR variant with a paroxysmal dystonia–ataxia syndrome in Weimaraners. It might be relevant to include sequencing of this gene in diagnosing humans with unexplained paroxysmal movement disorders. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
CITATION STYLE
Christen, M., Gutierrez-Quintana, R., James, M., Faller, K. M. E., Lowrie, M., Rusbridge, C., … Leeb, T. (2023). A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder. Movement Disorders, 38(6), 1094–1099. https://doi.org/10.1002/mds.29391
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