Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

Pomarino, David; Thren, Johanna Ronja; Thren, Anneke; Rostasy, Kevin; Schoenfeldt, Jan

Abstract

This article at hand described a 4-year-old patient who initially presented with the symptoms of toe walking. As part of the diagnostic process, the patient was genetically tested to find the cause of the gait anomaly. The genetic test found a mutation in the KCNC3 gene. The variant c.1268G > A; p.Arg423His was found in a heterozygotic state. This variant is frequently described as a cause for spinocerebellar ataxia type 13 (SCA13) in the literature. Apart from toe walking as the most pronounced symptom, the patient displayed an instable gait with frequent falls and delayed speech development. The genetic test to determine the cause of the gait anomaly successfully diagnosed the patient with a previously undiscovered SCA13 and subsequently enabled the recommendation of personalized further treatment.

Citation

Pomarino, D., Thren, J. R., Thren, A., Rostasy, K., & Schoenfeldt, J. (2022). Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene. Global Medical Genetics, 9(1), 51-53. https://doi.org/10.1055/s-0041-1736483

• Journal Article Type: Article
• Acceptance Date: Aug 31, 2021
• Online Publication Date: Oct 19, 2021
• Publication Date: 2022-03
• Deposit Date: Jan 14, 2022
• Publicly Available Date: Jan 14, 2022
• Journal: Global Medical Genetics
• Electronic ISSN: 2699-9404
• Publisher: Thieme Gruppe
• Peer Reviewed: Peer Reviewed
• Volume: 9
• Issue: 1
• Pages: 51-53
• DOI: https://doi.org/10.1055/s-0041-1736483
• Public URL: https://durham-repository.worktribe.com/output/1217774