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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

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


Authors

David Pomarino

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Johanna Thren johanna.r.thren@durham.ac.uk
PGR Student Doctor of Philosophy

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Johanna Thren johanna.r.thren@durham.ac.uk
PGR Student Doctor of Philosophy

Kevin Rostasy

Jan Schoenfeldt



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
Publisher Thieme Gruppe
Peer Reviewed Peer Reviewed
Volume 9
Issue 1
Pages 51-53
DOI https://doi.org/10.1055/s-0041-1736483

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