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

This article at hand described a 4-year-old child 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 &g...

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Autores principales: Pomarino, David, Thren, Johanna Ronja, Thren, Anneke, Rostasy, Kevin, Schoenfeldt, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2021
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837416/
https://www.ncbi.nlm.nih.gov/pubmed/35169784
http://dx.doi.org/10.1055/s-0041-1736483
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author Pomarino, David
Thren, Johanna Ronja
Thren, Anneke
Rostasy, Kevin
Schoenfeldt, Jan
author_facet Pomarino, David
Thren, Johanna Ronja
Thren, Anneke
Rostasy, Kevin
Schoenfeldt, Jan
author_sort Pomarino, David
collection PubMed
description This article at hand described a 4-year-old child 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.Arg423. His 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.
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spelling pubmed-88374162022-02-14 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 Glob Med Genet This article at hand described a 4-year-old child 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.Arg423. His 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. Georg Thieme Verlag KG 2021-10-19 /pmc/articles/PMC8837416/ /pubmed/35169784 http://dx.doi.org/10.1055/s-0041-1736483 Text en The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ) https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle 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
title Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene
title_full Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene
title_fullStr Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene
title_full_unstemmed Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene
title_short Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene
title_sort toe walking as the initial symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the kcnc3 gene
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837416/
https://www.ncbi.nlm.nih.gov/pubmed/35169784
http://dx.doi.org/10.1055/s-0041-1736483
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