抽象的

Toe walking as the initial symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 Gene

Johanna Ronja Thren*,David Pomarino , Anneke Thren, Kevin Rostasy

The article at hand describes a four-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 personalised further treatment.