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 ◽

10.1055/s-0041-1736483 ◽

2021 ◽

Author(s):

David Pomarino ◽

Johanna Ronja Thren ◽

Anneke Thren ◽

Kevin Rostasy ◽

Jan Schoenfeldt

Keyword(s):

Spinocerebellar Ataxia ◽

Genetic Test ◽

Speech Development ◽

Spinocerebellar Ataxia Type ◽

Diagnostic Process ◽

Initial Symptom ◽

Toe Walking

AbstractThis 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.

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Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

Asian Biomedicine ◽

10.5372/1905-7415.0501.006 ◽

2011 ◽

Vol 5 (1) ◽

pp. 57-62

Author(s):

Sirui Yang ◽

Weihong Xu ◽

Shibo Li ◽

Shicheng Liu ◽

Honghua Lu ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Genetic Diagnosis ◽

Cerebellar Atrophy ◽

Spinocerebellar Ataxia Type ◽

Diagnostic Process ◽

Chinese Family ◽

Hereditary Ataxia ◽

The Family ◽

Clinical Records ◽

Tentative Diagnosis

Abstract Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy. Objectives: To investigate evidence-based diagnosis of hereditary ataxia by retrospective analysis of the diagnostic process in one Chinese family. Methods: Clinical records of 15 ataxia patients from one Chinese family with 46 family members were retrospectively reviewed and a tentative diagnosis was made based on clinical manifestations, signs and symptoms, mode of inheritance, and progression. Since hereditary ataxia is a group of heterogeneous diseases having various subtypes and overlapping symptoms, we adopted a stepwise evaluation to achieve a tentative diagnosis. To confirm the diagnosis, we performed polymerase chain reaction (PCR) specific for the suspected causative gene of spinocerebellar ataxia (SCA) subtype 3 (SCA3). Results: Through analysis of hereditary and clinical characteristics of family histories of the patients, we suspected that the family might suffer from SCA, especially, SCA3. The PCR assay for SCA3 showed that, five of the ten samples analyzed had a CAG trinucleotide expansion of the SCA3 gene, and four of the five members developed ataxia. The remaining one, a seven-year-old girl, showed no symptoms or signs except for uvula deviation. No clinical symptoms were found in five other members with negative PCR results. Thus, based on both clinical findings and laboratory results, we further confirmed that the family suffered from SCA3. Conclusion: Hereditary ataxias are disorders sharing overlapping symptoms. Comprehensive analysis of medical and family records together with genetic diagnosis improves diagnostic efficiency of hereditary ataxia and aides in family counseling.

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