Spinocerebellar Ataxia 6 – a Case Report

Česká verzia

Authors: K. Krakorová ¹; J. Polívka ¹; F. Šlauf ²
Authors place of work: LF UK a FN Plzeň Neurologická klinika ¹; LF UK a FN Plzeň Klinika zobrazovacích metod ²
Published in the journal: Cesk Slov Neurol N 2015; 78/111(4): 482-485
Category: Case Report

Summary

Spinocerebellar ataxia 6 (SCA6) is a rather rare neurodegenerative disorder, one of autosomal dominant spinocerebelar ataxias. It is caused by expansion of unstable CAG triplet repeats in the gene responsible for the voltage-dependent calcium channel mapped to the chromosome 19. The disease is characterized by progressive paleo- and neocerebellar symptomatology. The onset of the disease is typically in middle- and older-age. The authors describe a case of 62-year-old women with sudden development of gait deterioration. This was first diagnosed as a post-ischemic stroke state. However, clinical symptoms progressed into gait ataxia. No analogical case was found in family history. Genetic testing, performed after all other potential causes of the condition were excluded, indicated SCA6. Our case report emphasises the importance of considering rare conditions as part of differential diagnosis. In this case, this protected the patient from further diagnostic testing as well as, importantly, enabled predictive testing in relatives in risk.

Key words:
spinocerebellar ataxia – cerebellar syndrome – hereditary spinocerebellar degenerations

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

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