Vol 51, No 6 (2017)

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations

Magdalena Krygier1, Agnieszka Konkel23, Michał Schinwelski23, Małgorzata Rydzanicz4, Anna Walczak4, Magdalena Sildatke-Bauer5, Rafał Płoski4, Jarosław Sławek23
DOI: 10.1016/j.pjnns.2017.08.003
Neurol Neurochir Pol 2017;51(6):481-485.

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary ataxia, characterized by the triad of early-onset cerebellar ataxia, peripheral sensorimotor neuropathy and lower limb spasticity. Although ARSACS is increasingly reported worldwide, we present the first Polish family with a comprehensive clinical and neuropsychological assessment, harboring two novel mutations in the SACS gene. Our results demonstrate the variability in cognitive and behavioral profiles in ARSACS, which is in line with other heredodegenerative ataxias. One should be aware of ARSACS in cases of autosomally recessive inherited ataxias without common mutations.

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Neurologia i Neurochirurgia Polska