open access

Vol 51, No 6 (2017)
Short communications
Submitted: 2017-07-12
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations

Magdalena Krygier, Agnieszka Konkel, Michał Schinwelski, Małgorzata Rydzanicz, Anna Walczak, Magdalena Sildatke-Bauer, Rafał Płoski, Jarosław Sławek
DOI: 10.1016/j.pjnns.2017.08.003
·
Neurol Neurochir Pol 2017;51(6):481-485.

open access

Vol 51, No 6 (2017)
Short communications
Submitted: 2017-07-12

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.

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.

Get Citation

Keywords

ARSACS, Cerebellum, Neuropsychology, SACS, Spastic ataxia

About this article
Title

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

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 51, No 6 (2017)

Pages

481-485

DOI

10.1016/j.pjnns.2017.08.003

Bibliographic record

Neurol Neurochir Pol 2017;51(6):481-485.

Keywords

ARSACS
Cerebellum
Neuropsychology
SACS
Spastic ataxia

Authors

Magdalena Krygier
Agnieszka Konkel
Michał Schinwelski
Małgorzata Rydzanicz
Anna Walczak
Magdalena Sildatke-Bauer
Rafał Płoski
Jarosław Sławek

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