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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations
Affiliations- Department of Biology and Genetics, Medical University of Gdańsk, Dębinki 1, 80-211 Gdańsk, Poland
- Department of Neurology, St. Adalbert Hospital, Gdansk, Poland
- Neurological-Psychiatric Nursing Department, Medical University of Gdańsk, Ul. Dębinki 1, Gdańsk, Poland
- Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland
- Department of Ophthalmology, St. Adalbert Hospital, Copernicus, Al. Jana Pawła II 50, Gdańsk, Poland
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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.
Keywords
ARSACS, Cerebellum, Neuropsychology, SACS, Spastic ataxia
About this articleTitle
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
481-485
Page views
423
Article views/downloads
429
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
