Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SACS gene, characterized by late-infantile-onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Recently, several ARSACS cases have been repo...

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Autores principales: Incecik, Faruk, Hergüner, Ozlem M., Bisgin, Atil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144602/
https://www.ncbi.nlm.nih.gov/pubmed/30271475
http://dx.doi.org/10.4103/JPN.JPN_8_18
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author Incecik, Faruk
Hergüner, Ozlem M.
Bisgin, Atil
author_facet Incecik, Faruk
Hergüner, Ozlem M.
Bisgin, Atil
author_sort Incecik, Faruk
collection PubMed
description Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SACS gene, characterized by late-infantile-onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Recently, several ARSACS cases have been reported from outside Canada. We report typical clinical and neuroimaging features in a Turkish child, which confirmed genetic diagnosis of ARSACS.
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spelling pubmed-61446022018-09-28 Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child Incecik, Faruk Hergüner, Ozlem M. Bisgin, Atil J Pediatr Neurosci Case Report Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SACS gene, characterized by late-infantile-onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Recently, several ARSACS cases have been reported from outside Canada. We report typical clinical and neuroimaging features in a Turkish child, which confirmed genetic diagnosis of ARSACS. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC6144602/ /pubmed/30271475 http://dx.doi.org/10.4103/JPN.JPN_8_18 Text en Copyright: © 2018 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Incecik, Faruk
Hergüner, Ozlem M.
Bisgin, Atil
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
title Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
title_full Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
title_fullStr Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
title_full_unstemmed Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
title_short Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child
title_sort autosomal-recessive spastic ataxia of charlevoix-saguenay: a turkish child
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144602/
https://www.ncbi.nlm.nih.gov/pubmed/30271475
http://dx.doi.org/10.4103/JPN.JPN_8_18
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AT bisginatil autosomalrecessivespasticataxiaofcharlevoixsaguenayaturkishchild

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