Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

Autosomal recessive spastic ataxia of Charlevoix‐Saguenay is a rare disorder outside Quebec causing childhood‐onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T,...

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Autores principales: Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134137/
https://www.ncbi.nlm.nih.gov/pubmed/27980752
http://dx.doi.org/10.1002/ccr3.722
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author Palmio, Johanna
Kärppä, Mikko
Baumann, Peter
Penttilä, Sini
Moilanen, Jukka
Udd, Bjarne
author_facet Palmio, Johanna
Kärppä, Mikko
Baumann, Peter
Penttilä, Sini
Moilanen, Jukka
Udd, Bjarne
author_sort Palmio, Johanna
collection PubMed
description Autosomal recessive spastic ataxia of Charlevoix‐Saguenay is a rare disorder outside Quebec causing childhood‐onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease.
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spelling pubmed-51341372016-12-15 Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family Palmio, Johanna Kärppä, Mikko Baumann, Peter Penttilä, Sini Moilanen, Jukka Udd, Bjarne Clin Case Rep Case Reports Autosomal recessive spastic ataxia of Charlevoix‐Saguenay is a rare disorder outside Quebec causing childhood‐onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease. John Wiley and Sons Inc. 2016-10-26 /pmc/articles/PMC5134137/ /pubmed/27980752 http://dx.doi.org/10.1002/ccr3.722 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Palmio, Johanna
Kärppä, Mikko
Baumann, Peter
Penttilä, Sini
Moilanen, Jukka
Udd, Bjarne
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
title Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
title_full Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
title_fullStr Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
title_full_unstemmed Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
title_short Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
title_sort novel compound heterozygous mutation in sacs gene leads to a milder autosomal recessive spastic ataxia of charlevoix‐saguenay, arsacs, in a finnish family
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134137/
https://www.ncbi.nlm.nih.gov/pubmed/27980752
http://dx.doi.org/10.1002/ccr3.722
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