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

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Palmio , J , Kärppä , M , Baumann , P , Penttilä , S , Moilanen , J & Udd , B 2016 , ' Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family ' , Clinical Case Reports , vol. 4 , no. 12 , pp. 1151-1156 . https://doi.org/10.1002/ccr3.722

Title: Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family
Author: Palmio, Johanna; Kärppä, Mikko; Baumann, Peter; Penttilä, Sini; Moilanen, Jukka; Udd, Bjarne
Contributor: University of Helsinki, University of Oulu
University of Helsinki, Department of Medical and Clinical Genetics
Date: 2016-10-26
Language: eng
Number of pages: 6
Belongs to series: Clinical Case Reports
ISSN: 2050-0904
URI: http://hdl.handle.net/10138/254910
Abstract: Key Clinical Message 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.
Subject: Autosomal recessive
SACS gene
spastic ataxia
1184 Genetics, developmental biology, physiology
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