title: Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
abstract: 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, inSACSgene. The mutations segregated with the disease.
authors.affiliation: Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Tampere Finland.
authors.forename: Johanna
authors.initials: J
authors.lastname: Palmio
authors.affiliation: Department of Neurology Oulu University Hospital and University of Oulu Oulu Finland.
authors.forename: Mikko
authors.initials: M
authors.lastname: Kärppä
authors.affiliation: Department of Neurology Lapland Central Hospital Rovaniemi Finland.
authors.forename: Peter
authors.initials: P
authors.lastname: Baumann
authors.affiliation: Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Tampere Finland.
authors.forename: Sini
authors.initials: S
authors.lastname: Penttilä
authors.affiliation: Department of Clinical Genetics and Medical Research Center Oulu Oulu University Hospital and University of Oulu Oulu Finland.
authors.forename: Jukka
authors.initials: J
authors.lastname: Moilanen
authors.affiliation: Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Tampere Finland; Folkhälsan Institute of Genetics and the Department of Medical Genetics Haartman Institute University of Helsinki Helsinki Finland; Department of Neurology Vaasa Central Hospital Vaasa Finland.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
keywords: Autosomal recessive; SACS gene; spastic ataxia