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

Johanna Palmio; Mikko Kärppä; Peter Baumann; Sini Penttilä; Jukka Moilanen; Bjarne Udd

doi:10.1002/ccr3.722

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

Clin Case Rep. 2016 Oct 26;4(12):1151-1156. doi: 10.1002/ccr3.722. eCollection 2016 Dec.

Authors

Johanna Palmio¹, Mikko Kärppä², Peter Baumann³, Sini Penttilä¹, Jukka Moilanen⁴, Bjarne Udd⁵

Affiliations

¹ Department of Neurology Neuromuscular Research Center Tampere University and University Hospital Tampere Finland.
² Department of Neurology Oulu University Hospital and University of Oulu Oulu Finland.
³ Department of Neurology Lapland Central Hospital Rovaniemi Finland.
⁴ Department of Clinical Genetics and Medical Research Center Oulu Oulu University Hospital and University of Oulu Oulu Finland.
⁵ 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.

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, in SACS gene. The mutations segregated with the disease.

Keywords: Autosomal recessive; SACS gene; spastic ataxia.

Publication types

Case Reports