Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

Joana Pimenta,Ana Filipa Brandão,Carmen Costa,Isabel Fineza,Isabel Alonso,Jorge Sequeiros,Luís Negrão

doi:10.15761/pd.1000137

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

Highlights

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disease characterized by cerebellar ataxia, peripheral neuropathy and pyramidal tract signs
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS, MIM 270550) is an early-onset neurodegenerative disease caused by mutations in SACS, a large gene on chromosome 13q12.12 [1,2]
ARSACS originally found among inhabitants of the Charlevoix-Saguenay-Lac-Saint-Jean region of Québec [4], with an estimated incidence of 1/1932 habitants [5], but has since been increasingly reported worldwide [6,7]

Summary

Case Report

Joana Pimenta1*, Carmen Costa, Isabel Alonso, Ana Filipa Brandão, Jorge Sequeiros, Luís Negrão and Isabel Fineza1 1Neuropediatria - Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, CHUC, Portugal 2CGPP, IBMC – Instituto de Biologia Molecular e Celular, i3S – Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal 3ICBAS, Universidade do Porto, Portugal 4Unidade de Doenças Neuromusculares - Serviço de Neurologia, CHUC, Portugal

Introduction

Case report

Discussion