Mutations in SACS cause atypical and late-onset forms of ARSACS
Baets, J × Deconinck, T Smets, K Goossens, D Van den Bergh, P Dahan, K Schmedding, E Santens, P Rasic, V Milic Van Damme, Philip Robberecht, Wim De Meirleir, L Michielsens, B Del-Favero, J Jordanova, A De Jonghe, P #
Neurology vol:75 issue:13 pages:1181-8
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a complex neurodegenerative disorder caused by mutations in SACS. The phenotype consists of a childhood-onset triad of cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs.