title: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.
abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.
authors.affiliation: Department of Neurology and Neurosurgery, Division of General Neurology and Ataxias, Universidade Federal de São Paulo, São Paulo, SP, Brazil. zeluizpedroso@yahoo.com.br
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.forename: Agessandro
authors.initials: A
authors.lastname: Abrahão
authors.forename: René Leandro Magalhães
authors.initials: RL
authors.lastname: Rivero
authors.forename: Carolina
authors.initials: C
authors.lastname: Abdalla
authors.forename: Nitamar
authors.initials: N
authors.lastname: Abdala
authors.forename: Orlando Graziani Povoas
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D000639:Amitriptyline / Q000031:analogs & derivatives / Q000627:therapeutic use; D001418:Baclofen / Q000627:therapeutic use; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009125:Muscle Relaxants, Central / Q000627:therapeutic use; D009128:Muscle Spasticity / Q000175:diagnosis* / Q000188:drug therapy; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy
chemical_list: D009125:Muscle Relaxants, Central; D000639:Amitriptyline; C004704:cyclobenzaprine; D001418:Baclofen