title: Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.
authors.affiliation: Molecular Neurogenetics, IRCCS-C Mondino, Center of Experimental Neurobiology Mondino-Tor Vergata-S. Lucia, Rome, Italy.
authors.forename: G S
authors.initials: GS
authors.lastname: Grieco
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: G
authors.initials: G
authors.lastname: Comanducci
authors.forename: V
authors.initials: V
authors.lastname: Leuzzi
authors.forename: M
authors.initials: M
authors.lastname: Valoppi
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: S
authors.initials: S
authors.lastname: Palmeri
authors.forename: L
authors.initials: L
authors.lastname: Benedetti
authors.forename: A
authors.initials: A
authors.lastname: Pierallini
authors.forename: S
authors.initials: S
authors.lastname: Gambelli
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: F
authors.initials: F
authors.lastname: Pierelli
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: C
authors.initials: C
authors.lastname: Casali
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006360:Heat-Shock Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009128:Muscle Spasticity / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human