title: A novel mutation in SACS gene in a family from southern Italy.
abstract: A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it
authors.forename: C
authors.initials: C
authors.lastname: Criscuolo
authors.forename: S
authors.initials: S
authors.lastname: Banfi
authors.forename: M
authors.initials: M
authors.lastname: Orio
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: A
authors.initials: A
authors.lastname: Monticelli
authors.forename: V
authors.initials: V
authors.lastname: Scarano
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: A
authors.initials: A
authors.lastname: Perretti
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: A
authors.initials: A
authors.lastname: Filla
mesh_terms: D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005820:Genetic Testing; D006239:Haplotypes; D034381:Hearing Loss / Q000150:complications / Q000175:diagnosis; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis; D007558:Italy; D009128:Muscle Spasticity / Q000150:complications / Q000175:diagnosis; D009154:Mutation / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction; D010641:Phenotype; D035781:Siblings; D013497:Sural Nerve / Q000473:pathology
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human