IntroductionAutosomal recessive spastic ataxia of Charlevoix-Saguenay(ARSACS) is a neurodegenerative disorder characterized byearly-onsetspasticataxia,dysarthria,nystagmus,distalmusclewasting, peripheral neuropathy, finger and foot deformities,andhypermyelinationofretinalnervefibers[1].Brainimagingoften reveals cerebellar hemispheres and superior vermis atro-phy,spinal cordatrophy, and linearhypointensitiesofthepons[2].Thegene SACS responsible fortheARSACSwasmappedto chromosome 13q11 [3] and consists in one gigantic andeight smaller upstream exons [4]. We report a novel SACSmutation in a Sicilian family with ARSACS phenotype.MethodsClinical StudyA woman, aged 36 years, was referred to our hospital forevaluation of ataxia. She was born from non-consanguineousparentsandearlymotormilestoneswerenormal.Elevenmem-bers of the family were studied. Informed consent wasobtained from all family members involved.Molecular StudyGenomic DNA of the patient and relatives was extractedfrom blood lymphocytes using standard procedure. We per-formed sequence analysis of the transcript of the SACS gene(NM_014363.4) that comprises nine exons. The nine codingexons, including the gigantic exon described previously, aswell as flanking intronic sequences of the SACS gene werepolymerase chain reaction (PCR)-amplified from genomicDNA by using 37 primer pairs. Primer sequences and am-plificationparameters are available onrequest. Purified PCRproducts (Wizard SV Gel and PCR Clean-Up System,Promega Corporation 2800 Woods Hollow Road Madison,WI 53711-5399 USA) were directly sequenced on anABI3130 automated sequencer (Applied Biosystems, FosterCity, CA, USA). In addition, mutation analysis was per-formed in patient’s parents and siblings to confirm the