title: Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.
authors: Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it
authors: Chiara
authors: C
authors: Criscuolo
authors: Francesco
authors: F
authors: Saccà
authors: Giuseppe
authors: G
authors: De Michele
authors: Pietro
authors: P
authors: Mancini
authors: Onofre
authors: O
authors: Combarros
authors: Jon
authors: J
authors: Infante
authors: Antonio
authors: A
authors: Garcia
authors: Sandro
authors: S
authors: Banfi
authors: Alessandro
authors: A
authors: Filla
authors: José
authors: J
authors: Berciano
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications* / Q000235:genetics*; D025063:Chromosome Disorders / Q000235:genetics; D004576:Electromyography; D005808:Genes, Recessive / Q000235:genetics; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000150:complications*; D020125:Mutation, Missense / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D013030:Spain
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human