Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
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.
Criscuolo
Chiara
C
Department of Neurological Sciences, Federico II University, Naples, Italy. sky569@libero.it
Saccà
Francesco
F
De Michele
Giuseppe
G
Mancini
Pietro
P
Combarros
Onofre
O
Infante
Jon
J
Garcia
Antonio
A
Banfi
Sandro
S
Filla
Alessandro
A
Berciano
José
J
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
D006360:Heat-Shock Proteins; C404403:SACS protein, human