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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

A novel mutation in SACS gene in a family from southern Italy.

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.[1]


  1. A novel mutation in SACS gene in a family from southern Italy. Criscuolo, C., Banfi, S., Orio, M., Gasparini, P., Monticelli, A., Scarano, V., Santorelli, F.M., Perretti, A., Santoro, L., De Michele, G., Filla, A. Neurology (2004) [Pubmed]
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