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NEUROLOGY 2004;62:100-102
© 2004 American Academy of Neurology
Brief Communications

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

C. Criscuolo, MD, S. Banfi, MD, M. Orio, MD, P. Gasparini, MD, A. Monticelli, MD, V. Scarano, MD, F. M. Santorelli, MD, A. Perretti, MD, L. Santoro, MD, G. De Michele, MD and A. Filla, MD

From the Departments of Neurological Sciences (Drs. Criscuolo, Orio, Scarano, Perretti, Santoro, De Michele, and Filla) and Molecular and Cellular Biology and Pathology (Dr. Monticelli), Federico II University, Naples, Italy; Department of Neurological Sciences (Dr. Santorelli), La Sapienza University, Rome, Italy; and Telethon Institute of Genetics and Medicine (Drs. Banfi and Gasparini), Naples, Italy.

Address correspondence and reprint requests to Dr. Chiara Criscuolo, Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, I-80131, Naples, Italy; e-mail: sky569{at}libero.it

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.

Received July 8, 2003. Accepted in final form September 24, 2003.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 23 issue to find the title link for this article.




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