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NEUROLOGY 2004;62:103-106
© 2004 American Academy of Neurology
Brief Communications

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

G. S. Grieco, PhD, A. Malandrini, MD, G. Comanducci, MD, V. Leuzzi, MD, M. Valoppi, BS, A. Tessa, PhD, S. Palmeri, MD, L. Benedetti, MD, A. Pierallini, MD, S. Gambelli, MD, A. Federico, MD, F. Pierelli, MD, E. Bertini, MD, C. Casali, MD PhD and F. M. Santorelli, MD

From Molecular Neurogenetics (Dr. Grieco and M. Valoppi), IRCCS-C Mondino, Center of Experimental Neurobiology Mondino-Tor Vergata-S. Lucia, Rome; Institute of Neurological Sciences (Drs. Malandrini, Palmeri, Gambelli, and Federico), University of Siena; Departments of Neurology (Drs. Comanducci, Benedetti, Pierelli, and Casali, and M. Valoppi), Child Neurology and Psychiatry (Dr. Leuzzi), and Neurological Sciences (Dr. Pierallini), La Sapienza University, Rome; Molecular Medicine (Drs. Tessa, Bertini, and Santorelli), IRCCS-Bambino Gesù, Rome; and IRCCS-Neuromed (Dr. Pierelli), Pozzilli (IS), Italy.

Address correspondence and reprint requests to Dr. F.M. Santorelli, Molecular Medicine, Bambino Gesù Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy; e-mail: fms3{at}na.flashnet.it

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.

Received June 30, 2003. Accepted in final form October 6, 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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