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Neurology 2002;59:2002-2005
© 2002 American Academy of Neurology
Brief Communications

SPG3A

An additional family carrying a new atlastin mutation

A. Tessa, PhD*, C. Casali, MD PhD*, M. Damiano, MD, C. Bruno, MD, D. Fortini, PhD, C. Patrono, PhD, F. Cricchi, MD, M. Valoppi, BS, G. Nappi, MD, G.A. Amabile, MD, E. Bertini, MD and F.M. Santorelli, MD

*These authors contributed equally to this work.
From Molecular Medicine and Neurology (Drs. Tessa, Patrono, Bertini, and Santorelli), IRCCS–Bambino Gesú Hospital, Rome; Department of Clinical Neurology (Drs. Casali, Damiano, Cricchi, Nappi, Amabile, and Santorelli), ORL and Rehabilitation, "La Sapienza" University, Rome; Neuromuscular Service (Dr. Bruno), Department of Pediatrics, IRCCS–G. Gaslini, University of Genova; and Molecular Neurogenetics, Center of Experimental Neurobiology (Drs. Fortini and Nappi, and M. Valoppi), IRCCS–Mondino–Tor Vergata–S. Lucia, Rome, Italy.

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

The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination of the gene product atlastin. These data add a new variant to the second disease gene in autosomal dominant hereditary spastic paraplegia (ADHSP) and lend definitive support to its causative role. By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.




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