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NEUROLOGY 2004;62:1875-1878
© 2004 American Academy of Neurology
Brief Communications

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

A. Orlacchio, MD PhD, F. Gaudiello, MD, A. Totaro, BSc, R. Floris, MD, P. H. St George-Hyslop, MD FRCP(C), G. Bernardi, MD and T. Kawarai, MD

From the Laboratory of Neurogenetics (Drs. Orlacchio and Bernardi, A. Totaro), I.R.C.C.S. Santa Lucia, Department of Neuroscience (Drs. Orlacchio and Bernardi) and Department of Diagnostics for Imaging and Interventional Radiology (Drs. Gaudiello and Floris), University of Rome "Tor Vergata," Rome, Italy; and Centre for Research in Neurodegenerative Diseases (Drs. St George-Hyslop and Kawarai), University of Toronto, and Division of Neurology (Dr. St George-Hyslop), Department of Medicine, Toronto Western Hospital, University Health Network, Ontario, Canada.

Address correspondence and reprint requests to Dr. A. Orlacchio, Laboratorio di Neurogenetica, I.R.C.C.S. Santa Lucia, Via Ardeatina 354, Rome 00179, Italy; e-mail: a.orlacchio{at}hsantalucia.it

The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital arachnoid cysts inherited as an autosomal dominant trait. A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract.

Received September 23, 2003. Accepted in final form January 13, 2004.




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