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Neurology 2000;55:702-705
© 2000 American Academy of Neurology
Brief Communications

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

F. M. Santorelli, MD, C. Patrono, PhD, D. Fortini, PhD, A. Tessa, PhD, G. Comanducci, MD, E. Bertini, MD, A. Pierallini, MD, G. A. Amabile, MD and C. Casali, MD, PhD

From Molecular Medicine (Drs. Santorelli, Patrono, Tessa, and Bertini), IRCCS—Bambino Gesù; and Neurological Institute (Drs. Fortini, Comanducci, Amabile, and Casali) and Department of Neurological Sciences and Neurosciences (Dr. Pierallini), "La Sapienza" University, Rome, Italy.

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

The authors studied a family with pure autosomal dominant spastic paraplegia (ADHSP) that showed a marked intrafamilial variability in both age at onset and clinical severity, ranging from severe congenital presentation to mild involvement after age 55. They found a novel mutation in the SPG4 gene, which segregates with the disease in six patients. The mutation affects the consensus donor splice site of SPG4 intron 16, resulting in a premature termination codon at amino acid 578. The data confirm the pathologic significance of SPG4 mutations in pure ADHSP and add to the list of known SPG4 allelic variants.




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