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NEUROLOGY 2006;66:112-114
© 2006 American Academy of Neurology
Brief Communications

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

M. Namekawa, MD, PhD, P. Ribai, MD, I. Nelson, PhD, S. Forlani, PhD, F. Fellmann, MD, C. Goizet, MD, C. Depienne, PhD, G. Stevanin, PhD, M. Ruberg, PhD, A. Dürr, MD, PhD and A. Brice, MD

From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpêtrière Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpêtrière Hospital, Paris, France; Salpêtrière Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besançon, Besançon, France (F.F.); and Department of Neurogenetics, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France (C.G.).

Address correspondence and reprint requests to Dr. Alexandra Dürr, INSERM U679 (former 289), Hôpital de la Salpêtrière, 47, Boulevard de l’Hôpital, 75651, Paris Cedex 13, France; e-mail: durr{at}ccr.jussieu.fr

Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years (31.8%). Later onset was not observed. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap.

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 January 10 issue to find the title link for this article.

Supported by grants from the French National Institute for Health and Medical Research, the VERUM foundation (A.B.), the GIS/Rare Diseases Institute (A02191DS-SPATAX; A.D.), Lilly (Japan; M.N.), the French Foreign Ministry (M.N.), la Fondation Recherche Médicale (M.N.), Collège de Médecine des Hôpitaux de Paris (P.R.), and European Neurological Society (P.R.).

Disclosure: The authors report no conflicts of interest.

Received July 7, 2005. Accepted in final form September 28, 2005.




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