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January 9, 2006

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

January 10, 2006 issue
66 (1) 112-114

Abstract

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.

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References

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Published In

Neurology®
Volume 66Number 1January 10, 2006
Pages: 112-114
PubMed: 16401858

Publication History

Published online: January 9, 2006
Published in print: January 10, 2006

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Authors

Affiliations & Disclosures

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

Notes

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: [email protected]

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