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Abstract

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy. We have mapped the disease locus SPG32 to chromosome 14q12-q21 within a 30-cM interval, which excludes the atlastin gene.

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Published In

Neurology®
Volume 68Number 21May 22, 2007
Pages: 1837-1840
PubMed: 17515546

Publication History

Published online: May 21, 2007
Published in print: May 22, 2007

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Authors

Affiliations & Disclosures

G. Stevanin, PhD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
C. Paternotte, PhD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
P. Coutinho, MD, PhD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
S. Klebe, MD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
N. Elleuch, MD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
J. L. Loureiro, MD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
E. Denis, BSc
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
V. T. Cruz, MD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
A. Dürr, MD, PhD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
J.-F Prud’homme, MD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
J. Weissenbach, PhD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
A. Brice, MD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.
J. Hazan, PhD
From INSERM U679 (formerly U289) (G.S., S.K., N.E., E.D., A.D., A.B.), Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France; AP-HP (G.S., A.D., A.B.), Pitié-Salpêtrière Hospital, Department of Genetics, Cytogenetics and Embryology, Paris, France; Génoscope (C.P., J.W., J.H.), CNS, Evry, France; Serviço Neurologia (P.C., J.L.L., V.T.C.), Hospital Sao Sebastiao, Santa Maria da Feira, Portugal; UnIGENe (P.C., J.L.L.), Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal; Généthon (J.-F.P.), Evry, France; AP-HP (A.B.), Pitié-Salpêtrière Hospital, Federation of Neurology, Paris, France; Pierre and Marie Curie Medical School (A.B.), Pitié-Salpêtrière Hospital, Paris, France; MRC Centre for Developmental Neurobiology (J.H.), King's College London, Guy's Hospital Campus, London, UK.

Notes

Address correspondence and reprint requests to Dr. Jamilé Hazan, MRC Centre for Developmental Neurobiology, King's College London, New Hunt's House, Guy's Hospital Campus, London SE1 1UL, UK [email protected]

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