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NEUROLOGY 2007;68:1837-1840
© 2007 American Academy of Neurology

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21

G. Stevanin, PhD, C. Paternotte, PhD, P. Coutinho, MD, PhD, S. Klebe, MD, N. Elleuch, MD, J. L. Loureiro, MD, E. Denis, BSc, V. T. Cruz, MD, A. Dürr, MD, PhD, J.-F Prud’homme, MD, J. Weissenbach, PhD, A. Brice, MD and 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.

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 jamile.hazan{at}kcl.ac.uk

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.

Received June 2, 2006. Accepted in final form January 29, 2007.




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A. Boukhris, G. Stevanin, I. Feki, E. Denis, N. Elleuch, M. I. Miladi, J. Truchetto, P. Denora, S. Belal, C. Mhiri, et al.
Hereditary Spastic Paraplegia With Mental Impairment and Thin Corpus Callosum in Tunisia: SPG11, SPG15, and Further Genetic Heterogeneity
Arch Neurol, March 1, 2008; 65(3): 393 - 402.
[Abstract] [Full Text] [PDF]


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