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Brain Advance Access originally published online on January 24, 2006
Brain 2006 129(6):1456-1462; doi:10.1093/brain/awl012
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© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3

Stephan Klebe1, Hamid Azzedine1, Alexandra Durr1,2, Patrick Bastien5, Naima Bouslam1,9, Nizar Elleuch1, Sylvie Forlani1, Celine Charon6, Michel Koenig8, Judith Melki7, Alexis Brice1,2,3,4 and Giovanni Stevanin1,2

1 INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital Paris, France 2 Department of Genetics, Cytogenetics and Embryology, AP-HP, Salpetriere Hospital Paris, France 3 Federation of Neurology, AP-HP, Salpetriere Hospital Paris, France 4 Pitie-Salpetriere Medical School, Pierre and Marie Curie University (Paris VI) Paris, France 5 Clinician, Gerardmer Evry, France 6 National Genotyping Centre (CNG) Evry, France 7 INSERM E223, Molecular Neurogenetics Laboratory Evry, France 8 Institute of Genetics and Molecular and Cellular Biology, Illkirch, CU de Strasbourg France 9 Neurology B and Neurogenetics Unit, Specialties Hospital Rabat, Morocco

Correspondence to: Prof. Alexis Brice and Dr Giovanni Stevanin, INSERM U679, Salpetriere Hospital, 47 boulevard de l'Hôpital 75651 Paris Cedex 13, France E-mail: brice{at}ccr.jussieu.fr and stevanin{at}ccr.jussieu.fr

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity in the lower limbs. Twenty-nine different loci (SPG) have been mapped so far, and 11 responsible genes have been identified. Clinically, one distinguishes between pure and complex HSP forms which are variably associated with numerous combinations of neurological and extra-neurological signs. Less is known about autosomal recessive forms (ARHSP) since the mapped loci have been identified often in single families and account for only a small percentage of patients. We report a new ARHSP locus (SPG30) on chromosome 2q37.3 in a consanguineous family with seven unaffected and four affected members of Algerian origin living in Eastern France with a significant multipoint lod score of 3.8. Ten other families from France (n = 4), Tunisia (n = 2), Algeria (n = 3) and the Czech Republic (n = 1) were not linked to the newly identified locus thus demonstrating further genetic heterogeneity. The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan.

Key Words: SPG30; chromosome 2q37.3; autosomal recessive spastic paraplegia; linkage

Abbreviations: HSP, hereditary spastic paraplegia

Received November 22, 2005. Revised December 15, 2005. Accepted December 20, 2005.


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T. Warnecke, T. Duning, A. Schwan, H. Lohmann, J. T. Epplen, and P. Young
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation
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