Brain Advance Access published online on January 24, 2006
Brain, doi:10.1093/brain/awl012
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1 INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France
* To whom correspondence should be addressed. 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.
Received November 22, 2005
Revised December 15, 2005
Accepted December 20, 2005
Article
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
Stephan Klebe 1,
Hamid Azzedine 1,
Alexandra Durr 2,
Patrick Bastien 3,
Naima Bouslam 4,
Nizar Elleuch 1,
Sylvie Forlani 1,
Celine Charon 5,
Michel Koenig 6,
Judith Melki 7,
Alexis Brice 8 *,
and
Giovanni Stevanin 2
2 INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France; Department of Genetics, Cytogenetics and Embryology, AP-HP, Salpetriere Hospital, Paris, France
3 Clinician, Gerardmer, Evry, France
4 INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France; Neurology B and Neurogenetics Unit, Specialties Hospital, Rabat, Morocco
5 National Genotyping Centre (CNG), Evry, France
6 Institute of Genetics and Molecular and Cellular Biology, Illkirch, CU de Strasbourg, France
7 INSERM E223, Molecular Neurogenetics Laboratory, Evry, France
8 INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France; Department of Genetics, Cytogenetics and Embryology, AP-HP, Salpetriere Hospital, Paris, France; Federation of Neurology, AP-HP, Salpetriere Hospital, Paris, France; Pitie-Salpetriere Medical School, Pierre and Marie Curie University (Paris VI), Paris, France
Alexis Brice, E-mail: brice{at}ccr.jussieu.fr
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