title: Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
abstract: 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.
authors.affiliation: INSERM U679, Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.
authors.forename: Stephan
authors.initials: S
authors.lastname: Klebe
authors.forename: Hamid
authors.initials: H
authors.lastname: Azzedine
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Patrick
authors.initials: P
authors.lastname: Bastien
authors.forename: Naima
authors.initials: N
authors.lastname: Bouslam
authors.forename: Nizar
authors.initials: N
authors.lastname: Elleuch
authors.forename: Sylvie
authors.initials: S
authors.lastname: Forlani
authors.forename: Celine
authors.initials: C
authors.lastname: Charon
authors.forename: Michel
authors.initials: M
authors.lastname: Koenig
authors.forename: Judith
authors.initials: J
authors.lastname: Melki
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
mesh_terms: D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008126:Lod Score; D008297:Male; D009431:Neural Conduction; D010375:Pedigree; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000235:genetics* / Q000503:physiopathology