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

• Published in: Brain (London, England : 1878) England : 1878), 2006-06, Vol.129 (6), p.1456-1462
• Main Authors: Klebe, Stephan, Azzedine, Hamid, Durr, Alexandra, Bastien, Patrick, Bouslam, Naima, Elleuch, Nizar, Forlani, Sylvie, Charon, Celine, Koenig, Michel, Melki, Judith, Brice, Alexis, Stevanin, Giovanni
• Format: Article
• Language: English
• Subjects: Adult; Age of Onset; autosomal recessive spastic paraplegia; Biochemistry, Molecular Biology; Biological and medical sciences; Cerebellar Ataxia; Cerebellar Ataxia - complications; Cerebellar Ataxia - genetics; Cerebellar Ataxia - physiopathology; chromosome 2q37.3; Chromosomes, Human, Pair 2; Chromosomes, Human, Pair 2 - genetics; Consanguinity; Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Genes, Recessive; Genotype; Hereditary Sensory and Autonomic Neuropathies; Hereditary Sensory and Autonomic Neuropathies - complications; Hereditary Sensory and Autonomic Neuropathies - genetics; Hereditary Sensory and Autonomic Neuropathies - physiopathology; Humans; Life Sciences; linkage; Lod Score; Male; Medical sciences; Molecular biology; Nervous system (semeiology, syndromes); Neural Conduction; Neurology; Pedigree; Phenotype; Spastic Paraplegia, Hereditary; Spastic Paraplegia, Hereditary - complications; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - physiopathology; SPG30
• ISSN: 0006-8950; 1460-2156
• DOI: 10.1093/brain/awl012

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.