Journal Article

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

Stephan Klebe, Hamid Azzedine, Alexandra Durr, Patrick Bastien, Naima Bouslam, Nizar Elleuch, Sylvie Forlani, Celine Charon, Michel Koenig, Judith Melki, Alexis Brice and Giovanni Stevanin

in Brain

Published on behalf of The Guarantors of Brain

Volume 129, issue 6, pages 1456-1462
ISSN: 0006-8950
Published online January 2006 | e-ISSN: 1460-2156 | DOI: http://dx.doi.org/10.1093/brain/awl012
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3

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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.

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

Journal Article.  3247 words.  Illustrated.

Subjects: Neurology ; Neuroscience

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