Article
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Oct 2007
Klebe Stephan, Durr Alexandra, Bouslam Naima, Grid Djamel, Paternotte Caroline, Depienne Christel, Hanein Sylvain, Bouhouche Ahmed, Elleuch Nizar, Azzedine Hamid, Poea-Guyon Sandrine, Forlani Sylvie, Denis Elodie, Charon Céline, Hazan Jamile, Brice Alexis, Stevanin Giovanni
Abstract excerpt
Thirty-three different loci for hereditary spastic paraplegias (HSP) have been mapped, and 15 responsible genes have been identified. Autosomal recessive spastic paraplegias (ARHSPs) usually have clinically complex phenotypes but the SPG5, SPG24, and SPG28 loci are considered to be associated with pure forms of the disease. We performed a genome-wide scan in a large French family. Fine mapping of the refined SPG5...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 8
- Family Health
- Genes, Recessive
- Genetic Linkage
- Genome, Human
- Humans
- Microsatellite Repeats