Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

@article{Klebe2007SpasticP5,
  title={Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.},
  author={Stephan Klebe and Alexandra Durr and Naima Bouslam and Djamel Grid and Caroline Paternotte and Christel Depienne and Sylvain Hanein and Ahmed Bouhouche and Nizar Elleuch and Hamid Azzedine and Sandrine Poea-Guyon and Sylvie Forlani and Elodie Denis and C{\'e}line Charon and Jamil{\'e} Hazan and Alexis Brice and Giovanni Stevanin},
  journal={American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
  year={2007},
  volume={144B 7},
  pages={
          854-61
        }
}
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 region on chromosome 8q12 was performed in another 17 ARHSP families with… CONTINUE READING
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