Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

doi:10.1016/j.ajhg.2008.03.004

Article

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

American journal of human genetics - 1 Apr 2008

Hanein Sylvain, Martin Elodie, Boukhris Amir, Byrne Paula, Goizet Cyril, Hamri Abdelmadjid, Benomar Ali, Lossos Alexander, Denora Paola, Fernandez José, Elleuch Nizar, Forlani Sylvie, Durr Alexandra, Feki Imed, Hutchinson Michael, Santorelli Filippo M, Mhiri Chokri, Brice Alexis, Stevanin Giovanni

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both "uncomplicated" and "complicated" forms have been described with various modes of inheritance. Sixteen loci for autosomal-recessive "complicated" HSP have been mapped. The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented...

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Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

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