Rare mutations cause HSP

Rare SPG8 mutations have been found in six families on three continents

The eighth HSP locus, SPG8, is on chromosome 8p24.13. The three families previously linked to the SPG8 locus present with relatively severe, pure spastic paraplegia. We have identified three mutations in the KIAA0196 gene in six families that map to the SPG8 locus.

One mutation, V626F, segregated in three large North American families with European ancestry and in one British family. An L619F mutation was found in a Brazilian family. The third mutation, N471D, was identified in a smaller family of European origin and lies in a spectrin domain. None of these mutations were identified in 500 control individuals.

The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP.

Am J Hum Genet. 2007 Jan;80(1):152-61. Epub 2006 Dec 1.
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA.

Hopital Notre-Dame-CHUM, Montreal, Quebec, H2L 4M1, Canada.