title: Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.
abstract: Numerous genes causing autosomal recessive hereditary spastic paraplegia (AR HSP) have been described. Despite this, in many families the causative gene and mutation are unknown. In this study we sequenced the Pi4k2a gene, whose knockout has been shown to cause a typical HSP model in mice, in 24 index cases of autosomal recessive HSP not known to be linked to any other HSP locus. No pathogenic changes were identified in exons or splice sites, suggesting the Pi4k2a gene may not be a cause of AR HSP in humans.
authors.affiliation: UCL Institute of Neurology, University College, London, UK.
authors.forename: Mike
authors.initials: M
authors.lastname: Cleeter
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Paul
authors.initials: P
authors.lastname: Simons
authors.forename: Raya
authors.initials: R
authors.lastname: Al-Shawi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
authors.forename: Justin
authors.initials: J
authors.lastname: Hsuan
authors.forename: Thomas T
authors.initials: TT
authors.lastname: Warner
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000818:Animals; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D055815:Young Adult
chemical_list: D015778:Minor Histocompatibility Antigens; D017853:Phosphotransferases (Alcohol Group Acceptor); C402182:phosphatidylinositol phosphate 4-kinase