Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.
Amyotrophic Lateral Sclerosis. 2010-12-30; 12(2): 148-149
DOI: 10.3109/17482968.2010.543689
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1. Amyotroph Lateral Scler. 2011 Mar;12(2):148-9. doi: 10.3109/17482968.2010.543689.
Epub 2010 Dec 30.
Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in
autosomal recessive hereditary spastic paraplegia.
Cleeter M(1), Houlden H, Simons P, Al-Shawi R, Stevanin G, Durr A, Hsuan J,
Warner TT.
Author information:
(1)UCL Institute of Neurology, University College, London, UK.
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.
DOI: 10.3109/17482968.2010.543689
PMID: 21190509 [Indexed for MEDLINE]