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.
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Animals
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Child
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Child, Preschool
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DNA Mutational Analysis
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Disease Models, Animal
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Humans
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Mice
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Mice, Knockout
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Middle Aged
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Minor Histocompatibility Antigens
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Mutation*
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Phosphotransferases (Alcohol Group Acceptor) / genetics*
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Spastic Paraplegia, Hereditary / diagnosis
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Spastic Paraplegia, Hereditary / enzymology*
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Spastic Paraplegia, Hereditary / genetics*
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Young Adult
Substances
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Minor Histocompatibility Antigens
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Phosphotransferases (Alcohol Group Acceptor)
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phosphatidylinositol phosphate 4-kinase