title: Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).
abstract: Mutations in both the spastin and paraplegin genes have been associated with upper motor neurone degeneration in hereditary spastic paraparesis. The aim of this study was to investigate if mutation in these genes is associated with upper motor neurone degeneration in primary lateral sclerosis (PLS) or selected motor neurone disease (MND) cases. DNA was extracted from whole blood and screened using single stranded conformation polymorphism and heteroduplex analysis. No mutation in the spastin or paraplegin genes was identified in the PLS or MND cases. Polymorphism was identified in the paraplegin gene but no association was shown with PLS or MND. We therefore conclude that mutation in spastin and paraplegin genes does not appear to cause PLS or MND.
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008666:Metalloendopeptidases / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D000074181:Spastin
chemical_list: D008666:Metalloendopeptidases; C112889:SPG7 protein, human; D000251:Adenosine Triphosphatases; D000074183:ATPases Associated with Diverse Cellular Activities; D000074181:Spastin; C400283:SPAST protein, human