title: A polymorphism in the poliovirus receptor gene differs in motor neuron disease.
abstract: Poliovirus has been implicated in the etiology of sporadic motor neuron disease. DNA polymorphisms in the poliovirus receptor gene (PVR) are associated with persistent poliovirus infection in cell culture. PVR DNA polymorphisms were therefore studied in 110 cases of amyotrophic lateral sclerosis, 30 cases of progressive muscular atrophy (a disorder of lower motor neurons) and 280 normal controls. In exon 2 of PVR the heterozygous Ala67Thr change was detected in 20.0% of progressive muscular atrophy, 11.8% of amyotrophic lateral sclerosis and 6.8% of control subjects. The frequency of the polymorphism was significantly higher in patients with progressive muscular atrophy than in controls. Differences in the poliovirus receptor gene may result in slowly progressive viral cytopathic effects that lead to lower motor neuron forms of motor neuron disease.
authors.affiliation: Department of Pathology, D06, Central Clinical School, University of Sydney, New South Wales 2006, Australia.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Saunderson
authors.forename: Bing
authors.initials: B
authors.lastname: Yu
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: Trent
authors.forename: Roger
authors.initials: R
authors.lastname: Pamphlett
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D011991:Receptors, Virus / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D011991:Receptors, Virus; C066100:poliovirus receptor