title: Mutational study of the nuclear factor kappa B inducing kinase gene in patients with progressive supranuclear palsy.
abstract: The nuclear factor kappa B inducing kinase gene (NIK) is located near the region of the haplotype associated with progressive supranuclear palsy (PSP) in chromosome 17q. We have analysed the coding region of the NIK gene in PSP patients through single strand conformation polymorphism and direct sequencing, in order to investigate the possible existence of pathogenic mutations. A change in exon 15 consisting of a G/C variation in position 2839 was found. This change was then analysed through restriction endonuclease HphI in 40 PSP samples and 35 control samples, but no differences in allelic frequency were found between the PSP and control groups. Our results do not support a pathogenic role of the NIK gene in PSP.
authors.affiliation: Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic Universitari, Villarroel 170, 08036 Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Campdelacreu
authors.forename: Mario
authors.initials: M
authors.lastname: Ezquerra
authors.forename: Esteban
authors.initials: E
authors.lastname: Muñoz
authors.forename: Rafael
authors.initials: R
authors.lastname: Oliva
authors.forename: Eduardo
authors.initials: E
authors.lastname: Tolosa
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016328:NF-kappa B / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015183:Restriction Mapping; D013494:Supranuclear Palsy, Progressive / Q000201:enzymology* / Q000235:genetics*; D000097782:NF-kappaB-Inducing Kinase
chemical_list: D016328:NF-kappa B; D017346:Protein Serine-Threonine Kinases; D000097782:NF-kappaB-Inducing Kinase