title: Parkin polymorphisms in progressive supranuclear palsy.
abstract: Progressive supranuclear palsy (PSP) is a mostly sporadic disorder of unknown pathogenesis. Familial PSP have been reported related to mutations of microtubule-associated protein tau (MAPT). Mutations of the Park2 gene cause autosomal recessive parkinsonism with neuropathological findings consistent with neurofibrillary tangles and tau immunoreactive lesions. We analysed the presence of MAPT and Park2 mutations and polymorphisms in sporadic and familial PSP. No patients had mutations of Park2 or MAPT but there was genetic association for the polymorphism Val380Leu in sporadic and familial PSP. Leu380 is associated with less risk of familial or sporadic PSP.
authors.affiliation: Banco De Tejidos Para Investigaciones Neurológicas, Madrid, Spain.
authors.forename: Raquel
authors.initials: R
authors.lastname: Ros
authors.forename: Israel
authors.initials: I
authors.lastname: Ampuero
authors.forename: Justo
authors.initials: J
authors.lastname: García de Yébenes
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D014633:Valine / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D007930:Leucine; D014633:Valine