title: A family with a tau P301L mutation presenting with parkinsonism.
abstract: We report a sib-pair with a tau P301L mutation. Unlike most previous cases with this mutation, parkinsonism, rather than dementing features were the predominant and presenting feature. We have also observed that the P301L mutation has occurred on the H1 tau haplotype background. The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2.
authors.affiliation: Department of Neurology, Bronx VA Medical Center, NY 10468, USA.
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.forename: Joseph
authors.initials: J
authors.lastname: Friedman
authors.forename: Jill
authors.initials: J
authors.lastname: Wiener
authors.forename: Ronald
authors.initials: R
authors.lastname: Hobler
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Amanda
authors.initials: A
authors.lastname: Adam
authors.forename: Jennifer
authors.initials: J
authors.lastname: DeWolfe
authors.forename: Rebecca
authors.initials: R
authors.lastname: Gibbs
authors.forename: Matt
authors.initials: M
authors.lastname: Baker
authors.forename: Matt
authors.initials: M
authors.lastname: Farrer
authors.forename: Mike
authors.initials: M
authors.lastname: Hutton
authors.forename: John
authors.initials: J
authors.lastname: Hardy
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins