title: Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.
abstract: In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Baba
authors.forename: M C
authors.initials: MC
authors.lastname: Baker
authors.forename: I
authors.initials: I
authors.lastname: Le Ber
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: L
authors.initials: L
authors.lastname: Maeck
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
authors.forename: M
authors.initials: M
authors.lastname: Yasuda
authors.forename: G
authors.initials: G
authors.lastname: Stoppe
authors.forename: O
authors.initials: O
authors.lastname: Bugiani
authors.forename: A D
authors.initials: AD
authors.lastname: Sperfeld
authors.forename: Y
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: R J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: M J
authors.initials: MJ
authors.lastname: Farrer
authors.forename: B
authors.initials: B
authors.lastname: Ghetti
authors.forename: M L
authors.initials: ML
authors.lastname: Hutton
authors.forename: Z K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D000328:Adult; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology; D055815:Young Adult; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins