title: The effect of tau genotype on clinical features in FTDP-17.
abstract: The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17.
authors.affiliation: Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Baba
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Baker
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: Michael L
authors.initials: ML
authors.lastname: Hutton
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Dickson
authors.forename: Matthew
authors.initials: M
authors.lastname: Farrer
authors.forename: John D
authors.initials: JD
authors.lastname: Putzke
authors.forename: Bryan K
authors.initials: BK
authors.lastname: Woodruff
authors.forename: Bernardino
authors.initials: B
authors.lastname: Ghetti
authors.forename: Jill R
authors.initials: JR
authors.lastname: Murrell
authors.forename: Bradley F
authors.initials: BF
authors.lastname: Boeve
authors.forename: Ronald C
authors.initials: RC
authors.lastname: Petersen
authors.forename: Patrice
authors.initials: P
authors.lastname: Verpillat
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Marie-Bernadette
authors.initials: MB
authors.lastname: Delisle
authors.forename: Oliver
authors.initials: O
authors.lastname: Rascol
authors.forename: Kunimasa
authors.initials: K
authors.lastname: Arima
authors.forename: Maurice W
authors.initials: MW
authors.lastname: Dysken
authors.forename: Minoru
authors.initials: M
authors.lastname: Yasuda
authors.forename: Tomonori
authors.initials: T
authors.lastname: Kobayashi
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Sunohara
authors.forename: Osamu
authors.initials: O
authors.lastname: Komure
authors.forename: Sadako
authors.initials: S
authors.lastname: Kuno
authors.forename: Anne D
authors.initials: AD
authors.lastname: Sperfeld
authors.forename: Gabriela
authors.initials: G
authors.lastname: Stoppe
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Stuart
authors.initials: S
authors.lastname: Pickering-Brown
authors.forename: David
authors.initials: D
authors.lastname: Neary
authors.forename: Orso
authors.initials: O
authors.lastname: Bugiani
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D000328:Adult; D017668:Age of Onset; D003704:Dementia / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics*; D010641:Phenotype; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D008869:Microtubule-Associated Proteins; D016875:tau Proteins