A family with a tau P301L mutation presenting with parkinsonism.
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.
Walker
Ruth H
RH
Department of Neurology, Bronx VA Medical Center, NY 10468, USA.
Friedman
Joseph
J
Wiener
Jill
J
Hobler
Ronald
R
Gwinn-Hardy
Katrina
K
Adam
Amanda
A
DeWolfe
Jennifer
J
Gibbs
Rebecca
R
Baker
Matt
M
Farrer
Matt
M
Hutton
Mike
M
Hardy
John
J
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*
D016875:tau Proteins