Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.
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.
Baba
Y
Y
Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA.
Baker
M C
MC
Le Ber
I
I
Brice
A
A
Maeck
L
L
Kohlhase
J
J
Yasuda
M
M
Stoppe
G
G
Bugiani
O
O
Sperfeld
A D
AD
Tsuboi
Y
Y
Uitti
R J
RJ
Farrer
M J
MJ
Ghetti
B
B
Hutton
M L
ML
Wszolek
Z K
ZK
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*
D016875:tau Proteins