Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
The tau N279K mutation was identified in four separately ascertained families in the United States, Japan, and France and in another recently discovered affected individual in Japan. The authors analyzed genealogical and clinical records and DNA samples. Average age at onset was 43 years; survival time was 7 years. All families exhibited similar clinical features, with parkinsonism, dementia, and supranuclear palsy uniformly seen. A founder effect indicated by a shared disease haplotype was seen only in two Japanese families. The N279K mutation can develop independently in different parts of the world.
Tsuboi
Y
Y
Mayo Clinic, Jacksonville, FL 32224, USA.
Baker
M
M
Hutton
M L
ML
Uitti
R J
RJ
Rascol
O
O
Delisle
M-B
MB
Soulages
X
X
Murrell
J R
JR
Ghetti
B
B
Yasuda
M
M
Komure
O
O
Kuno
S
S
Arima
K
K
Sunohara
N
N
Kobayashi
T
T
Mizuno
Y
Y
Wszolek
Z K
ZK
D000328:Adult; D000978:Antiparkinson Agents / Q000627:therapeutic use; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D003704:Dementia / Q000235:genetics* / Q000503:physiopathology; D018703:Founder Effect; D005602:France; D005625:Frontal Lobe; D006801:Humans; D007564:Japan; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics*; D009410:Nerve Degeneration / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D019683:Penetrance; D013702:Temporal Lobe; D014481:United States; D016875:tau Proteins / Q000235:genetics*
D000978:Antiparkinson Agents; D016875:tau Proteins; D007980:Levodopa; D004247:DNA