A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
We detected a missense mutation in exon 10 of tau that causes a substitution at codon 279 (N279K) in a Japanese patient with a familial background of parkinsonism and dementia originally described as pallido-nigro-luysian degeneration. This mutation is the same as one seen in a Caucasian family with pallido-ponto-nigral degeneration. The similarities between these two families suggest a common genetic mechanism that may account for the peculiar distribution of neuroglial degeneration with tauopathy.
Yasuda
M
M
Hyogo Institute for Aging Brain and Cognitive Disorders, Himeji, Japan.
Kawamata
T
T
Komure
O
O
Kuno
S
S
D'Souza
I
I
Poorkaj
P
P
Kawai
J
J
Tanimukai
S
S
Yamamoto
Y
Y
Hasegawa
H
H
Sasahara
M
M
Hazama
F
F
Schellenberg
G D
GD
Tanaka
C
C
D000595:Amino Acid Sequence; D001483:Base Sequence; D005917:Globus Pallidus; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009410:Nerve Degeneration / Q000235:genetics*; D010375:Pedigree; D011149:Pons; D013378:Substantia Nigra; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins