PMID- 10489057
OWN - NLM
STAT- MEDLINE
DCOM- 19991029
LR  - 20190514
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 53
IP  - 4
DP  - 1999 Sep 11
TI  - A mutation in the microtubule-associated protein tau in pallido-nigro-luysian
      degeneration.
PG  - 864-8
AB  - 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.
FAU - Yasuda, M
AU  - Yasuda M
AD  - Hyogo Institute for Aging Brain and Cognitive Disorders, Himeji, Japan.
FAU - Kawamata, T
AU  - Kawamata T
FAU - Komure, O
AU  - Komure O
FAU - Kuno, S
AU  - Kuno S
FAU - D'Souza, I
AU  - D'Souza I
FAU - Poorkaj, P
AU  - Poorkaj P
FAU - Kawai, J
AU  - Kawai J
FAU - Tanimukai, S
AU  - Tanimukai S
FAU - Yamamoto, Y
AU  - Yamamoto Y
FAU - Hasegawa, H
AU  - Hasegawa H
FAU - Sasahara, M
AU  - Sasahara M
FAU - Hazama, F
AU  - Hazama F
FAU - Schellenberg, G D
AU  - Schellenberg GD
FAU - Tanaka, C
AU  - Tanaka C
LA  - eng
GR  - AG1176-03/AG/NIA NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (tau Proteins)
SB  - IM
CIN - Neurology. 2000 May 23;54(10):2028-30. PMID: 10822460
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - *Globus Pallidus
MH  - Molecular Sequence Data
MH  - Mutation/genetics
MH  - Nerve Degeneration/*genetics
MH  - Pedigree
MH  - *Pons
MH  - *Substantia Nigra
MH  - tau Proteins/*genetics
EDAT- 1999/09/17 00:00
MHDA- 1999/09/17 00:01
CRDT- 1999/09/17 00:00
PHST- 1999/09/17 00:00 [pubmed]
PHST- 1999/09/17 00:01 [medline]
PHST- 1999/09/17 00:00 [entrez]
AID - 10.1212/wnl.53.4.864 [doi]
PST - ppublish
SO  - Neurology. 1999 Sep 11;53(4):864-8. doi: 10.1212/wnl.53.4.864.