PMID- 11193178
OWN - NLM
STAT- MEDLINE
DCOM- 20010208
LR  - 20190616
IS  - 0077-8923 (Print)
IS  - 0077-8923 (Linking)
VI  - 920
DP  - 2000
TI  - Molecular genetics of chromosome 17 tauopathies.
PG  - 63-73
AB  - The identification of mutations in the gene encoding the microtubule associated 
      protein tau in frontotemporal dementia and parkinsonism linked to chromosome 17 
      (FTDP-17) demonstrated that tau dysfunction can lead to neurodegeneration. At 
      least 11 missense mutations and 1 deletion mutation (delta K280) have been 
      identified in exons 9-13 that encode the microtubule binding domains of tau. In 
      addition, five mutations have been found close to the 5' splice site of exon 10. 
      The different FTDP-17 mutations have multiple effects on the biology and function 
      of tau. These varied pathogenic mechanisms likely explain the wide range of 
      clinical and neuropathological features observed in different families with 
      FTDP-17. In addition to the highly penetrant mutations that are found in large 
      families with FTDP-17, a common extended haplotype in the tau gene also appears 
      to be a risk factor in the development of the apparently sporadic tauopathy, 
      progressive supranuclear palsy (PSP). The mechanism by which this common 
      variability in the tau gene influences the development of PSP is unclear; 
      however, it further suggests a central role for tau in the pathogenesis of 
      several neurodegenerative conditions including Alzheimer's disease (AD).
FAU - Hutton, M
AU  - Hutton M
AD  - Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA. 
      hutton.michael@mayo.edu
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Ann N Y Acad Sci
JT  - Annals of the New York Academy of Sciences
JID - 7506858
RN  - 0 (tau Proteins)
SB  - IM
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 17
MH  - Dementia/*genetics
MH  - Exons
MH  - Humans
MH  - *Mutation
MH  - Mutation, Missense
MH  - Parkinson Disease/*genetics
MH  - Polymorphism, Genetic
MH  - Supranuclear Palsy, Progressive/*genetics
MH  - tau Proteins/*genetics
RF  - 37
EDAT- 2001/02/24 12:00
MHDA- 2001/03/03 10:01
CRDT- 2001/02/24 12:00
PHST- 2001/02/24 12:00 [pubmed]
PHST- 2001/03/03 10:01 [medline]
PHST- 2001/02/24 12:00 [entrez]
AID - 10.1111/j.1749-6632.2000.tb06906.x [doi]
PST - ppublish
SO  - Ann N Y Acad Sci. 2000;920:63-73. doi: 10.1111/j.1749-6632.2000.tb06906.x.