PMID- 16914875
OWN - NLM
STAT- MEDLINE
DCOM- 20061019
LR  - 20220129
IS  - 1387-2877 (Print)
IS  - 1387-2877 (Linking)
VI  - 9
IP  - 3 Suppl
DP  - 2006
TI  - Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System 
      Tauopathy with Presenile Dementia (MSTD).
PG  - 373-80
AB  - Work in 1980s and early 1990s established that the microtubule-associated protein 
      tau is the major component of the paired helical filament of Alzheimer's disease. 
      Similar filamentous deposits are also present in a number of other diseases, 
      including progressive supranuclear palsy, corticobasal degeneration and Pick's 
      disease. In 1998, the relevance of tau dysfunction for the neurodegenerative 
      process became clear, when mutations in the tau gene were found to cause the 
      inherited "frontotemporal dementia and parkinsonism linked to chromosome 17 
      (FTDP-17)". The paper highlighted here [Spillantini M.G., Murrell J.R., Goedert 
      M., Farlow M., Klug A. and Ghetti B. (1998) Mutation in the tau gene in familial 
      multiple system tauopathy with presenile dementia. Proc. Natl. Acad. Sci. USA 95, 
      7737-7741] reported a mutation at position + 3 in the intron following 
      alternatively spliced exon 10 of the tau gene in a family.
FAU - Spillantini, Maria Grazia
AU  - Spillantini MG
AD  - Centre for Brain Repair, Department of Clinical Neurosciences, University of 
      Cambridge, Robinson Way, Cambridge CB2 2PY, UK. mgs11@cam.ac.uk
FAU - Murrell, Jill R
AU  - Murrell JR
FAU - Goedert, Michel
AU  - Goedert M
FAU - Farlow, Martin
AU  - Farlow M
FAU - Klug, Aaron
AU  - Klug A
FAU - Ghetti, Bernardino
AU  - Ghetti B
LA  - eng
GR  - MC_U105184291/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PL  - Netherlands
TA  - J Alzheimers Dis
JT  - Journal of Alzheimer's disease : JAD
JID - 9814863
RN  - 0 (MAPT protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (tau Proteins)
SB  - IM
MH  - Alzheimer Disease/*complications/*genetics/pathology
MH  - Brain/pathology
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Humans
MH  - Microtubule-Associated Proteins/*genetics
MH  - Nerve Tissue Proteins/*genetics
MH  - Parkinsonian Disorders/genetics/pathology
MH  - Point Mutation/*genetics
MH  - Tauopathies/*complications/*genetics/pathology
MH  - tau Proteins/*genetics
EDAT- 2006/08/18 09:00
MHDA- 2006/10/20 09:00
CRDT- 2006/08/18 09:00
PHST- 2006/08/18 09:00 [pubmed]
PHST- 2006/10/20 09:00 [medline]
PHST- 2006/08/18 09:00 [entrez]
AID - 10.3233/jad-2006-9s342 [doi]
PST - ppublish
SO  - J Alzheimers Dis. 2006;9(3 Suppl):373-80. doi: 10.3233/jad-2006-9s342.