Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System Tauopathy with Presenile Dementia (MSTD).
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.
Spillantini
Maria Grazia
MG
Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Robinson Way, Cambridge CB2 2PY, UK. mgs11@cam.ac.uk
Murrell
Jill R
JR
Goedert
Michel
M
Farlow
Martin
M
Klug
Aaron
A
Ghetti
Bernardino
B
D000544:Alzheimer Disease / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D024801:Tauopathies / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D016875:tau Proteins / Q000235:genetics*
C054369:MAPT protein, human; D008869:Microtubule-Associated Proteins; D009419:Nerve Tissue Proteins; D016875:tau Proteins