Tau gene mutations: dissecting the pathogenesis of FTDP-17.
Tau is a microtubule-associated protein involved in microtubule assembly and stabilization. Abnormal filamentous tau deposits constitute a major defining characteristic of several neurodegenerative diseases, including Alzheimer's disease. Although the presence of tau pathology correlates with the symptoms of Alzheimer's disease, there was no genetic evidence linking tau to neurodegeneration until recently. However, since 1998, the identification of more than 25 mutations in the tau gene, associated with frontotemporal dementia and parkinsonism linked to chromosome 17, has demonstrated that tau dysfunction can lead to neurodegeneration and the development of clinical symptoms.
Ingram
Esther M
EM
Dept of Neurology and Cambridge Centre for Brain Repair, University of Cambridge, UK.
Spillantini
Maria G
MG
D005838:Genotype; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000235:genetics* / Q000378:metabolism*; D008870:Microtubules / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D010641:Phenotype; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism*
C054369:MAPT protein, human; D008869:Microtubule-Associated Proteins; D016875:tau Proteins