Abstract
This chapter describes the various aspects of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) associated with mutations in the microtubule-associated protein tau (MAPT) gene. The main sections are devoted to the clinical, neuropathological, biochemical and molecular genetic characteristics of this disorder. The clinical phenotypes may vary in presentation and age at onset. A table is shown indicating the predominant symptomatology associated with the mutations. The neuropathological changes associated with each mutation are described in detail. The mechanisms associated with tau phosphorylation and tau filament formation as well as pathogenetic mechanisms associated with intronic and exonic mutations are explained.
| Original language | English (US) |
|---|---|
| Title of host publication | Neurodegeneration |
| Subtitle of host publication | The Molecular Pathology of Dementia and Movement Disorders: Second Edition |
| Publisher | Wiley-Blackwell |
| Pages | 110-134 |
| Number of pages | 25 |
| ISBN (Print) | 9781405196932 |
| DOIs | |
| State | Published - Sep 21 2011 |
Keywords
- Alternative mRNA splicing
- Coiled body
- Frontotemporal dementia
- MAPT
- Neurofibrillary tangle
- Pick's disease
- Tau filament
- Tau protein
- Tufted astrocyte
ASJC Scopus subject areas
- Medicine(all)