Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17

Bernardino Ghetti, Zbigniew K. Wszolek, Bradley F. Boeve, Salvatore Spina, Michel Goedert

Research output: Chapter in Book/Report/Conference proceedingChapter

29 Scopus citations

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 languageEnglish (US)
Title of host publicationNeurodegeneration
Subtitle of host publicationThe Molecular Pathology of Dementia and Movement Disorders: Second Edition
PublisherWiley-Blackwell
Pages110-134
Number of pages25
ISBN (Print)9781405196932
DOIs
StatePublished - 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)

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    Ghetti, B., Wszolek, Z. K., Boeve, B. F., Spina, S., & Goedert, M. (2011). Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17. In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition (pp. 110-134). Wiley-Blackwell. https://doi.org/10.1002/9781444341256.ch14