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

25 Citations (Scopus)

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: The Molecular Pathology of Dementia and Movement Disorders: Second Edition
PublisherWiley-Blackwell
Pages110-134
Number of pages25
ISBN (Print)9781405196932
DOIs
StatePublished - Sep 21 2011

Fingerprint

Frontotemporal Dementia
Chromosomes, Human, Pair 17
Parkinsonian Disorders
Mutation
Molecular Biology
Inborn Genetic Diseases
Microtubule-Associated Proteins
Age of Onset
Phosphorylation
Phenotype
Genes

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)

Cite this

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

Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17. / Ghetti, Bernardino; Wszolek, Zbigniew K; Boeve, Bradley F; Spina, Salvatore; Goedert, Michel.

Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition. Wiley-Blackwell, 2011. p. 110-134.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ghetti, B, Wszolek, ZK, Boeve, BF, 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. Wiley-Blackwell, pp. 110-134. https://doi.org/10.1002/9781444341256.ch14
Ghetti B, Wszolek ZK, Boeve BF, Spina S, Goedert M. Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17. In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition. Wiley-Blackwell. 2011. p. 110-134 https://doi.org/10.1002/9781444341256.ch14
Ghetti, Bernardino ; Wszolek, Zbigniew K ; Boeve, Bradley F ; Spina, Salvatore ; Goedert, Michel. / Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17. Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition. Wiley-Blackwell, 2011. pp. 110-134
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