Genetics and molecular biology of Alzheimer's disease and frontotemporal lobar degeneration

Research output: Contribution to journalArticle

Abstract

Alzheimer's disease (AD) is the most common cause of dementia in the elderly, whereas frontotemporal lobar degeneration (FTLD) is the most frequent neurodegenerative disorder with a pre-senile onset. The two major neuropathological hallmarks of AD are extracellular amyloid beta plaques and intracellular neurofibrillary tangles. In FTLD the deposition of tau has been observed in a number of cases, but in several brains there is no deposition of tau but instead a positivity for ubiquitin. In some families these diseases are inherited in an autosomal dominant fashion. Genes responsible for familial AD include the amyloid precursor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2), whereas the main genes responsible for familial FTLD are microtubule-associated protein tau gene (MAPT) and progranulin (GRN). Concerning sporadic AD, it is known that the presence of the ε4 allele of the apolipoprotein E gene is a susceptibility factor. A number of additional genetic factors contribute to susceptibility for AD and FTLD.

Original languageEnglish
Pages (from-to)12-16
Number of pages5
JournalEuropean Neurological Review
Volume5
Issue number1
Publication statusPublished - 2010

Fingerprint

Frontotemporal Lobar Degeneration
Molecular Biology
Alzheimer Disease
Genes
Presenilin-2
Presenilin-1
Apolipoprotein E4
Neurofibrillary Tangles
Microtubule-Associated Proteins
Amyloid beta-Protein Precursor
Amyloid Plaques
Ubiquitin
Neurodegenerative Diseases
Dementia
Alleles
Brain

Keywords

  • Alzheimer's disease
  • Amyloid
  • Frontotemporal lobar degeneration
  • Genetics
  • Inflammation
  • Mutation
  • Oxidative damage
  • Tau
  • TDP-43

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

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abstract = "Alzheimer's disease (AD) is the most common cause of dementia in the elderly, whereas frontotemporal lobar degeneration (FTLD) is the most frequent neurodegenerative disorder with a pre-senile onset. The two major neuropathological hallmarks of AD are extracellular amyloid beta plaques and intracellular neurofibrillary tangles. In FTLD the deposition of tau has been observed in a number of cases, but in several brains there is no deposition of tau but instead a positivity for ubiquitin. In some families these diseases are inherited in an autosomal dominant fashion. Genes responsible for familial AD include the amyloid precursor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2), whereas the main genes responsible for familial FTLD are microtubule-associated protein tau gene (MAPT) and progranulin (GRN). Concerning sporadic AD, it is known that the presence of the ε4 allele of the apolipoprotein E gene is a susceptibility factor. A number of additional genetic factors contribute to susceptibility for AD and FTLD.",
keywords = "Alzheimer's disease, Amyloid, Frontotemporal lobar degeneration, Genetics, Inflammation, Mutation, Oxidative damage, Tau, TDP-43",
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