Abstract
The genetics of neurodegenerative diseases has an important role to clarify the pathogenetic mechanism, the diagnosis and finally the therapeutic and ethical implications.
Moreover, the genetic approach to the study of the main clinical forms of dementia (Alzheimer’s disease-AD and Frontotemporal Dementia-FTD) suggests clinical guidelines for helping families to navigate through these complexities. AD and FTD are multifactorial, genetically complex diseases involving many candidate genes.
Mutations in three genes (i.e. Amyloid Precursor Protein, APP; presenilin 1, PSEN1; presenilin 2, PSEN2) have been linked to 50% of all familial forms of AD (FAD).
Genome wide association studies (GWAS) have involved an increasing number of genes with a possible role in the disease pathogenesis. Up to now, the genetics of familial forms of FTD is related to 7 genes: the microtubule-associated protein tau (MAPT) progranulin (GRN), the valosin-containing protein (VCP), chromatin-modifying 2B (CHMP2B), the TARDNA binding protein 43 encoding gene (TARBDP), fused in sarcoma (FUS) and the last hexanucleotide expansion repeats in the open reading frame of chromosome 9 (C9orf72).
Pre-test counseling and the identification of genetic defects are important in both patients and asymptomatic at risk family members.
Keywords: Alzheimer's disease, dementia, frontotemporal dementia, genetics, GWAS, mutation.
Current Molecular Medicine
Title:Genetics of Alzheimer's Disease and Frontotemporal Dementia
Volume: 14 Issue: 8
Author(s): B. Nacmias, I. Piaceri, S. Bagnoli, A. Tedde, S. Piacentini and S. Sorbi
Affiliation:
Keywords: Alzheimer's disease, dementia, frontotemporal dementia, genetics, GWAS, mutation.
Abstract: The genetics of neurodegenerative diseases has an important role to clarify the pathogenetic mechanism, the diagnosis and finally the therapeutic and ethical implications.
Moreover, the genetic approach to the study of the main clinical forms of dementia (Alzheimer’s disease-AD and Frontotemporal Dementia-FTD) suggests clinical guidelines for helping families to navigate through these complexities. AD and FTD are multifactorial, genetically complex diseases involving many candidate genes.
Mutations in three genes (i.e. Amyloid Precursor Protein, APP; presenilin 1, PSEN1; presenilin 2, PSEN2) have been linked to 50% of all familial forms of AD (FAD).
Genome wide association studies (GWAS) have involved an increasing number of genes with a possible role in the disease pathogenesis. Up to now, the genetics of familial forms of FTD is related to 7 genes: the microtubule-associated protein tau (MAPT) progranulin (GRN), the valosin-containing protein (VCP), chromatin-modifying 2B (CHMP2B), the TARDNA binding protein 43 encoding gene (TARBDP), fused in sarcoma (FUS) and the last hexanucleotide expansion repeats in the open reading frame of chromosome 9 (C9orf72).
Pre-test counseling and the identification of genetic defects are important in both patients and asymptomatic at risk family members.
Export Options
About this article
Cite this article as:
Nacmias B., Piaceri I., Bagnoli S., Tedde A., Piacentini S. and Sorbi S., Genetics of Alzheimer's Disease and Frontotemporal Dementia, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010152143
DOI https://dx.doi.org/10.2174/1566524014666141010152143 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
![](/images/wayfinder.jpg)
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
DNA and RNA Code-reading Molecules as Potential Gene Silencers in Neurobiology- What are They and what are They Good for?
Current Medicinal Chemistry - Central Nervous System Agents Brain Magnetic Stimulation in Animal Models: A Valuable Lesson for Clinical Applications
CNS & Neurological Disorders - Drug Targets Periodontal Pathogens and Neuropsychiatric Health
Current Topics in Medicinal Chemistry Pharmacotherapy of Sickle Cell Disease in Children
Current Pharmaceutical Design Chinese Herbs and Herbal Extracts for Neuroprotection of Dopaminergic Neurons and Potential Therapeutic Treatment of Parkinson’s Disease
CNS & Neurological Disorders - Drug Targets Possible Hypoxia Signaling Induced Alteration of Glucose Homeostasis in Rats Exposed to Chronic Intermittent Hypoxia - Role of Antioxidant (Vitamin C) and Ca2+ Channel Blocker (Cilnidipine)
Current Signal Transduction Therapy Alzheimer’s Disease Amyloid Peptides Interact with DNA, As Proved by Surface Plasmon Resonance
Current Alzheimer Research Applications of Nanotechnology in Diagnostics and Therapeutics of Alzheimer’s and Parkinson’s Disease
Current Drug Metabolism Biological Basis of Ageing, Age-related Diseases and Interventions
Current Pharmacogenomics and Personalized Medicine Tacrine Derivatives and Alzheimers Disease
Current Medicinal Chemistry Flavonoids Health Benefits and Their Molecular Mechanism
Mini-Reviews in Medicinal Chemistry Systemic Oxidative Stress in Older Patients with Mild Cognitive Impairment or Late Onset Alzheimer's Disease
Current Alzheimer Research Monoamine Oxidase-B (MAO-B) Inhibitors in the Treatment of Alzheimer’s and Parkinson’s Disease
Current Medicinal Chemistry Selecting Good ‘Drug-Like’ Properties to Optimize Small Molecule Blood-Brain Barrier Penetration
Current Medicinal Chemistry Cognition in Non-Demented Diabetic Older Adults
Current Aging Science Ceruloplasmin, the Unique Multi-Copper Oxidase of Vertebrates
Protein & Peptide Letters Protective Effect of Aspirin Against Oligomeric Aβ42 Induced Mitochondrial Alterations and Neurotoxicity in Differentiated EC P19 Neuronal Cells
Current Alzheimer Research Direct Production of Reactive Oxygen Species from Aggregating Proteins and Peptides Implicated in the Pathogenesis of Neurodegenerative Diseases
Current Medicinal Chemistry - Immunology, Endocrine & Metabolic Agents An Antioxidant Role by Minocycline Via Enhancing the Activation of LKB1/AMPK Signaling in the Process of Cerebral Ischemia Injury
Current Molecular Medicine Mechanisms of ERK1/2 Regulation by Seven-Transmembrane-Domain Receptors
Current Pharmaceutical Design