Abstract
The genetics community working on Alzheimer's disease and related dementias has made remarkable progress in the past 20 years. The cumulative efforts by multiple groups have lead to the identification of three autosomal dominant genes for early onset AD. These are the amyloid-beta protein precursor gene (APP), and the genes encoding presenilin1 and 2. The knowledge derived from this work has firmly established Abeta as a critical disease molecule and lead to candidate drugs currently in treatment trials. Work on a related disease, frontotemporal dementia with parkinsonism - chromosome 17 type has also added to our understanding of pathogenesis by revealing that tau, the protein component of neurofibrillary tangles, is also a critical molecule in neurodegeneration. Lessons learned that still influence work on human genetics include the need to recognize and deal with genetic heterogeneity, a feature common to many genetic disorders. Genetic heterogeneity, if recognized, can be source of information. Another critical lesson is that clinical, molecular, and statistical scientists need to work closely on disease projects to succeed in solving the complex problems of common genetic disorders.
Keywords
DiseaseNeurodegenerationFrontotemporal dementiaParkinsonismMolecular geneticsDementiaBiologyGeneticsNeuroscienceHuman geneticsGeneBioinformaticsMedicinePathology
Related Publications
Tau is a candidate gene for chromosome 17 frontotemporal dementia
Abstract Frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP‐17), a recently defined disease entity, is clinically characterized by personality changes sometimes...
Neuropathology of synuclein aggregates
Beginning with the isolation of the fragment of alpha-synuclein (alpha-syn) known as the non-Abeta component of amyloid plaques (NAC peptide) from Alzheimer's disease (AD) brain...
Clinical and Pathological Aspects of Parkinsonism in Alzheimer's Disease
To examine the natural history and pathogenesis of parkinsonism in Alzheimer's disease, 44 subjects with clearly established senile dementia of the Alzheimer type were studied d...
Defining Molecular Targets to Prevent Alzheimer Disease
An explosion of new techniques to explore DNA and protein biology during the last 2 decades has illuminated one of the most enigmatic and intractable subjects in biomedicine—neu...
Age-Dependent Neurofibrillary Tangle Formation, Neuron Loss, and Memory Impairment in a Mouse Model of Human Tauopathy (P301L)
Here, we describe the generation of a novel transgenic mouse model of human tauopathy. The rTg(tau P301L )4510 mouse expresses the P301L mutation in tau (4R0N) associated with f...
Publication Info
- Year
- 2006
- Type
- article
- Volume
- 9
- Issue
- s3
- Pages
- 367-372
- Citations
- 6
- Access
- Closed
External Links
Social Impact
Altmetric
PlumX Metrics
Social media, news, blog, policy document mentions
Citation Metrics
6
OpenAlex
Cite This
Gerard D. Schellenberg
(2006).
Early Alzheimer's disease genetics.
Journal of Alzheimer s Disease
, 9
(s3)
, 367-372.
https://doi.org/10.3233/jad-2006-9s341
Identifiers
- DOI
- 10.3233/jad-2006-9s341