In the 1980s, linkage emerged as a route to discovering genetic defects, spurring the rise of genomics and making gene-based approaches available to previously phenotype-orientated researchers. In the post-genomics era, genetics is fundamental to understanding disease at all stages of the pathogenic process.
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The author's work on HD is supported by the Huntington's Disease Society of America's Coalition for the Cure, the Hereditary Disease Foundation and by the National Institutes of Health.
- AMYLOID PLAQUE
Specific structures made up of insoluble, relatively inert fibres of protein in β-sheet conformation.
- BASAL GANGLIA
Clusters of neurons located deep in the brain that relay messages between the most anterior part of the cortex that is involved in problem solving and complex thought, and the lower motor and sensory areas; includes the striatum.
- CAUDATE NUCLEUS
Part of the basal ganglia that bulges into the lateral ventricle and forms part of the striatum.
- CEREBRAL CORTEX
Superficial layer of grey matter that is involved in higher functions, including initiation of voluntary movements, cognition and emotion.
Ceaseless, involuntary, jerking movements of the body, face, or extremities.
One form of a protein that can exist in different conformations.
Toxicity to electrically excitable cells due to excessive electrical stimulation.
- GABAERGIC PROJECTION NEURON
A neuron that uses γ-aminobutyric acid (GABA), a principal neurotransmitter, and sends axons to other brain regions.
- NEUROFIBRILLARY TANGLE
Abnormal intracellular accumulation of a microtubule-associated protein called tau, characteristic of Alzheimer disease.
- REACTIVE GLIOSIS
Appearance of activated glial cells in regions of brain injury.
- STRIATAL NEURONS
Neurons that lie in the striatum — an area of the brain involved in fine movements, emotion and cognition.
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Gusella, J., MacDonald, M. No post-genetics era in human disease research. Nat Rev Genet 3, 72–79 (2002). https://doi.org/10.1038/nrg706
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