Glossary

Autosomal dominant

Method of inheritance; only one copy of the mutant gene is required for the disease phenotype.
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Basal Ganglia

Sub-cortical structure made up of the caudate nucleus, putamen, globus pallidus and subthalamic nuclei. Exerts inhibitory affects on the thalamus.
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BDNF

Brain derived neurotrophic factor. A growth factor that promotes survival of neurons and synapses.
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Chorea

A form of abnormal, involuntary movement. Seem to flow from one muscle to the next.
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Chromatin

The DNA, RNA and associated proteins that make up chromosomes. Found within the nucleus.
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Dopamine

A neurotransmitter produced in the substantia nigra and ventral tegmental area (VTA). It acts on five dopamine receptors, D1-D5.
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Dyskinesia

A movement disorder characterised by involuntary, jerky movements.
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Dystonia

A movement disorder; continuous muscle contraction causes twisting and repetitive movements or abnormal posture.
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GABA

Stands for Gamma-aminobutyric acid, which is the major inhibitory neurotransmitter of the human central nervous system. Regulates neuronal excitability and muscle tone. GABA receptors can either be ion channels themselves- GABAA and GABAC act here, or metabotropic G-protein coupled receptors,...
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Glutamate

The major excitatory neurotransmitter of the human CNS. Acts at NMDA receptors, AMPA receptors and kainate receptors, as well as the metabotropic mGluR receptor. Plays a key role in memory and learning.
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Histones

The main protein component of chromatin. DNA winds round the histone regulating gene transcription. Come in both core and linker histone forms.
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Huntingtin Gene

Found on IT15 on chromosome 4. The mutated protein has an abnormal number of CAG repeats.
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Huntingtin protein

Encoded by the Huntingtin gene. Normally involved in cell signaling and transport; the mutant copy found in HD has an abnormal number of PolyQ repeats corresponding to the CAG expansion in the gene.
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Hyperkinesia

A movement disorder resulting in increased muscle activity and therefore movement.
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Lentiform nucleus

Comprises of the putamen and globus pallidus of the basal ganglia.
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Neurodegeneration

The loss or death of neurons and associated structures and functions.
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RNA interference

A method of inhibiting gene expression by preventing translation or transcription occurring. Often uses RNA from viruses or transponsons.
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Seizure

Excessive electrical activity in the brain, can last for a few seconds or can be continuous meaning drugs are required to stop it. Associated with involuntary contraction of certain muscles and loss of consciousness. Seizures normally result in short-term memory loss.
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SMA

Stands for Supplementary motor area. A part of the sensorimotor cortex.
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Stem cell

Hold a unique self-renewal ability as well as being able to differentiate into a wide range of cell types. Can be either embryonic or adult.
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Striatum

Part of the telencephalon, corresponds to the caudate nucleus and putamen.
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Substantia nigra

Located in the mesencephalon, plays a role in reward, addiction and movement. One of the main sets of dopaminergic neurons in the brain.
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Thalamus

The main part of the diencephalon. Has many functions including sleeping and waking cycles, motor control, emotions and memory.
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