This disease is inherited in an autosomal dominant fashion.
Huntington's Disease is caused by a trinucleotide repeat expansion. This repeat expansion in the Huntingtin gene results in a mutant form of protein, which eventually causes damage to certain neurons.
The CAG triplet is the genetic code for glutamine. The CAG expansion causes a repeating glutamine chain that alters the protein. This mutant form of protein causes damage to certain neurons.
The repeat of CAG occurs in chromosome 4.
Anticipation is the genetic term that describes a phenomenon in which the symptoms of a genetic disorder become apparent at earlier ages, as it is passed from one generation to the next. In Huntington's disease, anticipation is thought to occur as the trinucleotide repeat expands, as it is passed from generation to generation.
The caudate is part of the basal ganglia involved in higher-order motor control, learning, memory, and emotions. It is characteristically affected in Huntington's disease.
In Huntington's Disease, the caudate loses the neurotransmitter, acetylcholine.
In Huntington's Disease, the caudate loses the neurotransmitter GABA, an inhibitory neurotransmitter.
Chorea is described as jerky, random uncontrollable movements, and these are often characteristic of Huntington's disease.
Patients often display cognitive dysfunction, including dementia.
Patients often display neuropsychiatric dysfunction, including depression.
Glutamate is an excitatory neurotransmitter that is believed to be involved in the death of nerve cells of people with Huntington's Disease, due to over-excitation, which eventually leads to cell death.
Glutamate binds to NMDA receptors, resulting in over-excitation and eventually cell death.
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