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The area of the brain most damaged in early Huntington's disease is the dorsal striatum made up of the caudate nucleus and the putamen. Initially, damage to the brain is regionally specific with the dorsal striatum in the subcortical basal ganglia being primarily affected, followed later by cortical involvement in all areas.
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
The CBGTC loop has been implicated in many diseases. For example, in Parkinson's disease, degeneration of dopaminergic neurons leading to decreased activity of the excitatory pathway is thought to result in hypokinesia, [15] and in Huntington's disease, degeneration of GABAergic neurons driving the inhibitory pathway is thought to result in the jerky body movements. [2]
Huntington's disease stems from a defect that consists of an expanded CAG repeat in the huntingtin gene (HTT) located on the short arm p of chromosome 4. [7] Evidence shows that the basal ganglia in patients with Huntington's disease show a decrease in activity of the mitochondrial pathway , complex II-III.
Huntington's disease is a degenerative neurological disorder that is inherited. Degeneration of neuronal cells occurs throughout the brain, especially in the striatum. There is a progressive decline that results in abnormal movements. [31] Statistics show that Huntington's disease may affect 10 per 100,000 people of Western European descent.
For example, Huntington's disease is an inherited disease characterized by progressive neurodegeneration. [3] Huntington's disease results from a mutation in either copy of the HTT gene, which results in an abnormally folded protein. [4] The accumulation of mutated proteins results in brain damage of the basal ganglia. [4]
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Huntington's disease (HD) is an inherited progressive disorder of the brain that leads to uncontrolled movements, emotional instability, and loss of intellectual faculties. [19] Because of the inheritability of Huntington's each child born to a parent with Huntington's has a 50% chance of inheriting the disease, leading to a prevalence of ...
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