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Genetics: Huntington's Disease
Pages 4 (1004 words)
Huntington’s disease is a hereditary disorder affecting the central nervous system. It usually presents with abnormal movements, psychiatric symptoms, and cognitive dysfunction. It is a rare disease that manifests only in 5-10 individuals in every 100,000 Caucasians, with much lower prevalence among Asian and other populations…
Patients with Huntington’s disease also develop dementia, manifesting as the inability to plan or organize. Patients develop poor judgment and impaired memory, with drastic effects on other psychomotor processes. In animal studies, mice with mutated Huntington’s disease gene are found to have excitatory synapses that cannot sustain transmission during repeated stimulation. This causes defects in synaptic plasticity, which is theorized to play a role in memory. The diagnosis of Huntington disease is usually straightforward in a patient presenting with the motor, behavioral and psychiatric signs, with a family history of a parent with the disease. A thorough family medical history must be done if the history of the disease is not elicited immediately. For testing, the current gold standard is DNA determination, which would show a CAG-repeat of 36 or more on the huntingtin gene on the chromosome. Before doing a DNA test, the patient must be counseled.
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