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Fatal familial insomnia is an autosomal dominant inherited, non-infectious brain disease. It is caused by prions, similar to Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. The same protein implicated in Creutzfeld-Jakob disease is altered ( asparagine-178 is replaced by aspartic acid), causing amyloid plaques in the thalamus, the region of the brain responsible for sleep. The dysfunction of the thalamus results in insomnia.
The age of onset is variable ranging from 18 to 60. The presentation of the disease varies considerably from person to person, even among patients from within the same family. Common symptoms and signs include:
- intractable insomnia
- dysfunction of the autonomic system - causing hyperthermia, hypertensionIn medicine, hypertension refers to the problem of abnormally high blood pressure. There are three main types of hypertension, namely: # arterial hypertension with an elevated blood pressure in the systemic circulation # pregnancy-induced hypertension is, tachycardiaTachycardia is an abnormally rapid beating of the heart, defined as a resting heart rate of over 100 beats per minute. It can have harmful effects in two ways. First, when the heart beats too rapidly, it performs inefficiently (since there is not enough t, tachypnea and hyperhydrosis
- dementia
- motor paralysis.
As with other prion related diseases, this disease is ultimately fatal and incurable. Hopes rest on the so far unsuccessful gene therapyGene therapy is the insertion of genes into an individual's cells and tissues to treat a disease, and hereditary diseases in particular. Gene therapy typically aims to supplement a defective mutant allele with a functional one. Although the technology is.
NeurologyNeurology is a branch of medicine dealing with disorders of the central and peripheral nervous systems. Surgical operations on the nervous system are done by specialist neurosurgeons. Neurological disorders are disorders of the central nervous system ( br Diseases
Sleep disorders
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