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Home > Fatal familial insomnia


 

FFI prion

Scientific classification
Prion
Mammalian prion
FFI prion
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:

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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