Fatal familial insomnia

Fatal familial insomnia (FFI) is a very rare, autosomaldominant inherited, diseaseof the brain. It is caused by a mutation in a proteincalled prionprotein (PrP): asparagine-178 is replaced by aspartic acid. The mutation changes the shape of PrP so that it becomes a prion and makes other, normal PrP molecules change to the abnormal shape. This causes amyloid plaquesin the thalamus, the region of the brain responsible for regulation of sleeppatterns. The dysfunction of the thalamus results in insomniafirst of all, which progresses to more serious problems over several years. The age of onset is variable ranging from 30 to 60. Death usually occurs within 3 years of onset. 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, hypertension, tachycardia, tachypneaand hyperhydrosis
• dementia
• motor paralysis.

There are other "prion diseases" with different symptoms, such as Creutzfeldt-Jakob disease(CJD) and new variant CJD (vCJD) in humans, bovine spongiform encephalopathy(BSE) in cows, and chronic wasting diseasein American deerand American elk(in some areas of the Rocky Mountains). FFI, as with other prion related diseases, is ultimately fatal and incurable. Hopes rest on the so far unsuccessful gene therapyand possibly drug development.

Other spongiform encephalopathies

• In humans
  • CJD Creutzfeldt-Jakob disease
  • GSS Gerstmann Sträussler Scheinker syndrome
  • FFI Fatal familial insomnia
  • Kuru
  • Alpers syndrome(hypothesized)

• In other vertebrateanimals
  • BSE Bovine spongiform encephalopathyin cows
  • TME Transmissible mink encephalopathyin mink
  • FSE Feline spongiform encephalopathyin cats

References

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}}. PMID 12849238

External links

• Family battles fatal insomnia
• OMIM600072de:Tödliche familiäre Schlaflosigkeit

es:Insomnio familiar fatal

This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/Fatal+familial+insomnia Wikipedia article Fatal familial insomnia.