What is fatal familial insomnia?

What is fatal familial insomnia?

Fatal familial insomnia is caused by a prion version of the PrP protein — a protein found throughout our bodies, though its functions aren’t well understood. The disease most often arises due to two genetic mutations to the PRNP gene, but cases of FFI can occur in those without the mutations as well.

Is fatal familial insomnia a prion disease?

We now know that Fatal Familial Insomnia is a prion disease. The term prionwas coined by Stanley Prusiner in the 1980s as the name for an infectious agent. Specifically, a prion is a mis-folded protein that permanently affects the structure of the brain.

What is the book The family that couldn’t sleep about?

The Family That Couldn’t Sleep by D T Max details the history of Fatal Familial Insomnia and prion disease. It reads like a detective story with alarming twists and turns, including just how close the population of Britain came to suffering a major epidemic of CJD.

What is FFI and how does it affect your sleep?

The hallmark of FFI is contained in the name. What starts as difficulty sleeping gradually progresses to a complete inability to fall asleep. Sleeping medications don’t seem to help much — even with a pharmaceutical push, the brain cannot cross the threshold into sleep. Silvano’s pronouncement turned out to be true; he was soon dead.

Fatal familial insomnia (FFI) is a very rare form of genetic prion disease. In almost every case it is caused by a very specific mutation in the PRNP gene.

How is fatal familial insomnia (FFI) diagnosed?

The diagnosis of fatal familial insomnia (FFI) is first suggested by rapidly progressive cognitive impairment ( dementia) along with behavior or mood changes, ataxia and sleep disturbances.

How is fatal insomnia treated and managed?

Enhancing Healthcare Team Outcomes Fatal familial insomnia is best managed by an interprofessional team, including sleep specialists, neurologists, psychiatrists and psychologists, social workers, palliative nurses, and hospice care. This disorder has no cure and is managed by first making the patient comfortable and improving the quality of life.

What are the signs and symptoms of familial familial insomnia?

While the main symptom is insomnia, FFI can also cause a range of other symptoms, such as speech problems and dementia. There’s an even rarer variant called sporadic fatal insomnia.