Otto and Nikhel

Where on Chromosome is Problem?

The mutation that causes FFI is on the gene PRNP which is found on chromosome 20 from base pair 4615068 to base pair 4630233.

What Is the Problem?

Fatal Familial Insomnia is a very rare inherited brain disease that severely affects sleep and causes progressive deterioration of mental and movement functions. It is almost always caused by a mutation to the protein PrPC, but can also develop spontaneously in patients with a non-inherited mutation variant called sporadic Fatal Insomnia (sFI). FFI has no known cure and involves progressively worsening insomnia, which leads to hallucinations, delirium, and confusional states like that of dementia. The average survival span for patients diagnosed with FFI after the onset of symptoms is 18 months.

What is the Prognosis?

The condition is progressive and death usually occurs about 9 months from onset of symptoms. No cure.

Cite Your Sources