Scientists Find Cause Of Deadly Insomnia Music Director’s Death Provided Clues To The Inherited Disease

At first, doctors thought the 41-year-old high school music director had multiple sclerosis because of his episodes of numbness, weakness and blurred vision.

But treatment did not help, and within a year he got worse: He needed a cane to walk, and he had plunged into depression. He was forgetful at school and had trouble concentrating, and he asked where his grandmother was even though she had been dead for 15 years.

He also had trouble sleeping at night. And that was the key.

Genetic testing showed that the man had an extraordinarily rare, inherited disease that causes what one scientist calls “industrial-strength” insomnia for months or even a year before the patient dies.

The music director died 15 months after his first symptoms appeared. Researchers found he was distantly related to a previously reported family with the disease.

By injecting brain tissue from the man into mice, scientists confirmed the idea that the disease, called fatal familial insomnia, belongs to a small group of neurological disorders caused by an abnormal protein called a prion.

Fewer than 10 families in the world are known to have the inherited insomnia, said Dr. Paul Brown of the National Institute of Neurological Disorders and Stroke in Bethesda, Md.