- NEW YORK - A non-inherited form of a rare, fatal insomnia
syndrome has joined the list of illnesses thought to be caused by prions
(abnormal brain proteins), according to researchers.
- "These findings emphasize the need
to monitor prion diseases and to assess their potential risks to public
health," write Drs. Pierluigi Gambetti and Piero Parchi of Case Western
Reserve University, Cleveland, Ohio. Their comments come in response to
a study published in the May 27th issue of The New England Journal of Medicine.
- Prions are abnormal proteins that appear
to trigger a gradual degeneration of brain tissue. Scientists have designated
prion activity as a possible cause of at least four rare degenerative brain
illnesses " Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker
disease, kuru (found in New Guinea tribes that practiced cannibalism),
and a genetically-inherited form of fatal chronic insomnia.
- Prions are also thought to be responsible
for a variant of Creuztfeldt-Jakob disease, the fatal degenerative brain
disorder that is similar in progression to the 'mad cow disease' found
- In this issue of the Journal, researchers
led by Dr. James Mastrianni of the University of California, San Francisco,
report the first confirmed case of 'sporadic' (non-inherited) fatal insomnia
linked to prions.
- They describe the case of a 44-year-old
man who died after 16 months of severe insomnia, gradually culminating
in a loss of motor control, hallucinations, delusions, and respiratory
- Post-mortem tests on the patient's brain
tissue and DNA testing revealed the presence of prions, but not the genetic
abnormalities that are the hallmark of the familial form of fatal insomnia.
- In their commentary, Gambetti and Parchi
acknowledge that "one might question the establishment of a novel
disease on the basis of a single case, but... we have also recently described
five patients with similar (disease) features." They believe that
this mounting body of evidence "establish(es) the existence of the
sporadic form of fatal insomnia," potentially linked to prion activity.
- Both the sporadic and familial forms
of fatal insomnia appear to be extremely rare disorders. For example, experts
have so far only isolated 24 families around the world who seem predisposed
to the inherited form of the disease.
- Prions - New Brain Disorder
Linked To Mad Cow Disease
- CHICAGO (AFP) - A new neurological disorder is shedding light on prions,
the mysterious, deformed proteins that also cause bovine spongiform encephalopathy
(BSE) or "mad cow disease" as well as a variety of related human
- The first identified case of sporadic
fatal insomnia (SFI), a disease linked to a genetic disorder called fatal
familial insomnia (FFI), is spotlighted in the latest issue of the New
England Journal of Medicine.
- "We found a disease that is indistinguishable
from the genetic disorder but lacks the disease gene," said James
Mastrianni, a University of Chicago neurologist and lead author of the
- He said the genetic form was found in
only 24 extended families worldwide, while the sporadic form, although
still rare, may turn out to be more common.
- Symptoms occurred when deformed prions
-- caused by irregularities in the folding of a particular protein -- stop
functioning, cannot be chewed up by enzymes or eliminated from the brain
and gradually accumulate, causing untreatable sleeplessness, loss of coordination,
loss of mental function and ultimately death usually within less than two
- The documented SFI case involves a previously
healthy 44-year-old California man whom Mastrianni had treated in San Francisco
two years ago for sleep loss.
- After four months of sleeping an average
of one hour per night, the patient began having trouble walking, lost weight,
produced tears excessively, could not swallow properly and gradually lost
coordination and short-term memory. Afflicted with severe delusions, he
- An autopsy of the patient showed brain
damage consistent with FFI but no evidence of the abnormal gene in any
tissue. There was no prior history of a similar disease in his family.
- Mastrianni and colleagues at the University
of California then used extracts from the patient's brain and from the
brain of an FFI-stricken patient to transmit the disease to transgenic
mice that carried a mouse/human prion protein gene.
- The symptoms in the affected mice were
indistinguishable and the scientists concluded that the strains were identical.
- "Even in the familial form, it's
the prion strain, and not the variation in the gene that ultimately determines
the consequences of the disease," Mastrianni surmised.
- SFI is thus part of a wide range of prion
diseases that include BSE, its human offshoot known as new variant Creutzfeld-Jakob
disease and perhaps more common human brain disorders such as Alzheimer's
disease or Parkinson's disease.
- Pierluigi Gambetti, a neurologist at
Case Western Reserve University in Cleveland, said the findings by Mastrianni's
team underscored the need to monitor prion diseases and assess their potential
risks to public health.
- "Surveillance is required not only
to detect novel variants of prion diseases but also to monitor their prevalence
and determine whether they are sporadic, inherited or acquired by infection
from animals or humans," he said.
- In a related development, a Food and
Drug Administration (FDA) panel was to meet in Washington next Wednesday
to review possible additional steps to protect the US blood supply from
exposure to food-borne BSE that could spread new-variant CJD.
- The controversial steps under consideration
include barring people who lived in Britain or other BSE-affected country
during the high-risk period (1980 to 1996) from donating blood or blood
products in this country.