'New CJD type' discovered in US

BBC News is reporting the following:

A new form of Creutzfeldt-Jakob disease (CJD) may have been uncovered in a handful of patients in the US.

Before we get into the details of the report let's look at some foundational information:

The following is From the Center for Disease Control

Classic CJD is a human prion disease. It is a neurodegenerative disorder with characteristic clinical and diagnostic features. This disease is rapidly progressive and always fatal. Infection with this disease leads to death usually within 1 year of onset of illness.

Important Note: Classic CJD is not related to "mad cow" disease. Classic CJD also is distinct from "variant CJD", another prion disease that is related to BSE.

For information about these diseases, see:

"Mad cow" disease (bovine spongiform encephalopathy or BSE)


Variant Creutzfeldt-Jakob Disease (vCJD)


Occurrence and Transmission

Classic CJD has been recognized since the early 1920s. The most common form of classic CJD is believed to occur sporadically, caused by the spontaneous transformation of normal prion proteins into abnormal prions. This sporadic disease occurs worldwide, including the United States, at a rate of approximately one case per 1 million population per year, although rates of up to two cases per million are not unusual. The risk of CJD increases with age, and in persons aged over 50 years of age, the annual rate is approximately 3.4 cases per million. In recent years, the United States has reported fewer than 300 cases of CJD a year.


Whereas the majority of cases of CJD (about 85%) occur as sporadic disease, a smaller proportion of patients (5-15%) develop CJD because of inherited mutations of the prion protein gene. These inherited forms include Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia.

For more information follow this link:
CJD


Now back to the BBC report:

Ten people have so far died from a fast-advancing form of fatal dementia called PSPr, New Scientist reports.

Patients develop the trademark brain damage associated with CJD - the type not linked to BSE - but scientists believe there may be a genetic cause.

Experts in the UK are now checking records to see if any cases have happened across the Atlantic.

There are between 50 and 100 new cases of so-called sporadic CJD diagnosed in the UK every year.

Unlike "variant CJD", the human form of BSE in cows contracted by eating contaminated brain tissue in the 1980s and 1990s, the cause of most cases of sporadic CJD is unknown.

The new cases were referred to CJD surveillance units in the US because they were a suspiciously fast-advancing form of dementia with additional symptoms such as the loss of the ability to speak and move, even though traditional tests that normally help diagnose CJD proved negative.

Post-mortems on those who died revealed the familiar "spongy" brain tissue, covered with tiny holes.

These are thought to be caused by the accumulation of "prions", a misshapen version of a normal brain protein.

Dr Pierluigi Gambetti, director of the US National Prion Disease Pathology Surveillance Center, in Ohio, said that he believed the newly discovered type had probably "been around for years, unnoticed".

He suggested one interesting common factor was that the patients came from families with a history of dementia, suggesting a genetic cause, but did not carry the gene traditionally associated with a small number of sporadic CJD cases.

Dr Mark Head, from the UK's National CJD Surveillance Unit, in Edinburgh, said the finding had prompted scientists to start reviewing cases of sporadic CJD in this country to see if there were any of the newly discovered version.

He said: "What is interesting about this is that it may mean there are other genes out there waiting to be found which are associated with prion disease, and looking at these patients in the US could help find them."

Here is the link to the original story:

BBC


RELATED INTERNET LINKS
Annals of Neurology
New Scientist
National CJD Surveillance Unit