Creutzfeldt - Jakob disease (CJD) is a rare, fatal brain disorder consisting of four types: sporadic (most common - makes up 85 - 95% of all CJD cases - sometimes referred to as classic), familial (represents 5-15%of all CJD cases), variant, and iatrogenic.
Prion (infectious protein)
Sporadic CJD (sCJD) – mode of transmission is unknown
Familial CJD (fCJD) – inherited
Variant CJD (vCJD) – believed to be associated with consumption of beef products from cows contaminated with the agent of mad cow disease.
Iatrogenic CJD (iCJD) - transmission can occur through certain medical or surgical procedures.
Sporadic CJD (sCJD) Symptoms may include rapidly progressive dementia, myoclonus, ataxia, vision and speech difficulties. Typically occurs in persons greater than 55 years of age. Average duration of illness is 3 months.
Familial CJD (fCJD) Symptoms and duration of illness vary depending on type of mutation. Symptoms may be similar to sCJD.
Variant CJD (vCJD) Symptoms may include early psychiatric symptoms and dysaesthesia/paresthsias progressing to chorea/dystonia or myoclonus, dementia, ataxia, and/or akinetic mutism. Typically occurs in persons less than 55 years of age (average age 28). Average duration of illness is 13 months.
Iatrogenic CJD (iCJD) Symptoms vary depending on portal of entry. If transmission occurs directly to brain symptoms will be similar to sCJD.
Treatment & Prevention
There is no known effective treatment or prevention.
Recent Texas Trends
CJD is a rare, invariably fatal neurodegenerative disease with a rate of .5 to 1.5 cases per million inhabitants per year. In Texas, the average rate of CJD deaths per million population over the past 10 and 5 years is 0.77 cases per million and 0.85 cases per million; respectively. This corresponds to an average of 18.5 cases reported per year over the last 10 years and an average of 21.4 cases reported per year over the past 5 years. Population increase and increase in surveillance efforts account for this increase.
CJD is still under-reported (even though CJD is a NOTIFIABLE disease in Texas) and misdiagnosed. The under-reporting of disease, the rarity of disease, and the lack of pre-mortem confirmatory diagnostic test all contribute to rates being below the expected 1.0 case per million population per year.
To confirm a diagnosis of CJD neuropathological analysis of brain tissue must be performed. Brain tissue is preferably obtained by autopsy rather than biopsy. Efforts still continue to educate the public and medical providers on the importance of confirming a diagnosis and the services available to those interested in a confirmatory diagnosis (many of them are at no cost to the family). Autopsy is available free through the National Prion Disease Pathology Surveillance Center for all suspect cases of CJD. Please see www.cjdsurveillance.com for more information.