Australian National CJD Registry

Creutzfeldt-Jakob disease (CJD) is one of the human forms of the transmissible spongiform encephalopathies (TSE), also referred to as prion diseases. Prion diseases mostly occur as a chance event (sporadic CJD), but can be in rare cases attributed to a genetic mutation (genetic CJD) or be acquired through a transmission event (iatrogenic forms or variant CJD). Further information can be found “Information about CJD and TSEs”

The Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR) was established in October 1993 in response to four deaths of medically acquired (iatrogenic) CJD related to a human pituitary hormone treatment program for infertility and short stature, which ceased in Australia in 1985. The ANCJDR is under contract to the Commonwealth Department of Health and is responsible for the national surveillance of clinically suspected and diagnosed human prion diseases in Australia. In addition, the ANCJDR has formal agreements with State Health Departments in Victoria, New South Wales, Queensland and Western Australia to assist in the evaluation of notified cases of “possible CJD”.

The key objectives of the ANCJDR are:

  • Diagnostic testing of CSF specimens (eg 14-3-3), PrPres testing of tonsil biopsies and molecular sub-typing of sporadic CJD using brain tissue (PRNP codon 129 and prion protein glycotype)
  • National surveillance and epidemiology of all human TSEs (further explanations can be found in the “infection control and surveillance” section and “information about CJD and TSEs” section)
  • Notifications and public health risk assessments in VIC, NSW and QLD
  • Secretariat and expert advice to the national incident panel for infection control
  • Education and expert advice to clinicians as the national reference centre for human TSEs
  • Prion research, nationally and internationally, in collaboration with other institutions

 

The ANCJDR is grateful for the generous assistance and support from families affected by CJD and other prion diseases; their generosity allows the ANCJDR to collect invaluable information for public health surveillance and epidemiology research. If your family has been affected by CJD and you would like to contribute to the ANCJDR’s surveillance efforts, please contact the ANCJDR coordinator.

 

ANCJDR management

Prof. Steven Collins

Prof. Colin Masters

 

 

The ANCJDR is a collaboration between the Florey Institute of Neuroscience and Mental Health and The University of Melbourne.


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Contact information

Office hours

Specimen reception: Weekdays 8am – 4 pm

Registry office: Weekdays 9am – 5 pm

CLOSED ON VICTORIAN PUBLIC AND UNIVERSITY HOLIDAYS

 

The CJD Support Group Network provides a 24 hour hotline (1800 052 466) and is able to contact the ANCJDR coordinator in urgent matters.

 

CSF samples collected at times when the ANCJDR is closed can be stored frozen until the ANCJDR reopens.

 

Postal address

Australian National Creutzfeldt-Jakob Disease Registry

The Florey Institute of Neurosciences and Mental Health

30 Royal Parade

Parkville, Victoria, 3052 

Email: ancjd-reg@unimelb.edu.au

Phone: 61 3 8344 1949

Fax: 61 3 9349 5105

 

 

Specimen delivery (weekdays from 8am to 4pm)

The Australian National CJD Registry
The Florey Institute of Neuroscience and Mental Health
The University of Melbourne
Kenneth Myer Building

30 Royal Parade (Corner Genetics Lane and Royal Parade)
Gate 11, Rear Loading dock
Parkville, Victoria 3052
Australia

Diagnostic tests

The ANCJDR provides routine diagnostic testing services to aid the assessment of suspected sporadic, familial and iatrogenic TSE cases nationwide and, as required, to New Zealand and South-East Asian countries. These include the CSF 14-3-3 protein Western Blot test and vCJD testing for PrPres using tonsil biopsies.

Additional diagnostic tests recommended:

 

Further information on testing for dementia biomarkers (Abeta 1-42, Tau and Phospho Tau) in CSF can be found at the National Dementia Diagnostic Laboratories (NDDL)

Information about CJD and prion diseases

Human prion diseases are a rare group of fatal neurodegenerative diseases, which have currently no cure. In most cases, they are marked by a rapid progression of symptoms. Clinical features of prion diseases comprise varying combinations of neurological signs and symptoms including dementia, psychiatric symptoms, incoordination of movements (ataxia, dysarthria), myoclonus (muscle jerks), weakness, spasticity, chorea, seizures, and/or autonomic disturbances. These diseases affect approximately 1 to 2 per people in every one million worldwide per year. Prion diseases can affect humans and animals, the best know prion disease in animals is bovine spongiform encephalopathy (BSE). Prion diseases are unique in that they are transmissible and can be genetic.

Human prion diseases include:

Sporadic CJD (sCJD)

85% to 90% of all cases.  Sporadic means that the condition is neither inherited nor due to transmission from another person; no contributing risk factors have been identified so far. Family members of people who have had sporadic CJD are not at increased risk of developing CJD.

Cerebral cortex showing typical diffuse microvacuolation (spongiform change)

Cerebral cortex showing typical diffuse microvacuolation (spongiform change)

 

Acquired forms of prion diseases

Iatrogenic or medically acquired CJD (iCJD) - a very rare condition, iCJD is an acquired form of disease due to transmission via medical treatments or surgical procedures.

Kuru - a prion disease affecting the Fore people of Papua New Guinea that was instrumental in establishing that prion diseases are transmissible. In the 1960s it was found that Kuru was largely transmitted through cannibalism.

Variant CJD (vCJD) - Variant CJD was first reported in 1996 in the UK. There have been 230 cases as of 2016, mainly in the UK, as a result of the consumption of BSE contaminated meat products. It is now known that vCJD can be transmitted through blood and blood products.  Variant CJD is typically quite different from iCJD and genetic CJD. There have been no identified cases of variant CJD in Australia.

Anti-prion protein immunohistochemistry of the cerebellar cortex showing positive staining emphasised in the granular layer with typical kuru plaques in a patient with kuru.

Anti-prion protein immunohistochemistry of the cerebellar cortex showing positive staining emphasised in the granular layer with typical kuru plaques in a patient with kuru.

Acquired forms of prion disease contribute to less than 1% of all cases since the introduction of appropriate public health policies.

 

Inherited forms of prion diseases

10% to 15% of cases, are due to a mutation in the prion protein coding gene (PRNP).

 

Familial CJD (fCJD)

Gerstmann-Sträussler Scheinker Syndrome (GSS)

Fatal familial insomnia (FFI)

Anti-prion protein immunohistochemistry of cerebellar cortex granular layer showing positive staining with typical multi-centric plaque in patient with known Gerstamann-Straussler-Scheinker syndrome

Anti-prion protein immunohistochemistry of the cerebellar cortex granular layer showing positive staining with typical multi-centric plaque in a patient with known Gerstamann-Straussler-Scheinker syndrome

 

The fundamental pathogenic event in prion diseases is believed to be the misfolding of the normal prion protein (PrPC) into an altered conformation (PrPSc), which accumulates in the brain and causes disease through unresolved mechanisms. The infectious unit of prion diseases, known as the “prion”, is believed to be composed mostly or entirely of PrPSc.

Infection control and surveillance

Prion disease is transmissible from one person to another only through invasive medical procedures involving high infectivity tissue (ie. brain, spinal cord, posterior eye chamber) by the transfer of contaminated prion protein. Transmission can occur from anyone with prion disease, irrespective of whether their prion disease is sporadic, inherited or iatrogenic. Therefore, prion diseases fall under notifiable disease legislation and are classified as notifiable diseases, which has implications for carriers of pathological PRNP mutations and their genetic (blood) relatives. Patients can be suspected with any of the various forms of prion diseases, including sporadic, acquired and genetic forms. Notification of a patient is indicated where a strong clinical suspicion for prion disease exists.

In transmissible (communicable) diseases, surveillance serves two key functions: early warning of potential threats to public health and disease monitoring. The early warning function of surveillance is fundamental for national, regional and global health security. Monitoring trends of a disease informs disease control or prevention policies.

Surveillance is the ongoing systematic collection, analysis and interpretation of data on a communicable disease to assist public health policies and practices. Epidemiology is an important part of disease surveillance, it is the study of the frequency and pattern or other causes and risk factors for a disease in a specific population. Epidemiologic studies assess whether characteristics such as genetic or immunologic make-up, behaviours, environmental exposures or other risk factors contribute to the occurrence of a disease in a specific population. The findings of these studies can prompt effective public health control and prevention measures. 

 

The ANCJDR is grateful for the generous assistance and support from families affected by CJD and other prion diseases; their generosity allows the ANCJDR to collect invaluable information for public health surveillance and epidemiology research. If your family has been affected by CJD and you would like to contribute to the ANCJDR’s surveillance efforts, please contact the ANCJDR coordinator.

 

Infection prevention/control precautions apply for the care of a patient with suspected CJD or a person at increased risk of developing CJD. It is recommended that all patients undergoing surgical or diagnostic procedures in which higher infectivity tissue will be exposed (e.g. neurosurgery, spinal cord surgery, ophthalmic surgery or pituitary surgery) should have their CJD risk status determined prior to the procedure.

 

High risk individuals

1.  Patients who report neurological symptoms and display neurological signs of prion disease or have been diagnosed with suspected CJD.

2.  Family members of a CJD patient who fit into the following categories:

a.  An individual who has undergone predictive testing and has been confirmed as a carrier of a pathological PRNP mutation,

b.  An individual, from a known genetic family, who has not undergone predictive testing to rule out or establish their own risk status,

c.  An individual who has had two or more first or second degree relatives who have died of CJD or other prion disease.

 

Genetically related members of any family in which there is a strong family history of dementia or neurological illness that are not suggestive of prion disease or not completely assessed for prion disease are classified as low risk.

 

The general population, who represent no identified increased risk of CJD transmission, are classified as background risk. These also include:

  • Genetically related members of a patient with sporadic prion disease (no mutation confirmed by PRNP testing) is classified as background risk.
  • Members from a known genetic family, who have undergone predictive testing and have a negative PRNP test result.
  • No special precautions should apply for procedures involving low or high infectivity tissue.
  • These individuals can also qualify as a blood donor if they fit all other donation criteria and provide appropriate documentation (ie. PRNP test result).

Complaints and compliments

Complaints about ANCJDR operations

 

Complaints about the ANCJDR operations can be forwarded to the ANCJDR Directors (Professor Steven Collins and/or Professor Colin Masters). 

Complaints management principles will be observed by the ANCJDR, as follows:

  • complaints will be taken seriously,
  • they will be handled in a timely manner,
  • the complainant will be kept informed of progress and outcome,
  • all parties will be afforded procedural fairness,
  • all relevant regulatory requirements will be observed when assessing complaints.

 

For further information please download the ANCJDR complaints protocol 

ANCJDR complaints protocol DOCX, 31.04 KB

 

Complaints related to the ANCJDR research

 

Complaints related to the ANCJDR research specific operations or potential breaches of ethical responsibilities can be forwarded to the University of Melbourne’s Human Research Ethics Committee:

Manager
Human Research Ethics Office for Research Ethics and Integrity
The University of Melbourne VIC 3010
Tel: 03 8344 2073
Email: humanethics-complaints@unimelb.edu.au

 

We also learn from compliments, please feel free to forward these to the ANCJDR coordinator.