Diagnosing CJD

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DIAGNOSING CJD

It is important to remember that the diagnosis of CJD cannot be established by the features of the illness, or by any single laboratory test. It is the total picture that counts (including the way in which the illness progresses), and in a very few cases, CJD may even be impossible to diagnose with confidence during the patient’s lifetime.

Diagnosis may or may not involve the following :

Diagnostic tests for ‘treatable’ diseases are negative
“Typical” symptoms at the onset of illness (Sample List)
Family History of similar neurological disease
Positive blood test for a CJD mutation *
Positive spinal fluid test for the 14-3-3 prion protein **
EEG abnormalities
MRI abnormalities
Positive Brain Biopsy – this can be a dangerous procedure and is only advisable when an alternative treatable disease is suspected
Diagnostic post-mortem examination

NOTE: All TREATABLE illnesses must be ruled out in patients suspected of having CJD. Rarely, CJD can mimic acute encephalitis, vitamin deficiencies, metabolic encephalopathies, and drug toxicities, and all such possibilities must be investigated before the ‘label’ of CJD is given to a patient. In other words, like other diseases for which there is no treatment or cure, CJD should be a diagnosis of exclusion.

*Adhere to the following steps to obtain a blood sample in which
the CJD mutation test can be performed:

1. Have 2 lavender top tubes of the patient’s blood drawn in a doctor’s office, clinical laboratory, Red Cross facility, hospital, etc. Hospice can also draw the blood specimen. Most laboratories are set up to send the blood directly the testing facility.

2. The blood specimens should be drawn on a Monday or Tuesday and sent in a well-insulated shipping container at room temperature by Fed-Ex overnight express to:

Dr. Pierluigi Gambetti, Director
National Prion Disease Pathology Surveillance Center
Institute of Pathology
Room 419, Case Western Reserve University
2085 Adelbert Road
Cleveland, OH 44106

Telephone: (216) 368-4090
Fax: (216) 368-4090
Email: cjdsurv@cwru.edu
Website: www.cjdsurveillance.com

** Adhere to the following steps to obtain a spinal fluid sample
in which the 14:3:3 prion protein test can be performed:

1. Obtain 1-2 mls of Spinal Fluid.

2.      Sample must be frozen on dry ice (or in a –20 or
   –70 freezer. NOT in the freezing compartment
   of an ordinary refrigerator).

3. Send whenever convenient in dry ice to: