CJD Prion disease criteria

UCSF modified criteria (Geschwind)
Rapid cognitive decline with any two (2) of
1. Myoclonus
2. Pyramidal/EP
3. Visual
4. Cerebellar
5. Akinetic mutism
6. Other cortical signs (aphasia, apraxia, acalculia, etc.)

and
1. typical MRI or EEG
2. No other disease that adequately explains diagnosis.

Competing criteria: Master's, WHO criteria see AAN syllabus 2009
14,3,3 positivity is included in WHO criteria but not UCSF modified criteria

More information:
1. CSF tests are markers of rapid neuronal injury, not diagnostic. The 3 tests most used are 14,3,3,; NSE; total tau (greater than 1200). The sensitivity and specificity of the 3 tests are, respectively, sensitivity: 53,63,69; specificity: 69, 86, 95.

2. MRI, esp. FLAIR and DWI images, show cortical ribboning and also involves CN, PUT, and/or THAL

3. Cases lacking MRI changes may be genetic variant, consider genetic test for MM2 subtest before brain biopsy.

4. vCJD is more likely than sCJD to have "pulvinar sign" on MRI

5. Symptoms , signs, lab tests NOT found typically in CJD: seizures, GI symptoms, ataxia without dementia, CN abnormality other than mild diplopia, stroke like hemiparesis, true focal weakness, or chorea (except in GSS). Lab findings not indicative of CJD include: normal DWI/FLAIR; FLAIR without concomitant DWI abnormality; abnormal contrast enhancement; severe leukoencephalopathy; , mass effect or edema; CSF pelocytosis, protein>100 , or elevated IgG index or OCB's.

6. First symptoms in a large sCJD cohort: cognitive , 40 % (of which, memory loss 45%, executive dysfunction, 13%; dysphasia 13 %, confusion), cerebellar signs 22 % (84 % gait/balance, 12 % limb ataxia); constitutional 21 % (vertigo/dizzy 41 %, fatigue 20 %, sleep disorder 10 %).