DIAGNOSTIC TESTS
|
PATIENT
|
|
MRI – increased
signal can be seen to light up the basal ganglia on one or both
sides of the brain (detected in 80% of patients with CJD)
|
Negative
|
|
Head CT –
Negative
|
Negative
|
|
Electroencephalography
(EEG) a periodic sharp wave pattern (occurs in two thirds of the
cases)
or
Periodic pattern called ‘burst wave suppression in which short
periods of comparative electrical silence are broken by a quick
succession of sharp waves (less definite but still suggestive of
CJD)
|
Negative (no one in
our family showed the typical spike patterns in the EEG)
|
|
Cerebral Spinal
Fluid (CSF) appears normal except occasional elevation in protein
|
Protein
in CSF was slightly elevated
|
|
Positive spinal
fluid test for the 14-3-3 prion protein (detected in over 90% of
patients with CJD)
|
Not
performed correctly
|
|
Diagnostic tests of
other treatable diseases are negative
|
All diagnostic
tests for treatable illnesses were negative
|
|
Positive blood test
for CJD mutation (familial CJD only)
|
Positive (in
addition, we had a strong family history of familial CJD)
|
|
Positive Brain
Biopsy (this can be a dangerous procedure and is only advisable when
an alternative, treatable disease is suspected)
|
Not
performed
|
|
Diagnostic
post-mortem examination
|
Not
performed
|
SYMPTOMS
|
|
|
Mental
deterioration or emotional disturbance
|
|
|
Simple loss of memory
|
Present
|
|
Subtle loss of reasoning
ability
|
Present
|
|
Confusion about time or
place
|
Present
|
|
Hallucinations
|
Present
|
|
Depression
|
Unable
to determine
|
|
Anxiety
|
Unable
to determine
|
|
‘Bizarre’ or
uncharacteristic behavior
|
Unable
to determine
|
|
Physical
abnormalities
|
|
|
Difficulty in walking or
climbing stairs (gait
ataxia)
|
Present
|
|
Inability to manipulate
eating utensils
|
Present
|
|
Inability to speak clearly
|
Present
|
|
Blurred
or clouded vision
|
Present (included
double vision and supra-nuclear gaze palsy)
|
|
Dizziness or even vertigo
|
Unable
to determine
|
|
Rapid
horizontal eye
movements (nystagmus)
|
Unable
to determine
|
PROGRESSIVE SYMPTOMS
|
|
|
Global dementia
|
Present
|
|
Inability to walk
or sit
|
Present
|
|
Inability to take
care of oneself
|
Present
|
|
Blindness
|
Present (eventually
could only see shadows)
|
|
Involuntary
movements in the form of muscle twitching (myoclonus)
|
Present
|
|
Muscle weakness or
paralysis
|
Present
|
END OF CLINICAL COURSE
|
|
|
Mute
|
Present
|
|
Unresponsive
|
Present
(semi-coma)
|
|
Rigid
|
Present
|
