Please enable JavaScript.
Coggle requires JavaScript to display documents.
Creutzfeldt-Jacob disease (CJD) (Types (1. Sporadic CJD (85-90%)…
Creutzfeldt-Jacob
disease (CJD)
Definition
Human transmissable spongiform
encephalopathy
Pathophysiology
Prion protein (PrP) gene
Mutation at polymorphic locus
Sporadic and acquired forms
Types
1. Sporadic
CJD
(85-90%)
Epidemiology
1/1m per yr,
60 cases/yr UK
Onset ~65y
Pathophysiology
Random mutation in PrP gene or
random misfolding of PrP protein
Spongiform change,
neuronal loss,
astrocytosis
Clinical
presentation
Rapid progressive
dementia
Cerebellar ataxia
Myclonus
Pyramidal and EPS signs
Diagnosis
History
Examination
Investigations
Bloods
including prion genetics)
CSF
(high protein,
increased tau)
Imaging
MRI
(hyperintense putamen
and caudate)
Special tests
EEG
(periodic triphasic
complexes)
Diagnostic
criteria
Rapidly
progressing
dementia
Group of
symptoms
Myoclonus
Visual or cerebellar
symptoms
Pyramidal or ES
symptoms
Akinetic mutism
Typical EEG
2. Familial
CJD
(10-15%)
3. Iatrogenic
CJD
(1%)
Human pituitary
derivatives
Dura mater and
corneal grafts
Variant
CJD
(<1%)
Epidemiology
Young patients
(16-50y)
176 cases UK
to date
Pathophysiology
Human form BSE,
ingestion of cow products
Amyloid plaques
Spongiform change
Abnormal PrP
Clinical
presentation
Psychiatric
Depression
Anxiety
Withdrawal
Hallucinations,
delusions
Aggression
Motor
Myclonus
Choreiform
movements
Dystonia
Ataxia
Sensory
Limb pain
Parasthesia
Numbness
Cold/burning
sensations
Cognitive
impairment
Diagnosis
History
Examination
Investigations
Bloods
(including PrP
genetics)
CSF
(high protein)
Imaging
MRI
(hyperintense
thalamus)
Biopsy
(tonsil, brain)
Management
Supportive/
palliative