Prion Disease PDF

**[Prion Disease]** **The Prion Diseases or (TSEs)** - Sporadic Creutzfeldt-Jakob Disease (sCJD) - Most common (85%). - Mean age onset 65yrs - Avg. duration from first symptoms to death is 4 -- 6 months - End stage is usually akinetic mutism. - Inherited Prion Dise...

**[Prion Disease]** **The Prion Diseases or (TSEs)** - Sporadic Creutzfeldt-Jakob Disease (sCJD) - Most common (85%). - Mean age onset 65yrs - Avg. duration from first symptoms to death is 4 -- 6 months - End stage is usually akinetic mutism. - Inherited Prion Disease (IPD) - Second most common (10 -- 15%) - Error in DNA code of the prion protein gene. - Age onset ranges from 20s to 80s and lasts from 2 to 20 years. - Acquired CJD - Rare ( \< 1%) - Acquired by medications, meat, surgeries, and blood. **Cellular Prion Protein (PrP^c^)** - The gene "PRNP" provides the information to make the cellular prion protein. - This protein helps protect brain cells from damage and allows brain cells to communicate with each other. - If the protein is corrupted to form a misfolded PrP^c^, which is causes the disease. This them becomes a self-amplifying process. - Abnormal prion proteins consist of proteinaceous infectious agent, abnormal proteins resistant to enzymes, conformational influence, aggregation, and spongiosis. **Presenting Symptoms** - Unsteadiness - Myoclonus: irregular, short jerk-like episodes. - Vision issues - Problems thinking and planning - Cognitive impairment: learning and memory, attention, executive dysfunction. - Changes to speech - Communication problems: dysphasia, dysarthria, repeating words. - Change in behaviour - Agitation and anxiety, reduces as disease progresses. - Sleep disturbance - Hallucinations **Investigations for sCJD** - MRI brain scan: 90-95% accurate. - Blood test for genetic prion disease. - Electroencephalogram (EEG): assesses brain waves \ 95% accurate.