Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Disease (CJD)= a universally fatal neurodegenerative disease
• Swift: Kills 90% of patients within 1 year of prognosis
• Rare: 1 case out of 1 million people worldwide
Phenotypes= observable characteristics of an individual with CJD
• Cognitive: Disorientation, memory loss, mental confusion, dementia o Ex. “I have trouble falling down”
• Muscular: Slow body movement, jerking muscle spasms, coordination impairment o Ex. balance problems
• Other: Blurred vision, insomnia, loss of language skills (production + comprehension), apathy
• 40% of patients presented with cognitive phenotypes, 40% present with muscular, 20% a combination of both (Creutzfeldt-Jakob Disease Foundation)
• Many of the phenotypes …show more content…
o “an infectious protein particle similar to a virus but lacking nucleic acid”
Pathology:
What is the abnormality in the nervous system?
• Normal prion proteins (PrPc) found in the membranes of neurons o Produced in the endoplasmic reticulum, processed by Golgi Apparatus, and transported to the neural membrane o Predominantly made up of alpha-helical configurations
• In abnormal prions (PrPSC): configuration is mostly made up of beta-pleated sheets o These abnormal prions induce normal prions into abnormal configuration aggregate o They are also resistant to enzyme digestion, so they can accumulate outside of the cell or inside lysosomes
neuronal death cortical atrophy (especially the frontal lobe) cognitive and muscular impairment
• While general symptoms are similar across all patients, severity and onset of symptoms depend on the individual patient because each patient has a different prion protein gene. o 2 copies of prion gene= ~250 bps on Chromosome 20 o Polymorphism at position 129 is associated with different clinical presentations with patients who develop prion
Creutzfeldt-Jakob Disease (CJD)= a universally fatal neurodegenerative disease
• Swift: Kills 90% of patients within 1 year of prognosis
• Rare: 1 case out of 1 million people worldwide
Phenotypes= observable characteristics of an individual with CJD
• Cognitive: Disorientation, memory loss, mental confusion, dementia o Ex. “I have trouble falling down”
• Muscular: Slow body movement, jerking muscle spasms, coordination impairment o Ex. balance problems
• Other: Blurred vision, insomnia, loss of language skills (production + comprehension), apathy
• 40% of patients presented with cognitive phenotypes, 40% present with muscular, 20% a combination of both (Creutzfeldt-Jakob Disease Foundation)
• Many of the phenotypes …show more content…
o “an infectious protein particle similar to a virus but lacking nucleic acid”
Pathology:
What is the abnormality in the nervous system?
• Normal prion proteins (PrPc) found in the membranes of neurons o Produced in the endoplasmic reticulum, processed by Golgi Apparatus, and transported to the neural membrane o Predominantly made up of alpha-helical configurations
• In abnormal prions (PrPSC): configuration is mostly made up of beta-pleated sheets o These abnormal prions induce normal prions into abnormal configuration aggregate o They are also resistant to enzyme digestion, so they can accumulate outside of the cell or inside lysosomes
neuronal death cortical atrophy (especially the frontal lobe) cognitive and muscular impairment
• While general symptoms are similar across all patients, severity and onset of symptoms depend on the individual patient because each patient has a different prion protein gene. o 2 copies of prion gene= ~250 bps on Chromosome 20 o Polymorphism at position 129 is associated with different clinical presentations with patients who develop prion