Creutzfeldt-Jakob disease: Public Health and Genomics - June 11, 2015

Genomics|Features|Creutzfeldt

Creutzfeldt-Jakob Disease and Prion Diseases

Creutzfeldt-Jakob disease: Public Health and Genomics - June 11, 2015

CDC and Related Info

• Classic Creutzfeldt-Jakob disease
• Variant Creutzfeldt-Jakob disease
• Genes reported in relation to Creutzfeldt-Jakob disease, including genomewide association studies via theHuGE Navigator

A naturally occurring variant of the human prion protein completely prevents prion disease.
Asante EA et al. Nature 2015 Jun 10. 

Genetic mutation blocks prion disease: Unknown mechanism helped some people in Papua New Guinea escape historic, deadly outbreak, by B Deng, Nature News and Comments, June 10

The influence of PRNP polymorphisms on human prion disease susceptibility: an update.
Kobayashi A et al. Acta Neuropathol. 2015 May 29.

A new practical diagnostic test for Creutzfeldt-Jakob disease.
Brown P et al. Infect Control Hosp Epidemiol 2015 May 7. 1

Rapidly progressive young-onset dementias: neuropsychiatric aspects.
Shrestha R et al. Psychiatr. Clin. North Am. 2015 Jun (2) 221-232

Validation of 14-3-3 protein as a marker in sporadic Creutzfeldt-Jakob disease diagnostic.
Schmitz M et al. Mol. Neurobiol. 2015 May 7.

Proteomic analysis of host brain components that bind to infectious particles in Creutzfeldt-Jakob disease.
Kipkorir T et al. Proteomics 2015 May 1.

A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.
Sanchez-Juan P et al. PLoS ONE 2014 (4) e0123654

Rare structural genetic variation in human prion diseases.
Lukic A et al. Neurobiol. Aging 2015 May (5) 2004.e1-8

Creutzfeldt-Jakob Disease: Recent Insights - August 14, 2014

A test for Creutzfeldt–Jakob disease using nasal brushings
Christina D. Orrú et al. New England Journal Medicine, August 6, 2014

Novel ways to detect Creutzfeld-Jacob disease? Daniela Lamas, Blog New England Journal Medicine, Aug 6

NIH and Italian scientists develop nasal test for human prion disease, Aug 6

CDC information: Classic Creutzfeldt-Jakob disease

CDC information: Variant Creutzfeldt-Jakob disease

National Institute of Neurological Disorders and Stroke:  About 5 to 10 percent of cases in the United States are hereditary.  In hereditary Creutzfeldt-Jakob Disease , the person has a family health history of the disease and/or tests positive for a genetic mutation associated with disease

22 genes have been reported with Creutzfeldt-Jakob Disease, including 3 genomewide association studies/ The most known gene is the prion protein PRNP. To find out more, visit the HuGE Navigator

Genetic variation in prion protein PRNP has been associated with several human diseases. To find out more, visit the HuGENavigator

Using science for health: lessons from Creutzfeldt-Jakob disease, by Dr Philippa Brice, PHG Foundation, Aug 13