Creutzfeldt-jakob Disease
What's New
Last Posted: Jul 21, 2022
- Genetic counseling for prion disease: Updates and best practices.
Goldman Jill S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 - Genetic counseling for prion disease: Updates and best practice
JS Goldman, et al, Genetics in Medicine, July 12, 2022 - Estimation of the number of inherited prion disease mutation carriers in the UK.
Corbie Rosie et al. European journal of human genetics : EJHG 2022 - Human Prion Disease Surveillance in Washington State, 2006-2017.
Sánchez-González Liliana et al. JAMA network open 2020 Oct 3(10) e2020690 - Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
E Jones et al, Lancet Neurology, October 2020 - Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease.
Kang Yoon-Jung et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Mar - The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.
Gao Li-Ping et al. Scientific reports 2019 Feb 9(1) 1836 - Sensitivity and specificity evaluation of multiple neurodegenerative proteins for Creutzfeldt-Jakob disease diagnosis using a deep-learning approach.
Lee Sol Moe et al. Prion 2019 Jan 13(1) 141-150 - Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.
Clift Kristin et al. Prion 2016 Nov 10(6) 502-506 - Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy.
Manix Marc et al. Neurosurgical focus 2015 Nov (5) E2 - Distinct pathological phenotypes of Creutzfeldt-Jakob disease in recipients of prion-contaminated growth hormone.
Cali Ignazio et al. Acta Neuropathol Commun 2015 3(1) 37 - A protein variant can provide protection from deadly brain-wasting
T Hesman Saey, SCience News, June 11, 2015 - A genome wide association study links glutamate receptor pathway to sporadic creutzfeldt-jakob disease risk.
Sanchez-Juan Pascual et al. PLoS ONE 2014 (4) e0123654 - A naturally occurring variant of the human prion protein completely prevents prion disease.
Asante Emmanuel A et al. Nature 2015 Jun 10. - A New Practical Diagnostic Test for Creutzfeldt-Jakob Disease.
Brown Paul et al. Infect Control Hosp Epidemiol 2015 May 7. 1 - Genetic mutation blocks prion disease: Unknown mechanism helped some people in Papua New Guinea escape historic, deadly outbreak.
B Deng. Nature News and Comments, June 10, 2015 - Proteomic analysis of host brain components that bind to infectious particles in Creutzfeldt-Jakob disease.
Kipkorir Terry et al. Proteomics 2015 May 1. - Rapidly Progressive Young-Onset Dementias: Neuropsychiatric Aspects.
Shrestha Rajeet et al. Psychiatr. Clin. North Am. 2015 Jun (2) 221-232 - The influence of PRNP polymorphisms on human prion disease susceptibility: an update.
Kobayashi Atsushi et al. Acta Neuropathol. 2015 May 29. - Validation of 14-3-3 Protein as a Marker in Sporadic Creutzfeldt-Jakob Disease Diagnostic.
Schmitz Matthias et al. Mol. Neurobiol. 2015 May 7. - Classic Creutzfeldt-Jakob disease
- Variant Creutzfeldt-Jakob disease
- Prion Diseases
- Creutzfeldt-Jakob disease
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
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- Cystic Fibrosis
- Duchenne Muscular Dystrophy
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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