transmissible spongiform encephalopathy (prion disease)
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Introduction
Transmissible spongiform encephalopathies are a group of prion- associated diseases.
Classification
- animal spongiform encephalopathies
- human diseases
Epidemiology
Pathology
- incubation period of years to months
- none evoke an inflammatory process
- disease is largely restricted to the CNS
- potentially transmitted across species
Biochemistry
Clinical manifestations
- rapid cognitive decline
- myoclonus
- pyramidal signs & extrapyramidal signs
- visual impairment
- cerebellar dysfunction, ataxia
- akinetic mutism
- cortical signs
- symptomatic progression refractory to any therapy
Laboratory
- cerebrospinal fluid appears normal
- transmissible spongiform encephalopathy in brain by light microscopy[9]
- abnormal prion protein in brain
- abnormal prion protein in tissue
- abnormal prion protein in brain by electron microscopy[9]
- 14-3-3 protein in CSF (disease duration < 2 years)
- insufficiently sensitive or specific[2]
- CSF real time quaking-induced conversion assay is the most sensitive & specific test for prion proteins in CSF (MKSAP19)[2]
Diagnostic procedures
Radiology
Management
- uniformly fatal, no specific treatment
- advance directives
- end of life planning
Comparative biology
More general terms
More specific terms
- animal spongiform encephalopathy
- Creutzfeldt-Jakob [CJ] disease
- fatal familial insomnia
- Gerstmann-Straussler-Scheinker disease
- Huntington disease like 1
- kuru
Additional terms
References
- ↑ Johnson RT & Gibbs CJ Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. N Engl J Med. 1998 Dec 31;339(27):1994-2004. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/9869672
- ↑ 2.0 2.1 2.2 Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 18, 19. American College of Physicians, Philadelphia 2009, 2012, 2018, 2021.
- ↑ Holman RC, Belay ED, Christensen KY et al Human prion diseases in the United States. PLoS One. 2010 Jan 1;5(1):e8521 PMID: https://www.ncbi.nlm.nih.gov/pubmed/20049325
- ↑ Rosenbloom MH, Atri A. The evaluation of rapidly progressive dementia. Neurologist. 2011 Mar;17(2):67-74. PMID: https://www.ncbi.nlm.nih.gov/pubmed/21364356
- ↑ Ryou C. Prions and prion diseases: fundamentals and mechanistic details. J Microbiol Biotechnol. 2007 Jul;17(7):1059-70. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18051314
- ↑ 6.0 6.1 Moreno JA et al Oral Treatment Targeting the Unfolded Protein Response Prevents Neurodegeneration and Clinical Disease in Prion- Infected Mice. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/24107777 <Internet> http://stm.sciencemag.org/content/5/206/206ra138
- ↑ Imran M, Mahmood S. An overview of human prion diseases. Virol J. 2011 Dec 24;8:559. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/22196171 Free PMC Article
- ↑ Sikorska B, Liberski PP. Human prion diseases: from Kuru to variant Creutzfeldt-Jakob disease. Subcell Biochem. 2012;65:457-96. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23225013
- ↑ 9.0 9.1 9.2 Loinc
- ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Transmissible Spongiform Encephalopathies Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Transmissible-Spongiform-Encephalopathies-Information-Page
Patient information
transmissible spongiform encephalopathy patient information