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Chapter 107 : Transimissible Spongiform Encephalopathies

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Abstract:

The most widely accepted hypothesis on the nature of the infectious agent causing transmissible spongiform encephalopathies (TSEs), which is termed a prion (for proteinaceous infectious particle), predicates that it consists of a scrapie-like prion protein (PrP), an abnormally folded, protease-resistant, beta-sheet-rich isoform of a normal cellular prion protein (PrP). Human prion diseases manifest as sporadic, genetic, and acquired disorders. They are referred to as sporadic Creutzfeldt-Jakob disease (sCJD), genetic CJD (gCJD), variant CJD (vCJD), and iatrogenic CJD (iCJD). Direct intracerebral exposure to prions and implantation of prion-contaminated dura, for example, are associated with short incubation periods (16 to 28 months), whereas exposure to prions at sites outside the central nervous system (CNS) results in long incubation times ranging from 5 to 30 years. The diagnosis of human prion diseases is based on the evaluation of clinical signs and auxiliary examinations. Whole blood may be used for isolation of DNA for genetic analysis (exclusion of gCJD). Tissue should be fixed in formalin for histologic assessment and snap-frozen for Western blotting. Western blotting is routinely performed on unfixed tissue originating from the CNS. The entire open reading frame may be amplified for sequencing, using PCR. All testing other than detection of surrogate markers in the cerebrospinal fluid (CSF), sequencing of , and neuropathology is usually performed on a research basis.

Citation: Aguzzi A, Glatzel M. 2011. Transimissible Spongiform Encephalopathies, p 1677-1684. In Versalovic J, Carroll K, Funke G, Jorgensen J, Landry M, Warnock D (ed), Manual of Clinical Microbiology, 10th Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816728.ch107

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Figures

Image of FIGURE 1
FIGURE 1

Histological features of prion diseases. CNS parenchyma of sCJD (A and B) and vCJD (C and D) shows astrogliosis and widespread spongiform changes. PrP depositions are synaptic (A and B) and in the form of florid plaques (asterisk, C and D). Panels A and C are hematoxylin and eosin stains, and panels B and D are immunohistochemical stains for PrP (scale bar 5 50 mm).

Citation: Aguzzi A, Glatzel M. 2011. Transimissible Spongiform Encephalopathies, p 1677-1684. In Versalovic J, Carroll K, Funke G, Jorgensen J, Landry M, Warnock D (ed), Manual of Clinical Microbiology, 10th Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816728.ch107
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Image of FIGURE 2
FIGURE 2

Western blot analysis of PrPSc. Depicted are PrPSc types according to two proposed schemes ( ) which discriminate PrPSc types based on the mobility of the unglycosylated band of PrPSc and the signal intensity of PrPSc di-, mono-, and unglycosylated forms. One scheme ( ) differentiates four principal PrPSc types (1 through 4). Three principal PrPSc types (1, 2a, and 2b) are proposed in the second scheme ( ).

Citation: Aguzzi A, Glatzel M. 2011. Transimissible Spongiform Encephalopathies, p 1677-1684. In Versalovic J, Carroll K, Funke G, Jorgensen J, Landry M, Warnock D (ed), Manual of Clinical Microbiology, 10th Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816728.ch107
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Tables

Generic image for table
TABLE 1

Clinical, diagnostic, and neuropathological features of human prion diseases

PSWC, periodic sharp wave complexes.

WB, Western blotting.

—, age at onset depending on iatrogenic exposure: incubation period, 1 to 30 years.

Citation: Aguzzi A, Glatzel M. 2011. Transimissible Spongiform Encephalopathies, p 1677-1684. In Versalovic J, Carroll K, Funke G, Jorgensen J, Landry M, Warnock D (ed), Manual of Clinical Microbiology, 10th Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816728.ch107
Generic image for table
TABLE 2

Disease-causing mutations in

Citation: Aguzzi A, Glatzel M. 2011. Transimissible Spongiform Encephalopathies, p 1677-1684. In Versalovic J, Carroll K, Funke G, Jorgensen J, Landry M, Warnock D (ed), Manual of Clinical Microbiology, 10th Edition. ASM Press, Washington, DC. doi: 10.1128/9781555816728.ch107

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