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Review
. 2019 Mar 21;7(1):47.
doi: 10.1186/s40478-019-0699-1.

Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Dorina Tiple  1 , Anna Poleggi  1 , Vittorio Mellina  1 , Antonino Morocutti  2 , Livia Brusa  2 , Cesare Iani  2 , Elisa Colaizzo  1 , Luana Vaianella  1 , Simone Baiardi  3   4 , Anna Ladogana  1 , Piero Parchi  3   4 , Maurizio Pocchiari  5
Affiliations
Review

Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier

Dorina Tiple et al. Acta Neuropathol Commun. .
No abstract available

Keywords: Dementia; Genetic Creutzfeldt-Jakob disease; Mutation; Neuropathology; Prion diseases; R208H.

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Conflict of interest statement

Ethics approval and consent to participate

Ethic committee, Istituto Superiore di Sanità, Rome, Italy.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

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Figures

Fig. 1
Fig. 1
Histopathological features and western blot profile of PrPTSE in CJD R208H-129V. Status spongiosus associated with severe gliosis and neuronal loss in the temporal cortex (a, H&E, the asterisk indicates the white matter junction). Severe gliosis of subcortical white matter with many gemistocytic astrocytes and scattered macrophages (b, H&E, frontal lobe). Small, unicentric amyloid plaque (arrow) at the transition between the molecular and granular layers of the cerebellum (c, H&E). Synaptic PrP staining in the cortical gray matter and plaque-like deposits in subcortical white matter (d, PrP immunohistochemistry, temporal lobe). Diffuse synaptic pattern of PrPTSE deposition in the molecular layer and plaque-like deposits associated with few small plaques in the granular layer of the cerebellum (e, PrP immunohistochemistry). Immunoblot profiles of PK-treated PrPTSE in CJD R208H, sCJD MM1 and sCJD VV2 (f). Samples were probed with the primary antibody 3F4. Relative molecular masses are expressed in kDa. FC: frontal cortex, INS: insular cortex, CAU: caudate nucleus
See this image and copyright information in PMC

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