Search results for "Prion disease"

showing 3 items of 13 documents

The cognitive profile of prion disease: a prospective clinical and imaging study

2015

Objectives Prion diseases are dementing illnesses with poorly defined neuropsychological features. This is probably because the most common form, sporadic Creutzfeldt-Jakob disease, is often rapidly progressive with pervasive cognitive decline making detailed neuropsychological investigation difficult. This study, which includes patients with inherited, acquired (iatrogenic and variant) and sporadic forms of the disease, is the only large-scale neuropsychological investigation of this patient group ever undertaken and aimed to define a neuropsychological profile of human prion diseases. Methods A tailored short cognitive examination of all of the patients (n = 81), with detailed neuropsycho…

Pediatricsmedicine.medical_specialtySettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicabusiness.industryGeneral NeuroscienceNeuropsychologyCognitionDiseasePrion diseases cognitive declineBioinformaticsPRNPClinical trialBasal gangliamedicineNeurology (clinical)Differential diagnosisCognitive declinebusinessResearch ArticlesAnnals of Clinical and Translational Neurology
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De Novo prion aggregates trigger autophagy in skeletal muscle

2014

ABSTRACT In certain sporadic, familial, and infectious prion diseases, the prion protein misfolds and aggregates in skeletal muscle in addition to the brain and spinal cord. In myocytes, prion aggregates accumulate intracellularly, yet little is known about clearance pathways. Here we investigated the clearance of prion aggregates in muscle of transgenic mice that develop prion disease de novo . In addition to neurodegeneration, aged mice developed a degenerative myopathy, with scattered myocytes containing ubiquitinated, intracellular prion inclusions that were adjacent to myocytes lacking inclusions. Myocytes also showed elevated levels of the endoplasmic reticulum chaperone Grp78/BiP, su…

PrionsAutophagosome maturationanimal diseasesBlotting WesternImmunologyMice TransgenicBiologyProtein degradationPolymerase Chain ReactionMedical and Health SciencesMicrobiologyTransgenicPrion DiseasesMiceVirologyAutophagymedicineAnimalsMyocyteMuscle SkeletalEndoplasmic Reticulum Chaperone BiPHeat-Shock ProteinsDNA PrimersMuscle CellsAgricultural and Veterinary SciencesBlottingEndoplasmic reticulumNeurodegenerationAutophagySkeletal muscleSkeletalBiological Sciencesmedicine.diseaseImmunohistochemistryMolecular biologynervous system diseasesmedicine.anatomical_structureInsect ScienceChaperone (protein)biology.proteinMuscleWestern
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Influence of ADAM10 on prion protein processing and scrapie infectiosity in vivo.

2009

Abstract Both the cellular prion protein (PrPc) and the amyloid precursor protein (APP) are physiologically subjected to complex proteolytic processing events. While for APP the proteinases involved – alpha-, beta- and gamma-secretase – have been identified in vitro and in vivo, the cleavage of PrPc by now has been linked only to the shedding activity of the metalloproteinase ADAM10 and/or ADAM17 in cell culture. Here we show that neuronal overexpression of the alpha-secretase ADAM10 in mice reduces all PrPc species detected in the brain instead of leading to enhanced amounts of specific cleavage products of PrPc. Additionally, the incubation time of mice after scrapie infection is signific…

Prionsanimal diseasesADAM10Molecular Sequence DataPrion diseaseScrapieMice Transgeniclcsh:RC321-571ADAM10 ProteinMiceIn vivomental disordersNeurotoxicitymedicineAmyloid precursor proteinAnimalsHumansGliosisAmino Acid Sequencealpha-Secretaselcsh:Neurosciences. Biological psychiatry. NeuropsychiatrySheddingMetalloproteinasebiologyChemistryBrainMembrane ProteinsMolecular biologyIn vitronervous system diseasesMice Inbred C57BLADAM ProteinsNeurologyAlpha secretaseGliosisbiology.proteinCattlemedicine.symptomAmyloid Precursor Protein SecretasesProtein Processing Post-TranslationalScrapieNeurobiology of disease
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