0000000000881021

AUTHOR

Alberto Bizzi

0000-0002-0253-5274

showing 2 related works from this author

Mathematical models for the diffusion magnetic resonance signal abnormality in patients with prion diseases

2014

In clinical practice signal hyperintensity in the cortex and/or in the striatum on magnetic resonance (MR) diffusion-weighted images (DWIs) is a marker of sporadic Creutzfeldt–Jakob Disease (sCJD). MR diagnostic accuracy is greater than 90%, but the biophysical mechanisms underpinning the signal abnormality are unknown. The aim of this prospective study is to combine an advanced DWI protocol with new mathematical models of the microstructural changes occurring in prion disease patients to investigate the cause of MR signal alterations. This underpins the later development of more sensitive and specific image-based biomarkers. DWI data with a wide a range of echo times and diffusion weightin…

MalePathologysCJD sporadic Creutzfeldt–Jakob diseaseROI region of interestPrion diseasePrPSc prion protein scrapieElectroencephalographyFOV field of viewlcsh:RC346-429Prion DiseasesADC apparent diffusion coefficientTI inversion timeRPE rapidly progressive encephalopathyAged 80 and overTE echo timeBrain Mappingmedicine.diagnostic_testBrainRegular ArticleMiddle AgedBIC Bayesian information criterionTR repetition timemedicine.anatomical_structureNeurologylcsh:R858-859.7FemaleMPRAGE magnetization-prepared rapid acquisition gradient-echoAbnormalitySS-SE single shot spin-echoAdultmedicine.medical_specialtyCognitive NeuroscienceCreutzfeldt–Jakob diseaseCNR contrast to noise ratioEPI echo-planar imagingNeuropathologyPrPC prion protein cellularGrey matterSpongiform degenerationlcsh:Computer applications to medicine. Medical informaticsEEG electroencephalogramDiffusion MRINeuroimagingImage Interpretation Computer-AssistedmedicineHumansRadiology Nuclear Medicine and imaginglcsh:Neurology. Diseases of the nervous systemAgedCJD Creutzfeldt–Jakob diseaseGSS Gerstmann–Sträussler–Scheinker syndromebusiness.industryDWI diffusion weighted imagingDiffusion MRI; Biophysical models; Creutzfeldt-Jakob disease; Prion disease; Spongiform degenerationMagnetic resonance imagingModels TheoreticalHyperintensityCreutzfeldt-Jakob diseaseDiffusion Magnetic Resonance ImagingNeurology (clinical)businessBiophysical modelsDiffusion MRINeuroImage: Clinical
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Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP

2010

Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. Design Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic examination was performed in 2 subjects. Setting Southern Lombardy, Italy. Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37). Main Outcome Measure Genotype-phenotype relationship. Results The affected individuals presented with recurrent headach…

MalePathologymedicine.medical_specialtySubarachnoid hemorrhageGenotypeApolipoprotein E4Glutamic AcidNeuropathologyAmyloid beta-Protein PrecursorGene FrequencyArts and Humanities (miscellaneous)medicineHumansGenetic Predisposition to DiseaseCognitive declineAgedCerebral HemorrhageFamily HealthAmyloid beta-Peptidesbusiness.industryLysineAmyloidosisLeukoaraiosisAutosomal dominant traitMiddle Agedmedicine.diseaseMagnetic Resonance ImagingPeptide FragmentsItalyHemosiderinMutationHereditary cerebral hemorrhage with amyloidosisFemaleNeurology (clinical)businessAmyloidosis FamilialGenome-Wide Association Study
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