Search results for: Piero Parchi

Items from 1 to 20 out of 53 results

article

Rapidly progressive dementia due to intravascular lymphoma: A prion disease reference center experience

Giuseppe Mario Bentivenga, Simone Baiardi, Lorenzo Righini, Anna Ladogana, more

European Journal of Neurology > 31 > 1 > n/a - n/a

Background Intravascular large B‐cell lymphoma (IVLBCL) is a rare extranodal lymphoma that is characterized by the selective growth of neoplastic cells in blood vessels, representing a potentially treatable cause of rapidly progressive dementia (RPD). Given its diverse clinical and instrumental presentation, it is often misdiagnosed with more common RPD causes, for example, Creutzfeldt‐Jakob disease...

article

Duodenal alpha‐Synuclein Pathology and Enteric Gliosis in Advanced Parkinson's Disease

Aron Emmi, Michele Sandre, Francesco Paolo Russo, Giulia Tombesi, more

Movement Disorders > 38 > 5 > 885 - 894

Background The role of the gut‐brain axis has been recently highlighted as a major contributor to Parkinson's disease (PD) physiopathology, with numerous studies investigating bidirectional transmission of pathological protein aggregates, such as α‐synuclein (αSyn). However, the extent and the characteristics of pathology in the enteric nervous system have not been fully investigated. Objective...

article

Concordance of cerebrospinal fluid real‐time quaking‐induced conversion across the European Creutzfeldt–Jakob Disease Surveillance Network

Neil McKenzie, Gabriele Piconi, Audrey Culeux, Anna‐Lena Hammarin, more

European Journal of Neurology > 29 > 8 > 2431 - 2438

Background and purpose Cerebrospinal fluid (CSF) real‐time quaking‐induced conversion (RT‐QuIC) has a high degree of sensitivity and specificity for the diagnosis of sporadic Creutzfeldt–Jakob disease (sCJD) and this has led to its being included in revised European CJD Surveillance Network diagnostic criteria for sCJD. As CSF RT‐QuIC becomes more widely established, it is crucial that the analytical...

article

RT‐QuIC Detection of Pathological α‐Synuclein in Skin Punches of Patients with Lewy Body Disease

Angela Mammana, Simone Baiardi, Corinne Quadalti, Marcello Rossi, more

Movement Disorders > 36 > 9 > 2173 - 2177

Background Evidence suggests that skin represents a suitable matrix for demonstrating α‐synuclein oligomers as a diagnostic biomarker for Lewy body disease. Objective The objective of this study was to evaluate the diagnostic performance of skin α‐syn real‐time quaking‐induced conversion assay in patients with Lewy body disease. Methods We analyzed skin punches taken in vitam (n = 69) or postmortem...

article

Diagnostic value of surrogate CSF biomarkers for Creutzfeldt–Jakob disease in the era of RT-QuIC

Samir Abu-Rumeileh, Simone Baiardi, Barbara Polischi, Angela Mammana, more

Journal of Neurology > 2019 > 266 > 12 > 3136-3143

Prion real-time quaking-induced conversion (RT-QuIC) is emerging as the most potent assay for the in vivo diagnosis of Creutzfeldt–Jakob disease (CJD), but its full application, especially as a screening test, is limited by suboptimal substrate availability, reagent costs, and incomplete assay standardization. Therefore, the search for the most informative cerebrospinal fluid (CSF) surrogate biomarker...

article

The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins

Marcello Rossi, Hideaki Kai, Simone Baiardi, Anna Bartoletti-Stella, more

Acta Neuropathologica Communications > 2019 > 7 > 1 > 1-13

Current evidence indicating a role of the human prion protein (PrP) in amyloid-beta (Aβ) formation or a synergistic effect between Aβ and prion pathology remains controversial. Conflicting results also concern the frequency of the association between the two protein misfolding disorders and the issue of whether the apolipoprotein E gene (APOE) and the prion protein gene (PRNP), the major modifiers...

article

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

Dorina Tiple, Anna Poleggi, Vittorio Mellina, Antonino Morocutti, more

Acta Neuropathologica Communications > 2019 > 7 > 1 > 1-4

Electronic supplementary material The online version of this article (https://doi.org/10.1186/s40478-019-0699-1) contains supplementary material, which is available to authorized users.

article

Recent advances in the histo‐molecular pathology of human prion disease

Simone Baiardi, Marcello Rossi, Sabina Capellari, Piero Parchi

Brain Pathology > 29 > 2 > 278 - 300

Prion diseases are progressive neurodegenerative disorders affecting humans and other mammalian species. The term prion, originally put forward to propose the concept that a protein could be infectious, refers to PrP^Sc, a misfolded isoform of the cellular prion protein (PrP^C) that represents the pathogenetic hallmark of these disorders. The discovery that other proteins characterized by misfolding...

article

Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease

Anna Bartoletti-Stella, Patrizia Corrado, Nicola Mometto, Simone Baiardi, more

Molecular Neurobiology > 2019 > 56 > 7 > 5009-5024

Functional genomics applied to the study of RNA expression profiles identified several abnormal molecular processes in experimental prion disease. However, only a few similar studies have been carried out to date in a naturally occurring human prion disease. To better characterize the transcriptional cascades associated with sporadic Creutzfeldt-Jakob disease (sCJD), the most common human prion disease,...

article

Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges

Samir Abu‐Rumeileh, Veronica Redaelli, Simone Baiardi, Graeme Mackenzie, more

Annals of Neurology > 84 > 3 > 347 - 360

Objective Comprehensively describe the phenotypic spectrum of sporadic fatal insomnia (sFI) to facilitate diagnosis and management of this rare and peculiar prion disorder. Methods A survey among major prion disease reference centers in Europe identified 13 patients diagnosed with sFI in the past 20 years. We undertook a detailed analysis of clinical and histopathological features and the results...

article

Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein

Brent Race, Katie Williams, Andrew G. Hughson, Casper Jansen, more

Acta Neuropathologica Communications > 2018 > 6 > 1 > 1-16

Human familial prion diseases are associated with mutations at 34 different prion protein (PrP) amino acid residues. However, it is unclear whether infectious prions are found in all cases. Mutant PrP itself may be neurotoxic, or alternatively, PrP mutation might predispose to spontaneous formation of infectious PrP isoforms. Previous reports demonstrated transmission to animal models by human brain...

article

The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias

Samir Abu-Rumeileh, Sabina Capellari, Michelangelo Stanzani-Maserati, Barbara Polischi, more

Alzheimer's Research & Therapy > 2018 > 10 > 1 > 1-11

Background Neurofilament light chain protein (NfL) is a surrogate biomarker of neurodegeneration that has never been systematically tested, either alone or in combination with other biomarkers, in atypical/rapidly progressive neurodegenerative dementias (NDs). Methods Using validated, commercially available enzyme-linked immunosorbent assay kits, we measured cerebrospinal fluid (CSF) NfL, total...

article

Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study

Ignazio Cali, Mark L. Cohen, Stéphane Haїk, Piero Parchi, more

Acta Neuropathologica Communications > 2018 > 6 > 1 > 1-19

The presence of pathology related to the deposition of amyloid-β (Aβ) has been recently reported in iatrogenic Creutzfeldt-Jakob disease (iCJD) acquired from inoculation of growth hormone (GH) extracted from human cadaveric pituitary gland or use of cadaveric dura mater (DM) grafts.To investigate this phenomenon further, a cohort of 27 iCJD cases – 21 with adequate number of histopathological sections...

article

Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature

Marcello Rossi, Daniela Saverioni, Michele Di Bari, Simone Baiardi, more

Acta Neuropathologica Communications > 2017 > 5 > 1 > 1-12

Amyloid plaques formed by abnormal prion protein (PrP^Sc) aggregates occur with low frequency in Creutzfeldt-Jakob disease, but represent a pathological hallmark of three relatively rare disease histotypes, namely variant CJD, sporadic CJDMV2K (methionine/valine at PRNP codon 129, PrP^Sc type 2 and kuru-type amyloid plaques) and iatrogenic CJDMMiK (MM at codon 129, PrP^Sc of intermediate type and kuru...

article

Muscle ceroid lipofuscin‐like deposits in a patient with corticobasal syndrome due to a progranulin mutation

Rossana Terlizzi, Maria Lucia Valentino, Anna Bartoletti‐Stella, Marta Columbaro, more

Movement Disorders > 32 > 8 > 1259 - 1260

article

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Annalisa Pession, more

Journal of Neurology > 2017 > 264 > 7 > 1426-1433

The C9orf72 repeat expansion (RE) is one of the most frequent causative mutations of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, it is still unclear how the C9orf72 RE can lead to a heterogeneous phenotype. Several reports have shown the coexistence of mutations in multiple ALS/FTD causative genes in the same family, suggesting an oligogenic etiology for ALS and...

article

Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt‐Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma

Maria Gabriella Vita, Dorina Tiple, Alessandra Bizzarro, Anna Ladogana, more

Neuropathology > 37 > 2 > 110 - 115

We report a case of rapidly evolving neurological disease in a patient with neuropathological lesions of Creutzfeldt‐Jakob disease (CJD), Lewy body dementia (LBD), chronic subcortical vascular encephalopathy and meningothelial meningioma. The coexistence of severe multiple pathologies in a single patient strengthens the need to perform accurate clinical differential diagnoses in rapidly progressive...

article

Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels

Francesca Lattanzio, Samir Abu-Rumeileh, Alessia Franceschini, Hideaki Kai, more

Acta Neuropathologica > 2017 > 133 > 4 > 559-578

The differential diagnosis of Creutzfeldt-Jakob disease (CJD) from other, sometimes treatable, neurological disorders is challenging, owing to the wide phenotypic heterogeneity of the disease. Real-time quaking-induced prion conversion (RT-QuIC) is a novel ultrasensitive in vitro assay, which, at variance with surrogate neurodegenerative biomarker assays, specifically targets the pathological prion...

article

Cerebrospinal fluid real‐time quaking‐induced conversion is a robust and reliable test for sporadic creutzfeldt–jakob disease: An international study

Lynne I. McGuire, Anna Poleggi, Ilaria Poggiolini, Silvia Suardi, more

Annals of Neurology > 80 > 1 > 160 - 165

Real‐time quaking‐induced conversion (RT‐QuIC) has been proposed as a sensitive diagnostic test for sporadic Creutzfeldt–Jakob disease; however, before this assay can be introduced into clinical practice, its reliability and reproducibility need to be demonstrated. Two international ring trials were undertaken in which a set of 25 cerebrospinal fluid samples were analyzed by a total of 11 different...

article

Neuropathological and biochemical criteria to identify acquired Creutzfeldt‐Jakob disease among presumed sporadic cases

Atsushi Kobayashi, Piero Parchi, Masahito Yamada, Shirou Mohri, more

Neuropathology > 36 > 3 > 305 - 310

As an experimental model of acquired Creutzfeldt‐Jakob disease (CJD), we performed transmission studies of sporadic CJD using knock‐in mice expressing human prion protein (PrP). In this model, the inoculation of the sporadic CJD strain V2 into animals homozygous for methionine at polymorphic codon 129 (129 M/M) of the PRNP gene produced quite distinctive neuropathological and biochemical features,...

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INFONA - science communication portal

Search results for: Piero Parchi

Rapidly progressive dementia due to intravascular lymphoma: A prion disease reference center experience

Duodenal alpha‐Synuclein Pathology and Enteric Gliosis in Advanced Parkinson's Disease

Concordance of cerebrospinal fluid real‐time quaking‐induced conversion across the European Creutzfeldt–Jakob Disease Surveillance Network

RT‐QuIC Detection of Pathological α‐Synuclein in Skin Punches of Patients with Lewy Body Disease

Diagnostic value of surrogate CSF biomarkers for Creutzfeldt–Jakob disease in the era of RT-QuIC

The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins

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

Recent advances in the histo‐molecular pathology of human prion disease

Analysis of RNA Expression Profiles Identifies Dysregulated Vesicle Trafficking Pathways in Creutzfeldt-Jakob Disease

Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges

Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein

The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias

Iatrogenic Creutzfeldt-Jakob disease with Amyloid-β pathology: an international study

Atypical Creutzfeldt-Jakob disease with PrP-amyloid plaques in white matter: molecular characterization and transmission to bank voles show the M1 strain signature

Muscle ceroid lipofuscin‐like deposits in a patient with corticobasal syndrome due to a progranulin mutation

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt‐Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma

Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels

Cerebrospinal fluid real‐time quaking‐induced conversion is a robust and reliable test for sporadic creutzfeldt–jakob disease: An international study

Neuropathological and biochemical criteria to identify acquired Creutzfeldt‐Jakob disease among presumed sporadic cases

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