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Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease.

Peter Hermann, Brian Appleby, Jean-Philippe Brandel, Byron Caughey, Steven Collins, Michael D Geschwind, Alison Green, Stephane Haïk, Gabor G Kovacs, Anna Ladogana, Franc Llorens, Simon Mead, Noriyuki Nishida, Suvankar Pal, Piero Parchi, Maurizio Pocchiari, Katsuya Satoh, Gianluigi Zanusso, Inga Zerr,

Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrP<sup>Sc</sup>). Effective therapeutics are currently not available and accurate diagnosis can be challenging. Clinical diagnostic criteria use a combination of characteristic neuropsychiatric symptoms, CSF proteins 14-3-3, MRI, and EEG. Supportive biomarkers, such as high CSF total tau, ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):235-246]

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Ring trial of 2nd generation RT-QuIC diagnostic tests for sporadic CJD.

Christina D Orrú, Bradley R Groveman, Aaron Foutz, Matilde Bongianni, Franco Cardone, Neil McKenzie, Audrey Culeux, Anna Poleggi, Katarina Grznarova, Daniela Perra, Michele Fiorini, Xiaoqin Liu, Anna Ladogana, Marco Sbriccoli, Andrew G Hughson, Stéphane Haïk, Alison J Green, Michael D Geschwind, Maurizio Pocchiari, Jiri G Safar, Gianluigi Zanusso, Byron Caughey,

<h4>Objective</h4>Real-time quaking-induced conversion (RT-QuIC) assays detect prion-seeding activity in a variety of human biospecimens, including cerebrospinal fluid and olfactory mucosa swabs. The assay has shown high diagnostic accuracy in patients with prion disorders. Recently, advances in these tests have led to markedly improved diagnostic sensitivity and reduced assay times. Accordingly, ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(11):2262-2271]

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Comparison between plasma and cerebrospinal fluid biomarkers for the early diagnosis and association with survival in prion disease.

Samir Abu-Rumeileh, Simone Baiardi, Anna Ladogana, Corrado Zenesini, Anna Bartoletti-Stella, Anna Poleggi, Angela Mammana, Barbara Polischi, Maurizio Pocchiari, Sabina Capellari, Piero Parchi,

<h4>Objective</h4>To compare the diagnostic accuracy and the prognostic value of blood and cerebrospinal fluid (CSF) tests across prion disease subtypes.<h4>Methods</h4>We used a single-molecule immunoassay to measure tau and neurofilament light chain (NfL) protein levels in the plasma and assessed CSF total(t)-tau, NfL and protein 14-3-3 levels in patients with prion ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2020, 91(11):1181-1188]

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Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

Emma Jones, Holger Hummerich, Emmanuelle Viré, James Uphill, Athanasios Dimitriadis, Helen Speedy, Tracy Campbell, Penny Norsworthy, Liam Quinn, Jerome Whitfield, Jacqueline Linehan, Zane Jaunmuktane, Sebastian Brandner, Parmjit Jat, Akin Nihat, Tze How Mok, Parvin Ahmed, Steven Collins, Christiane Stehmann, Shannon Sarros, Gabor G Kovacs, Michael D Geschwind, Aili Golubjatnikov, Karl Frontzek, Herbert Budka, Adriano Aguzzi, Hata Karamujić-Čomić, Sven J van der Lee, Carla A Ibrahim-Verbaas, Cornelia M van Duijn, Beata Sikorska, Ewa Golanska, Pawel P Liberski, Miguel Calero, Olga Calero, Pascual Sanchez-Juan, Antonio Salas, Federico Martinón-Torres, Elodie Bouaziz-Amar, Stéphane Haïk, Jean-Louis Laplanche, Jean-Phillipe Brandel, Phillipe Amouyel, Jean-Charles Lambert, Piero Parchi, Anna Bartoletti-Stella, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Serena Aneli, Giuseppe Matullo, Richard Knight, Saima Zafar, Inga Zerr, Stephanie Booth, Michael B Coulthart, Gerard H Jansen, Katie Glisic, Janis Blevins, Pierluigi Gambetti, Jiri Safar, Brian Appleby, John Collinge, Simon Mead,

<h4>Background</h4>Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the PRNP gene that encodes prion protein are strong risk factors for sCJD but, although the condition has similar heritability to other neurodegenerative disorders, no other genetic risk loci ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2020, 19(10):840-848]

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Transmission of CJD from nasal brushings but not spinal fluid or RT-QuIC product.

Gregory J Raymond, Brent Race, Christina D Orrú, Lynne D Raymond, Matilde Bongianni, Michele Fiorini, Bradley R Groveman, Sergio Ferrari, Luca Sacchetto, Andrew G Hughson, Salvatore Monaco, Maurizio Pocchiari, Gianluigi Zanusso, Byron Caughey,

<h4>Objective</h4>The detection of prion seeding activity in CSF and olfactory mucosal brushings using real-time quaking-induced conversion assays allows highly accurate clinical diagnosis of sporadic Creutzfeldt-Jakob disease. To gauge transmission risks associated with these biospecimens and their testing, we have bioassayed prion infectivity levels in patients' brain tissue, nasal brushings, and ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(6):932-944]

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Genome-wide association study identifies risk variants for sporadic Creutzfeldt-Jakob disease in STX6 and GAL3ST1

Emma Jones, Holger Hummerich, Emmanuelle Viré, James Uphill, Athanasios Dimitriadis, Helen Speedy, Tracy Campbell, Penny Norsworthy, Liam Quinn, Jerome Whitfield, Jacqueline Linehan, Zane Jaunmuktane, Sebastian Brandner, Parmjit Jat, Akin Nihat, Tze How Mok, Parvin Ahmed, Steven Collins, Christiane Stehmann, Shannon Sarros, Gabor Kovacs, Michael Geschwind, Aili Golubjatnikov, Karl Fronztek, Herbert Budka, Adriano Aguzzi, Hata Karamujić-Čomić, Sven van der Lee, Carla Ibrahim-Verbaas, Cornelia Van Duijn, Beata Sikorska, Ewa Golanska, Pawel Liberski, Miguel Calero, Olga Calero, Pascual Sanchez Juan, Antonio Salas, Federico Martinón-Torres, Elodie Bouaziz-Amar, Stephane Haik, Jean-Louis Laplanche, Jean-Phillipe Brandel, Phillipe Amouyel, Jean-Charles Lambert, Piero Parchi, Anna Bartoletti-Stella, Sabina Capellari, Anna Poleggi, Anna Ladogana, Maurizio Pocchiari, Serena Aneli, Giuseppe Matullo, Richard Knight, Saima Zafar, Inga Zerr, Stephanie Booth, Michael Coulthart, Gerard Jansen, Katie Glisic, Janis Blevins, Pierluigi Gambetti, Jiri Safar, Brian Appleby, John Collinge, Simon Mead,

Mammalian prions are lethal pathogens composed of fibrillar assemblies of misfolded prion protein. Human prion diseases are rare and usually rapidly fatal neurodegenerative disorders, the most common being sporadic Creutzfeldt-Jakob disease (sCJD). Variants in the gene that encodes prion protein ( PRNP ) are strong risk factors for sCJD, but ... Read more >>

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Diagnostic Accuracy of Prion Disease Biomarkers in Iatrogenic Creutzfeldt-Jakob Disease.

Franc Llorens, Anna Villar-Piqué, Peter Hermann, Matthias Schmitz, Olga Calero, Christiane Stehmann, Shannon Sarros, Fabio Moda, Isidre Ferrer, Anna Poleggi, Maurizio Pocchiari, Marcella Catania, Sigrid Klotz, Carl O'Regan, Francesca Brett, Josephine Heffernan, Anna Ladogana, Steven J Collins, Miguel Calero, Gabor G Kovacs, Inga Zerr,

Human prion diseases are classified into sporadic, genetic, and acquired forms. Within this last group, iatrogenic Creutzfeldt-Jakob disease (iCJD) is caused by human-to-human transmission through surgical and medical procedures. After reaching an incidence peak in the 1990s, it is believed that the iCJD historical period is probably coming to an ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(2):]

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Neurofilaments in blood is a new promising preclinical biomarker for the screening of natural scrapie in sheep.

Henrik Zetterberg, Elena Bozzetta, Alessandra Favole, Cristiano Corona, Maria Concetta Cavarretta, Francesco Ingravalle, Kaj Blennow, Maurizio Pocchiari, Daniela Meloni,

Scrapie is a fatal neurodegenerative disease of sheep and goats belonging to the group of Transmissible Spongiform Encephalopathy or prion diseases. The EU has adopted mandatory measures for scrapie surveillance to safeguard public and animal health because it is highly contagious and might decimate all genetic susceptible animals in affected ... Read more >>

PLoS One (PloS one)
[2019, 14(12):e0226697]

Cited: 2 times

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α-Synuclein RT-QuIC assay in cerebrospinal fluid of patients with dementia with Lewy bodies.

Matilde Bongianni, Anna Ladogana, Stefano Capaldi, Sigrid Klotz, Simone Baiardi, Annachiara Cagnin, Daniela Perra, Michele Fiorini, Anna Poleggi, Giuseppe Legname, Tatiana Cattaruzza, Francesco Janes, Massimo Tabaton, Bernardino Ghetti, Salvatore Monaco, Gabor G Kovacs, Piero Parchi, Maurizio Pocchiari, Gianluigi Zanusso,

We applied RT-QuIC assay to detect α-synuclein aggregates in cerebrospinal fluid (CSF) of patients with suspected Creutzfeldt-Jakob disease who had a neuropathological diagnosis of dementia with Lewy bodies (DLB) (n = 7), other neurodegenerative diseases with α-synuclein mixed pathology (n = 20), or without Lewy-related pathology (n = 49). The test had a sensitivity of 92.9% ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2019, 6(10):2120-2126]

Cited: 5 times

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Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients.

Inga Zerr, Anna Villar-Piqué, Vanda Edit Schmitz, Anna Poleggi, Maurizio Pocchiari, Raquel Sánchez-Valle, Miguel Calero, Olga Calero, Inês Baldeiras, Isabel Santana, Gabor G Kovacs, Franc Llorens, Matthias Schmitz,

The exploration of accurate diagnostic markers for differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous study on cerebrospinal fluid (CSF)-mitochondrial malate dehydrogenase 1 (MDH1) in sporadic Creutzfeldt-Jakob disease (sCJD) patients revealed a highly significant upregulation of MDH1. Here, we measured the CSF levels of MDH1 via enzyme-linked ... Read more >>

Biomolecules (Biomolecules)
[2019, 9(12):]

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Spatial Epidemiology of Sporadic Creutzfeldt-Jakob Disease in Apulia, Italy.

Maria Puopolo, Dolores Catelan, Sabina Capellari, Anna Ladogana, Antonio Sanguedolce, Alberto Fedele, Valerio Aprile, Giuseppa Lucia Turco, Elisa Colaizzo, Dorina Tiple, Luana Vaianella, Piero Parchi, Annibale Biggeri, Maurizio Pocchiari,

<h4>Background</h4>Sporadic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disease caused by prions that is randomly distributed in all countries, with an overall yearly mortality rate of about 1-2 cases per million people. On a few occasions, however, sporadic CJD occurred with higher than expected rates, but further investigations failed to ... Read more >>

Neuroepidemiology (Neuroepidemiology)
[2020, 54(1):83-90]

Cited: 1 time

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

Dorina Tiple, Anna Poleggi, Vittorio Mellina, Antonino Morocutti, Livia Brusa, Cesare Iani, Elisa Colaizzo, Luana Vaianella, Simone Baiardi, Anna Ladogana, Piero Parchi, Maurizio Pocchiari,

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):47]

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Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Giuseppe Di Fede, Marcella Catania, Cristiana Atzori, Fabio Moda, Claudio Pasquali, Antonio Indaco, Marina Grisoli, Marta Zuffi, Maria Cristina Guaita, Roberto Testi, Stefano Taraglio, Maria Sessa, Graziano Gusmaroli, Mariacarmela Spinelli, Giulia Salzano, Giuseppe Legname, Roberto Tarletti, Laura Godi, Maurizio Pocchiari, Fabrizio Tagliavini, Daniele Imperiale, Giorgio Giaccone,

Prion diseases are neurodegenerative disorders which are caused by an accumulation of the abnormal, misfolded prion protein known as scrapie prion protein (PrP<sup>Sc</sup>). These disorders are unique as they occur as sporadic, genetic and acquired forms. Sporadic Creutzfeldt-Jakob Disease (CJD) is the most common human prion disease, accounting for approximately ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):1]

Cited: 4 times

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Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.

Anna Villar-Piqué, Matthias Schmitz, Ingolf Lachmann, André Karch, Olga Calero, Christiane Stehmann, Shannon Sarros, Anna Ladogana, Anna Poleggi, Isabel Santana, Isidre Ferrer, Eva Mitrova, Dana Žáková, Maurizio Pocchiari, Inês Baldeiras, Miguel Calero, Steven J Collins, Michael D Geschwind, Raquel Sánchez-Valle, Inga Zerr, Franc Llorens,

Cerebrospinal fluid (CSF) total prion protein (t-PrP) is decreased in sporadic Creutzfeldt-Jakob disease (sCJD). However, data on the comparative signatures of t-PrP across the spectrum of prion diseases, longitudinal changes during disease progression, and levels in pre-clinical cases are scarce. T-PrP was quantified in neurological diseases (ND, n = 147) and in ... Read more >>

Mol Neurobiol (Molecular neurobiology)
[2019, 56(4):2811-2821]

Cited: 3 times

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Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene.

Anna Poleggi, Sven van der Lee, Sabina Capellari, Maria Puopolo, Anna Ladogana, Eleonora De Pascali, Debora Lia, Alessia Formato, Anna Bartoletti-Stella, Piero Parchi, Cornelia van Duijn, Maurizio Pocchiari,

<h4>Objectives</h4>The Glu to Lys change at codon 200 (E200K) of the <i>PRNP</i> gene is the most frequent mutation associated to genetic Creutzfeldt-Jakob disease (CJD) and the only one responsible for geographical clusters. Patients carrying this mutation develop disease at different ages and show variable clinical phenotypes that are not affected ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2018, 89(12):1243-1249]

Cited: 3 times

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Preface.

Maurizio Pocchiari, Jean Manson,

Handb Clin Neurol (Handbook of clinical neurology)
[2018, 153:ix]

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Concluding remarks.

Maurizio Pocchiari, Jean Manson,

This is the first volume of the Handbook of Clinical Neurology totally devoted to prion diseases. The reason for this choice is to inform neurologists and neuroscientists about the remarkable advances that this field has made in the diagnosis of human and animal prion diseases, understanding the pathogenesis of disease, ... Read more >>

Handb Clin Neurol (Handbook of clinical neurology)
[2018, 153:485-488]

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

Ignazio Cali, Mark L Cohen, Stephane Haik, Piero Parchi, Giorgio Giaccone, Steven J Collins, Diane Kofskey, Han Wang, Catriona A McLean, Jean-Philippe Brandel, Nicolas Privat, Véronique Sazdovitch, Charles Duyckaerts, Tetsuyuki Kitamoto, Ermias D Belay, Ryan A Maddox, Fabrizio Tagliavini, Maurizio Pocchiari, Ellen Leschek, Brian S Appleby, Jiri G Safar, Lawrence B Schonberger, Pierluigi Gambetti,

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 ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2018, 6(1):5]

Cited: 30 times

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Towards an early clinical diagnosis of sporadic CJD VV2 (ataxic type).

Simone Baiardi, Anna Magherini, Sabina Capellari, Veronica Redaelli, Anna Ladogana, Marcello Rossi, Fabrizio Tagliavini, Maurizio Pocchiari, Giorgio Giaccone, Piero Parchi,

<h4>Introduction</h4>Sporadic Creutzfeldt-Jakob disease (sCJD) includes a broad spectrum of clinical-pathological subtypes, which complicates the clinical differential diagnosis with other rapidly progressive neurological syndromes.<h4>Aim</h4>To provide a better characterisation of clinical features and results of diagnostic investigations, especially at an early disease stage, in patients with sCJDVV2, the second most common sCJD ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2017, 88(9):764-772]

Cited: 9 times

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Prion Strain Characterization of a Novel Subtype of Creutzfeldt-Jakob Disease.

Roberta Galeno, Michele Angelo Di Bari, Romolo Nonno, Franco Cardone, Marco Sbriccoli, Silvia Graziano, Loredana Ingrosso, Michele Fiorini, Angelina Valanzano, Giulia Pasini, Anna Poleggi, Ramona Vinci, Anna Ladogana, Maria Puopolo, Salvatore Monaco, Umberto Agrimi, Gianluigi Zanusso, Maurizio Pocchiari,

In 2007, we reported a patient with an atypical form of Creutzfeldt-Jakob disease (CJD) heterozygous for methionine-valine (MV) at codon 129 who showed a novel pathological prion protein (PrP<sup>TSE</sup>) conformation with an atypical glycoform (AG) profile and intraneuronal PrP deposition. In the present study, we further characterize the conformational properties ... Read more >>

J Virol (Journal of virology)
[2017, 91(11):]

Cited: 5 times

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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, Giulia Amore, Ilaria Poggiolini, Marcello Rossi, Simone Baiardi, Lynne McGuire, Anna Ladogana, Maurizio Pocchiari, Alison Green, Sabina Capellari, Piero Parchi,

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 protein ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2017, 133(4):559-578]

Cited: 39 times

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Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples.

Matilde Bongianni, Christina Orrù, Bradley R Groveman, Luca Sacchetto, Michele Fiorini, Giovanni Tonoli, Giorgio Triva, Stefano Capaldi, Silvia Testi, Sergio Ferrari, Annachiara Cagnin, Anna Ladogana, Anna Poleggi, Elisa Colaizzo, Dorina Tiple, Luana Vaianella, Santina Castriciano, Daniele Marchioni, Andrew G Hughson, Daniele Imperiale, Tatiana Cattaruzza, Gian Maria Fabrizi, Maurizio Pocchiari, Salvatore Monaco, Byron Caughey, Gianluigi Zanusso,

<h4>Importance</h4>Early and accurate in vivo diagnosis of Creutzfeldt-Jakob disease (CJD) is necessary for quickly distinguishing treatable from untreatable rapidly progressive dementias and for future therapeutic trials. This early diagnosis is becoming possible using the real-time quaking-induced conversion (RT-QuIC) seeding assay, which detects minute amounts of the disease-specific pathologic prion protein ... Read more >>

JAMA Neurol (JAMA neurology)
[2017, 74(2):155-162]

Cited: 52 times

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Extended and direct evaluation of RT-QuIC assays for Creutzfeldt-Jakob disease diagnosis.

Bradley R Groveman, Christina D Orrú, Andrew G Hughson, Matilde Bongianni, Michele Fiorini, Daniele Imperiale, Anna Ladogana, Maurizio Pocchiari, Gianluigi Zanusso, Byron Caughey,

Real-Time Quaking-Induced Conversion (RT-QuIC) testing of human cerebrospinal fluid (CSF) is highly sensitive and specific in discriminating sporadic CJD patients from those without prion disease. Here, using CSF samples from 113 CJD and 64 non-prion disease patients, we provide the first direct and concurrent comparison of our improved RT-QuIC assay ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2017, 4(2):139-144]

Cited: 19 times

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Pathogenesis and Transmission of Classical and Atypical BSE in Cattle.

Elena Vallino Costassa, Barbara Iulini, Maria Mazza, Pierluigi Acutis, Cristiana Maurella, Daniela Meloni, Alessandra Pautasso, Lorenzo Capucci, Elena Bozzetta, Marion M Simmons, Gianluigi Zanusso, Maurizio Pocchiari, Cristiano Corona, Cristina Casalone,

Many mammalian species can be affected by prion diseases, also known as transmissible spongiform encephalopathies (TSEs). "Classical" bovine spongiform encephalopathy (C-BSE) was the first prion disease recognized in cattle and it is the only known zoonotic prion disease, having caused variant Creutzfeldt-Jakob disease (vCJD) in humans. Based on the biochemical ... Read more >>

Food Saf (Tokyo) (Food safety (Tokyo, Japan))
[2016, 4(4):130-134]

Cited: 2 times

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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, Elisa Colaizzo, Sabina Capellari, Marcello Rossi, Piero Parchi, Carlo Masullo, Maurizio Pocchiari,

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 ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2017, 37(2):110-115]

Cited: 1 time

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