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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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Early sensory disturbances and seizures are common manifestations of familial Creutzfeldt-Jakob disease due to E200K PRNP mutation: Case report from two Peruvian families.

Elison Sarapura-Castro, Carlos Cosentino, Jonathan Landman, Avi Landman, Luis Torres, Yesenia Nuñez, Sabina Capellari, Piero Parchi, Mario Cornejo-Olivas,

Clin Neurol Neurosurg (Clinical neurology and neurosurgery)
[2021, 202:106490]

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Anterior callosal angle correlates with gait impairment and fall risk in iNPH patients.

Paolo Mantovani, Giulia Giannini, David Milletti, Sabina Cevoli, Nicola Valsecchi, Laura Ludovica Gramegna, Luca Albini-Riccioli, Carmelo Sturiale, Pietro Cortelli, Giuseppe Lanzino, Benjamin D Elder, Giorgio Palandri, ,

<h4>Background</h4>In idiopathic normal pressure hydrocephalus (iNPH), gait and balance impairment is the most frequent symptom, and it is often associated with a higher fall risk. In a prior study, the anterior callosal angle (ACA) was validated as a reliable marker to discriminate iNPH from Alzheimer's disease and healthy controls. However, ... Read more >>

Acta Neurochir (Wien) (Acta neurochirurgica)
[2021, 163(3):759-766]

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Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers.

Elisabetta Zucchi, Valentina Bonetto, Gianni Sorarù, Ilaria Martinelli, Piero Parchi, Rocco Liguori, Jessica Mandrioli,

Motor neuron diseases (MNDs) are etiologically and biologically heterogeneous diseases. The pathobiology of motor neuron degeneration is still largely unknown, and no effective therapy is available. Heterogeneity and lack of specific disease biomarkers have been appointed as leading reasons for past clinical trial failure, and biomarker discovery is pivotal in ... Read more >>

Mol Neurodegener (Molecular neurodegeneration)
[2020, 15(1):58]

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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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Towards an improved early diagnosis of neurodegenerative diseases: the emerging role of in vitro conversion assays for protein amyloids.

Niccolò Candelise, Simone Baiardi, Alessia Franceschini, Marcello Rossi, Piero Parchi,

Tissue accumulation of abnormal aggregates of amyloidogenic proteins such as prion protein, α-synuclein, and tau represents the hallmark of most common neurodegenerative disorders and precedes the onset of symptoms by years. As a consequence, the sensitive and specific detection of abnormal forms of these proteins in patients' accessible tissues or fluids ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2020, 8(1):117]

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Correction to: Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies.

Marcello Rossi, Niccolò Candelise, Simone Baiardi, Sabina Capellari, Giulia Giannini, Christina D Orrù, Elena Antelmi, Angela Mammana, Andrew G Hughson, Giovanna Calandra-Buonaura, Anna Ladogana, Giuseppe Plazzi, Pietro Cortelli, Byron Caughey, Piero Parchi,

he article Ultrasensitive RT‑QuIC assay with high sensitivity and specificity for Lewy body‑. ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 140(2):245]

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Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.

Marta Melis, Andrea Molari, Gianluca Floris, Sarah Vascellari, Luisa Balestrino, Anna Ladogana, Anna Poleggi, Piero Parchi, Giovanni Cossu, Maurizio Melis, Sandro Orrù, Giovanni Defazio,

In genetic prion diseases (gPrD), five genetic variants (E200K, V210I, V180I, P102L, and D178N) are responsible for about 85% of cases. The R208H is one of the several additional rare mutations and to date, only 16 cases carrying this mutation have been reported worldwide. To describe the phenotypic features of ... Read more >>

Neurogenetics (Neurogenetics)
[2020, 21(4):251-257]

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Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.

Anna Bartoletti-Stella, Silvia De Pasqua, Simone Baiardi, Ilaria Bartolomei, Giacomo Mengozzi, Giuseppe Orio, Francesca Pastorelli, Silvia Piras, Roberto Poda, Alberto Raggi, Michelangelo Stanzani Maserati, Martina Tarozzi, Rocco Liguori, Fabrizio Salvi, Piero Parchi, Sabina Capellari,

Loss-of-function mutations in the gene encoding for the protein progranulin (PGRN), GRN, are one of the major genetic abnormalities involved in frontotemporal lobar degeneration. However, genetic variations, mainly missense, in GRN have also been linked to other neurodegenerative diseases. We found 12 different pathogenic/likely pathogenic variants in 21 patients identified ... Read more >>

Neurobiol Aging (Neurobiology of aging)
[2021, 97:145.e7-145.e15]

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Anterior Callosal Angle: A New Marker of Idiopathic Normal Pressure Hydrocephalus?

Paolo Mantovani, Luca Albini-Riccioli, Giulia Giannini, David Milletti, Thomas J Sorenson, Michelangelo Stanzani-Maserati, Federico Oppi, Benjamin D Elder, Sabina Cevoli, Pietro Cortelli, Giorgio Palandri, ,

<h4>Objective</h4>Diagnosing idiopathic normal pressure hydrocephalus (iNPH) still remains a clinical challenge. The callosal angle (CA) is a widely used neuroradiologic marker for iNPH. However, the relationship of the CA to clinical features has not been well investigated. We hypothesize that iNPH symptoms might better correlate with a variant of the ... Read more >>

World Neurosurg (World neurosurgery)
[2020, 139:e548-e552]

Cited: 3 times

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First case of an UBQLN2 gene mutation causing frontotemporal dementia preceded by adult onset psychiatric symptoms.

Alberto Raggi, Anna Bartoletti-Stella, Piero Parchi, Sabina Capellari,

Recently, mutations in genes related to frontotemporal dementia and/or amyotrophic lateral sclerosis have been described as the cause of late onset psychosis. Here, we report a 68-year-old patient, carrier of a mutation in the gene encoding ubiquilin-2 (UBQLN2), who presented adult onset psychotic manifestations followed by a dysexecutive syndrome compatible ... Read more >>

Amyotroph Lateral Scler Frontotemporal Degener (Amyotrophic lateral sclerosis & frontotemporal degeneration)
[2020, 21(5-6):467-469]

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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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Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies.

Marcello Rossi, Niccolò Candelise, Simone Baiardi, Sabina Capellari, Giulia Giannini, Christina D Orrù, Elena Antelmi, Angela Mammana, Andrew G Hughson, Giovanna Calandra-Buonaura, Anna Ladogana, Giuseppe Plazzi, Pietro Cortelli, Byron Caughey, Piero Parchi,

The clinical diagnosis of synucleinopathies, including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA), is challenging, especially at an early disease stage, due to the heterogeneous and often non-specific clinical manifestations. The discovery of reliable specific markers for synucleinopathies would consequently be of great aid ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 140(1):49-62]

Cited: 2 times

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Detection of prions in skin punch biopsies of Creutzfeldt-Jakob disease patients.

Angela Mammana, Simone Baiardi, Marcello Rossi, Alessia Franceschini, Vincenzo Donadio, Sabina Capellari, Byron Caughey, Piero Parchi,

Prion real-time quaking-induced conversion (RT-QuIC) is an ultrasensitive assay detecting pathological aggregates of misfolded prion protein in biospecimens. We studied 71 punch biopsy skin samples of 35 patients with Creutzfeldt-Jakob disease (CJD), including five assessed in vitam. The results confirmed the high value of skin prion RT-QuIC for CJD diagnosis ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(4):559-564]

Cited: 4 times

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The Bologna motor and non-motor prospective study on parkinsonism at onset (BoProPark): study design and population.

Giovanna Calandra-Buonaura, Luisa Sambati, Francesca Baschieri, Maria Vitiello, Manuela Contin, Caterina Tonon, Sabina Capellari, Federica Provini, Pietro Cortelli, ,

<h4>Objective</h4>The Bologna motor and non-motor prospective study on parkinsonism at onset (BoProPark) was designed to prospectively characterize motor and non-motor features in patients with a progressive neurodegenerative disease starting with parkinsonism since early disease stage and to investigate their diagnostic and prognostic role in the differential diagnosis of Parkinson's disease ... Read more >>

Neurol Sci (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology)
[2020, 41(9):2531-2537]

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CSF Ubiquitin Levels Are Higher in Alzheimer's Disease than in Frontotemporal Dementia and Reflect the Molecular Subtype in Prion Disease.

Samir Abu-Rumeileh, Patrick Oeckl, Simone Baiardi, Steffen Halbgebauer, Petra Steinacker, Sabina Capellari, Markus Otto, Piero Parchi,

Disturbances in the ubiquitin-proteasome system seem to play a role in neurodegenerative dementias (NDs). Previous studies documented an increase of cerebrospinal fluid (CSF) free monoubiquitin in Alzheimer's disease (AD) and Creutzfeldt-Jakob disease (CJD). However, to date, no study explored this biomarker across the heterogeneous spectrum of prion disease. Using a ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(4):]

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Diagnostic-prognostic value and electrophysiological correlates of CSF biomarkers of neurodegeneration and neuroinflammation in amyotrophic lateral sclerosis.

Samir Abu-Rumeileh, Veria Vacchiano, Corrado Zenesini, Barbara Polischi, Silvia de Pasqua, Enrico Fileccia, Angela Mammana, Vitantonio Di Stasi, Sabina Capellari, Fabrizio Salvi, Rocco Liguori, Piero Parchi, ,

Neurofilament light chain protein (NfL) is currently the most accurate cerebrospinal fluid (CSF) biomarker in amyotrophic lateral sclerosis (ALS) in terms of both diagnostic and prognostic value, but the mechanism underlying its increase is still a matter of debate. Similarly, emerging CSF biomarkers of neurodegeneration and neuroinflammation showed promising results, ... Read more >>

J Neurol (Journal of neurology)
[2020, 267(6):1699-1708]

Cited: 2 times

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Cerebrospinal fluid biomarkers of neurodegeneration in narcolepsy type 1.

Simone Baiardi, Fabio Pizza, Barbara Polischi, Monica Moresco, Samir Abu-Rumeileh, Giuseppe Plazzi, Piero Parchi,

STUDY OBJECTIVES:To measure the levels of five neurodegenerative biomarkers in the cerebrospinal fluid (CSF) of patients with narcolepsy type 1 (NT1) with variable disease duration. METHODS:Following a standardized protocol of CSF collection and storage, we measured CSF total- and phosphorylated-tau, amyloid-beta 1-40 and 1-42, and neurofilament light chain (NfL) proteins ... Read more >>

Sleep (Sleep)
[2020, 43(2):]

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Gerstmann-Sträussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism.

Simone Baiardi, Romana Rizzi, Sabina Capellari, Anna Bartoletti-Stella, Andrea Zangrandi, Federico Gasparini, Enrico Ghidoni, Piero Parchi,

Neurol Genet (Neurology. Genetics)
[2020, 6(2):e400]

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CSF SerpinA1 in Creutzfeldt-Jakob disease and frontotemporal lobar degeneration.

Samir Abu-Rumeileh, Steffen Halbgebauer, Petra Steinacker, Sarah Anderl-Straub, Barbara Polischi, Albert C Ludolph, Sabina Capellari, Piero Parchi, Markus Otto,

OBJECTIVE:SerpinA1 (alpha-1 antitrypsin) is an acute inflammatory protein, which seems to play a role in neurodegeneration and neuroinflammation. In Alzheimer's disease and synucleinopathies, SerpinA1 is overexpressed in the brain and the cerebrospinal fluid (CSF) showing abnormal patterns of its charge isoforms. To date, no comprehensive studies explored SerpinA1 CSF isoforms in ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(2):191-199]

Cited: 1 time

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Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.

Eri Saijo, Michael A Metrick, Shunsuke Koga, Piero Parchi, Irene Litvan, Salvatore Spina, Adam Boxer, Julio C Rojas, Douglas Galasko, Allison Kraus, Marcello Rossi, Kathy Newell, Gianluigi Zanusso, Lea T Grinberg, William W Seeley, Bernardino Ghetti, Dennis W Dickson, Byron Caughey,

The original version of this article unfortunately contained a mistake. The Panel A in the published figure 5 is incorrect. The corrected Figure 5 is placed in the following page. ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 139(1):79-81]

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CSF biomarkers of neuroinflammation in distinct forms and subtypes of neurodegenerative dementia.

Samir Abu-Rumeileh, Petra Steinacker, Barbara Polischi, Angela Mammana, Anna Bartoletti-Stella, Patrick Oeckl, Simone Baiardi, Corrado Zenesini, André Huss, Pietro Cortelli, Sabina Capellari, Markus Otto, Piero Parchi,

<h4>Background</h4>In neurodegenerative dementias (NDs) such as prion disease, Alzheimer's disease (AD), and frontotemporal lobar degeneration (FTLD), protein misfolding leads to the tissue deposition of protein aggregates which, in turn, trigger neuroinflammation and neurodegeneration. Cerebrospinal fluid (CSF) biomarkers have the potential to reflect different aspects of these phenomena across distinct clinicopathological ... Read more >>

Alzheimers Res Ther (Alzheimer's research & therapy)
[2019, 12(1):2]

Cited: 7 times

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Two distinct prions in fatal familial insomnia and its sporadic form.

Atsuko Takeuchi, Shirou Mohri, Hideaki Kai, Akira Tamaoka, Atsushi Kobayashi, Hidehiro Mizusawa, Yasushi Iwasaki, Mari Yoshida, Hiroshi Shimizu, Shigeo Murayama, Shigetoshi Kuroda, Masanori Morita, Piero Parchi, Tetsuyuki Kitamoto,

Fatal familial insomnia is a genetic prion disease, which is associated with the aspartic acid to asparagine substitution at codon 178 of the prion protein gene. Although the hallmark pathological feature is thalamic and olivary degeneration, there is a patient with an atypical fatal familial insomnia without the hallmark feature. ... Read more >>

Brain Commun (Brain communications)
[2019, 1(1):fcz045]

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Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases.

Aušrinė Areškevičiūtė, Helle Broholm, Linea C Melchior, Anna Bartoletti-Stella, Piero Parchi, Sabina Capellari, David Scheie, Eva L Lund,

The purpose of this study was to perform an updated reclassification of all definite prion disease cases with available fresh-frozen samples referred to the Danish Reference Center over the past 40 years, putting a special emphasis on the molecular characterization of novel disease subtypes. Investigation of the Danish prion diseases ... Read more >>

J Neuropathol Exp Neurol (Journal of neuropathology and experimental neurology)
[2019, 78(11):980-992]

Cited: 1 time

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