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Detection of α-synuclein in CSF by RT-QuIC in patients with isolated rapid-eye-movement sleep behaviour disorder: a longitudinal observational study.

Alex Iranzo, Graham Fairfoul, Anutra Chumbala Na Ayudhaya, Monica Serradell, Ellen Gelpi, Isabel Vilaseca, Raquel Sanchez-Valle, Carles Gaig, Joan Santamaria, Eduard Tolosa, Renata L Riha, Alison J E Green,

<h4>Background</h4>Isolated rapid-eye-movement (REM) sleep behaviour disorder (IRBD) can be part of the prodromal stage of the α-synucleinopathies Parkinson's disease and dementia with Lewy bodies. Real-time quaking-induced conversion (RT-QuIC) analysis of CSF has high sensitivity and specificity for the detection of misfolded α-synuclein in patients with Parkinson's disease and dementia with ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):203-212]

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Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants.

Sergi Borrego-Écija, Janina Turon-Sans, Teresa Ximelis, Iban Aldecoa, Laura Molina-Porcel, Mónica Povedano, Miguel Angel Rubio, Josep Gámez, Antonio Cano, Martí Paré-Curell, Lorena Bajo, Javier Sotoca, Jordi Clarimón, Mircea Balasa, Anna Antonell, Albert Lladó, Raquel Sánchez-Valle, Ricard Rojas-García, Ellen Gelpi,

Cognitive impairment and behavioral changes in amyotrophic lateral sclerosis (ALS) are now recognized as part of the disease. Whether it is solely related to the extent of TDP-43 pathology is currently unclear. We aim to evaluate the influence of age, genetics, neuropathological features, and concomitant pathologies on cognitive impairment in ... Read more >>

Brain Pathol (Brain pathology (Zurich, Switzerland))
[2021, :e12942]

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Correction to: Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT‑P301L mutation.

Nathalie Daude, Chae Kim, Sang-Gyun Kang, Ghazaleh Eskandari-Sedighi, Tracy Haldiman, Jing Yang, Shelaine C Fleck, Erik Gomez-Cardona, Zhuang Zhuang Han, Sergi Borrego-Ecija, Serene Wohlgemuth, Olivier Julien, Holger Wille, Laura Molina-Porcel, Ellen Gelpi, Jiri G Safar, David Westaway,

Acta Neuropathol (Acta neuropathologica)
[2021, 141(3):467-468]

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Association of PSP phenotypes with survival: A brain-bank study.

Mar Guasp, Laura Molina-Porcel, Celia Painous, Nuria Caballol, Ana Camara, Alexandra Perez-Soriano, Almudena Sánchez-Gómez, Alicia Garrido, Esteban Muñoz, Maria Jose Marti, Francesc Valldeoriola, Oriol Grau, Ellen Gelpí, Gesine Respondek, Guenter H Höglinger, Yaroslau Compta,

<h4>Introduction</h4>The MDS-PSP criteria expand the phenotypic spectrum of PSP by adding to Richardson's syndrome (PSP-RS) other presentations such as PSP-parkinsonism (PSP-P), PSP-pure-gait-freezing (PSP-PGF), PSP-speech-language (PSP-SL), PSP-frontal (PSP-F), PSP-postural-instability (PSP-PI) and PSP-corticobasal-syndrome (PSP-CBS). Evidence about the prognostic differences between PSP phenotypes is scarce and focused on PSP-RS vs. non-PSP-RS. Using a ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2021, 84:77-81]

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Neuropathological consensus criteria for the evaluation of Lewy pathology in post-mortem brains: a multi-centre study.

Johannes Attems, Jon B Toledo, Lauren Walker, Ellen Gelpi, Steve Gentleman, Glenda Halliday, Tibor Hortobagyi, Kurt Jellinger, Gabor G Kovacs, Edward B Lee, Seth Love, Kirsty E McAleese, Peter T Nelson, Manuela Neumann, Laura Parkkinen, Tuomo Polvikoski, Beata Sikorska, Colin Smith, Lea Tenenholz Grinberg, Dietmar R Thal, John Q Trojanowski, Ian G McKeith,

Currently, the neuropathological diagnosis of Lewy body disease (LBD) may be stated according to several staging systems, which include the Braak Lewy body stages (Braak), the consensus criteria by McKeith and colleagues (McKeith), the modified McKeith system by Leverenz and colleagues (Leverenz), and the Unified Staging System by Beach and ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2021, 141(2):159-172]

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Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.

Edwin Jabbari, Shunsuke Koga, Rebecca R Valentino, Regina H Reynolds, Raffaele Ferrari, Manuela M X Tan, James B Rowe, Clifton L Dalgard, Sonja W Scholz, Dennis W Dickson, Thomas T Warner, Tamas Revesz, Günter U Höglinger, Owen A Ross, Mina Ryten, John Hardy, Maryam Shoai, Huw R Morris, ,

<h4>Background</h4>The genetic basis of variation in the progression of primary tauopathies has not been determined. We aimed to identify genetic determinants of survival in progressive supranuclear palsy (PSP).<h4>Methods</h4>In stage one of this two stage genome-wide association study (GWAS), we included individuals with PSP, diagnosed according to pathological and clinical criteria, ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(2):107-116]

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Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease.

Sigrid Klotz, Theresa König, Marcus Erdler, Andreas Ulram, Anita Nguyen, Thomas Ströbel, Alexander Zimprich, Elisabeth Stögmann, Günther Regelsberger, Romana Höftberger, Herbert Budka, Gabor G Kovacs, Ellen Gelpi,

<h4>Background</h4>The C9orf72 hexanucleotide expansion mutation is the most common cause of genetic frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and combined FTD-ALS. Its underlying neuropathology combines TDP-43 pathology and dipeptide repeat protein (DPR) deposits and may also associate with other neurodegeneration-associated protein aggregates. Herein we present a unique combination of ... Read more >>

Eur J Neurol (European journal of neurology)
[2021, 28(3):1009-1015]

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Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment.

Pol Andrés-Benito, Ellen Gelpi, Mariona Jové, Natalia Mota-Martorell, Èlia Obis, Manuel Portero-Otin, Mònica Povedano, Aurora Pujol, Reinald Pamplona, Isidro Ferrer,

<h4>Aim</h4>Peroxisomes play a key role in lipid metabolism, and peroxisome defects have been associated with neurodegenerative diseases such as X-adrenoleukodystrophy and Alzheimer's disease. This study aims to elucidate the contribution of peroxisomes in lipid alterations of area 8 of the frontal cortex in the spectrum of TDP43-proteinopathies. Cases of frontotemporal ... Read more >>

Neuropathol Appl Neurobiol (Neuropathology and applied neurobiology)
[2020, :]

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Multiple system aging-related tau astrogliopathy with complex proteinopathy in an oligosymptomatic octogenarian.

Sigrid Klotz, Peter Fischer, Margareta Hinterberger, Gerda Ricken, Selma Hönigschnabl, Ellen Gelpi, Gabor G Kovacs,

The combination of multiple neurodegenerative proteinopathies is increasingly recognized. Together they can potentiate neuronal dysfunction and contribute to complex neurological symptoms. We report an octogenarian female case of multiple extraneural metastases of a rectal carcinoma. She attempted suicide, which ultimately led to cardiorespiratory failure nine days after hospital admission. Apart from ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2021, 41(1):72-83]

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Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes.

Isabel Hernandez, Ellen Gelpi, Laura Molina-Porcel, Sara Bernal, Benjamín Rodríguez-Santiago, Oriol Dols-Icardo, Agustín Ruiz, Daniel Alcolea, Mercè Boada, Alberto Lleó, Jordi Clarimón,

We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in known Mendelian genes related to AD or other neurodegenerative disorders. A sibling of this patient, ... Read more >>

Neuropathol Appl Neurobiol (Neuropathology and applied neurobiology)
[2020, :]

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Clinical Conditions "Suggestive of Progressive Supranuclear Palsy"-Diagnostic Performance.

Max-Joseph Grimm, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Leslie Ferguson, Ellen Gelpi, Armin Giese, Murray Grossman, David J Irwin, Alexander Pantelyat, Alex Rajput, Sigrun Roeber, John C van Swieten, Claire Troakes, Wassilios G Meissner, Christer Nilsson, Ines Piot, Yaroslau Compta, James B Rowe, Günter U Höglinger, ,

<h4>Background</h4>The Movement Disorder Society diagnostic criteria for progressive supranuclear palsy introduced the diagnostic certainty level "suggestive of progressive supranuclear palsy" for clinical conditions with subtle signs, suggestive of the disease. This category aims at the early identification of patients, in whom the diagnosis may be confirmed as the disease evolves.<h4>Objective</h4>To ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(12):2301-2313]

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Neuronal intranuclear inclusion disease is genetically heterogeneous.

Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A Gagliano Taliun, Chris Turner, Stephanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou-Fragkouli, Thomas Bourinaris, David Zhang, Tamas Revesz, Tammaryn Lashley, Michael DeTure, Dennis W Dickson, Keith A Josephs, Ellen Gelpi, Gabor G Kovacs, Glenda Halliday, Dominic B Rowe, Ian Blair, Pentti J Tienari, Anu Suomalainen, Nick C Fox, Nicholas W Wood, Andrew J Lees, Matti J Haltia, , John Hardy, Mina Ryten, Jana Vandrovcova, Henry Houlden,

Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(9):1716-1725]

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Life threatening rare lymphomas presenting as longitudinally extensive transverse myelitis: a diagnostic challenge.

Balázs Tolvaj, Katalin Hahn, Zsuzsanna Nagy, Árpád Vadvári, Judit Csomor, Ellen Gelpi, Zsolt Illes, Ferenc Garzuly,

Background and aims - Description of two cases of rare intravascular large B-cell lymphoma and secondary T-cell lymphoma diagnosed postmortem, that manifested clinically as longitudinally extensive transverse myelitis (LETM). We discuss causes of diagnostic difficulties, deceptive radiological and histological investigations, and outline diagnostic procedures based on our and previously reported ... Read more >>

Ideggyogy Sz (Ideggyogyaszati szemle)
[2020, 73(7-08):275-285]

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Alpha-Synuclein Pathology in the Submandibular Gland of LRRK2 p.G2019S Mutation Carriers.

Dolores Vilas, Eduardo Tolosa, Iban Aldecoa, Joan Berenguer, Isabel Vilaseca, Alex Iranzo, Maria Marti, Carles Martí, Francisco Lomeña, Llucia Alós, Ellen Gelpi,

<h4>Background: </h4> The presence of intraneuronal aggregates of phosphorylated alpha-synuclein (pAS), the histological hallmark of Parkinson disease (PD), has been already demonstrated to be present in the autonomic nerve fibres that innervate the submandibular gland in approximately 75% of living PD patients. The presence of pAS in the peripheral autonomic ... Read more >>

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The autophagic marker p62 highlights Alzheimer type II astrocytes in metabolic/hepatic encephalopathy.

Ellen Gelpi, Jasmin Rahimi, Sigrid Klotz, Susanne Schmid, Gerda Ricken, Sara Forcen-Vega, Herbert Budka, Gabor G Kovacs,

Metabolic/hepatic encephalopathy is neuropathologically characterized by the presence of Alzheimer type II astrocytes (AA II) with large and clear nuclear morphology. To date, there is no good immunohistochemical marker to better identify these cells. Here, we assessed cases of hepatic encephalopathy of different etiologies by immunohistochemistry using an anti-p62 antibody. ... Read more >>

Neuropathology (Neuropathology : official journal of the Japanese Society of Neuropathology)
[2020, 40(4):358-366]

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Distribution patterns of tau pathology in progressive supranuclear palsy.

Gabor G Kovacs, Milica Jecmenica Lukic, David J Irwin, Thomas Arzberger, Gesine Respondek, Edward B Lee, David Coughlin, Armin Giese, Murray Grossman, Carolin Kurz, Corey T McMillan, Ellen Gelpi, Yaroslau Compta, John C van Swieten, Laura Donker Laat, Claire Troakes, Safa Al-Sarraj, John L Robinson, Sigrun Roeber, Sharon X Xie, Virginia M-Y Lee, John Q Trojanowski, Günter U Höglinger,

Progressive supranuclear palsy (PSP) is a 4R-tauopathy predominated by subcortical pathology in neurons, astrocytes, and oligodendroglia associated with various clinical phenotypes. In the present international study, we addressed the question of whether or not sequential distribution patterns can be recognized for PSP pathology. We evaluated heat maps and distribution patterns ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 140(2):99-119]

Cited: 4 times

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Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation.

Nathalie Daude, Chae Kim, Sang-Gyun Kang, Ghazaleh Eskandari-Sedighi, Tracy Haldiman, Jing Yang, Shelaine C Fleck, Erik Gomez-Cardona, Zhuang Zhuang Han, Sergi Borrego-Ecija, Serene Wohlgemuth, Olivier Julien, Holger Wille, Laura Molina-Porcel, Ellen Gelpi, Jiri G Safar, David Westaway,

Tau protein accumulation is a common denominator of major dementias, but this process is inhomogeneous, even when triggered by the same germline mutation. We considered stochastic misfolding of human tau conformers followed by templated conversion of native monomers as an underlying mechanism and derived sensitive conformational assays to test this ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 139(6):1045-1070]

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Copathology in Progressive Supranuclear Palsy: Does It Matter?

Milica Jecmenica Lukic, Carolin Kurz, Gesine Respondek, Oriol Grau-Rivera, Yaroslau Compta, Ellen Gelpi, Claire Troakes, , John C van Swieten, Armin Giese, Sigrun Roeber, Thomas Arzberger, Günter Höglinger,

<h4>Background</h4>The influence of concomitant brain pathologies on the progression rate in PSP is unclear.<h4>Objectives</h4>To analyze the frequency and severity of copathologies and their impact on the progression in PSP.<h4>Methods</h4>We analyzed clinic-pathological features of 101 PSP patients. Diagnoses and stages of copathologies were established according to standardized criteria, including Alzheimer's disease-related ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(6):984-993]

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Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.

Helen Ling, Ellen Gelpi, Karen Davey, Zane Jaunmuktane, Kin Y Mok, Edwin Jabbari, Roberto Simone, Lea R'Bibo, Sebastian Brandner, Matthew J Ellis, Johannes Attems, David Mann, Glenda M Halliday, S Al-Sarraj, J Hedreen, James W Ironside, Gabor G Kovacs, E Kovari, S Love, Jean Paul G Vonsattel, Kieren S J Allinson, Daniela Hansen, Teisha Bradshaw, Núria Setó-Salvia, Selina Wray, Rohan de Silva, Huw R Morris, Thomas T Warner, John Hardy, Janice L Holton, Tamas Revesz,

Corticobasal degeneration typically progresses gradually over 5-7 years from onset till death. Fulminant corticobasal degeneration cases with a rapidly progressive course were rarely reported (RP-CBD). This study aimed to investigate their neuropathological characteristics. Of the 124 autopsy-confirmed corticobasal degeneration cases collected from 14 centres, we identified 6 RP-CBD cases (4.8%) who ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 139(4):717-734]

Cited: 2 times

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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - An unusual cause of dementia.

Sigrid Klotz, Franz Riederer, Nora Hergovich, Thomas Schlager, Lara Steinkellner, Elisabeth Fertl, Cristoph Baumgartner, Alexander Zimprich, Ellen Gelpi,

Clin Neuropathol (Clinical neuropathology)
[2020, 39(1):4-6]

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Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy.

Maria Elena Erro, Lidia Sabater, Laura Martínez, María Herrera, Aiora Ostolaza, Iñaki García de Gurtubay, Teresa Tuñón, Francesc Graus, Ellen Gelpi,

OBJECTIVE:To describe the neuropathologic features and the molecular data of phosphorylated tau (pTau) in a new case of anti-IgLON5 disease. METHODS:Review of clinical data, postmortem neuropathologic examination. Biochemical analyses of pTau were performed in brain samples from the present case and from a previously described patient with anti-IgLON5 with the ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2020, 7(2):]

Cited: 2 times

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Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies.

Gesine Respondek, Max-Joseph Grimm, Ines Piot, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Sigrun Roeber, Armin Giese, Murray Grossman, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Günter U Höglinger, ,

<h4>Background</h4>The Movement Disorder Society criteria for progressive supranuclear palsy introduced the category "probable 4-repeat (4R)-tauopathy" for joint clinical diagnosis of progressive supranuclear palsy and corticobasal degeneration.<h4>Objectives</h4>To validate the accuracy of these clinical criteria for "probable 4R-tauopathy" to predict underlying 4R-tauopathy pathology.<h4>Methods</h4>Diagnostic accuracy for 4R-tauopathies according to the established criteria was ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(1):171-176]

Cited: 3 times

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A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain).

Leire Palencia-Madrid, Raquel Sánchez-Valle, Ierai Fernández de Retana, Sergi Borrego, Oriol Grau-Rivera, Ramón Reñé, Isabel Hernández, Consuelo Almenar, Giacomina Rossi, Paola Caroppo, Veronica Redaelli, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Anna Antonell, Mircea Balasa, Ellen Gelpi, Albert Lladó, Marian M de Pancorbo,

The County of Baix Llobregat (Barcelona, Catalonia, Spain) presents a high prevalence of familial frontotemporal dementia (FTD) in the presence of P301L mutation in the MAPT gene. To evaluate a possible unique founder effect of P301L, and its age, the analysis of 20 single-nucleotide polymorphisms covering 50 kb and 12 ... Read more >>

Neurobiol Aging (Neurobiology of aging)
[2019, 84:236.e9-236.e15]

Cited: 1 time

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MAPT p.V363I mutation: A rare cause of corticobasal degeneration.

Sarah Ahmed, Monica Diez Fairen, Marya S Sabir, Pau Pastor, Jinhui Ding, Lourdes Ispierto, Ankur Butala, Christopher M Morris, Claudia Schulte, Thomas Gasser, Edwin Jabbari, Olga Pletnikova, Huw R Morris, Juan Troncoso, Ellen Gelpi, Alexander Pantelyat, Sonja W Scholz,

<h4>Objective</h4>Patients with corticobasal syndrome (CBS) present with heterogeneous clinical features, including asymmetric parkinsonism, dyspraxia, aphasia, and cognitive impairment; to better understand the genetic etiology of this rare disease, we undertook a genetic analysis of microtubule-associated protein tau (<i>MAPT</i>).<h4>Methods</h4>We performed a genetic evaluation of <i>MAPT</i> mutations in 826 neurologically healthy controls ... Read more >>

Neurol Genet (Neurology. Genetics)
[2019, 5(4):e347]

Cited: 2 times

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Teaching case 3-2019: Are nuclear clefts or invaginations the niche of intranuclear inclusions in FTLD-TDP?

Laura Molina-Porcel, Esther Pérez-Navarro, Marta García-Forn, David Westaway, Martí Colom-Cadena, Ellen Gelpi,

Clin Neuropathol (Clinical neuropathology)
[2019, 38(3):97-99]

Cited: 0 times

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