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Author Michael D Geschwind

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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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Multimodal MRI staging for tracking progression and clinical-imaging correlation in sporadic Creutzfeldt-Jakob disease.

Simone Sacco, Matteo Paoletti, Adam M Staffaroni, Huicong Kang, Julio Rojas, Gabe Marx, Sheng-Yang Goh, Maria Luisa Mandelli, Isabel E Allen, Joel H Kramer, Stefano Bastianello, Roland G Henry, Howie J Rosen, Eduardo Caverzasi, Michael D Geschwind,

Diffusion imaging is very useful for the diagnosis of sporadic Creutzfeldt-Jakob disease, but it has limitations in tracking disease progression as mean diffusivity changes non-linearly across the disease course. We previously showed that mean diffusivity changes across the disease course follow a quasi J-shaped curve, characterized by decreased values in ... Read more >>

Neuroimage Clin (NeuroImage. Clinical)
[2020, 30:102523]

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Seizure-related 6 homolog like 2 autoimmunity: Neurologic syndrome and antibody effects.

Jon Landa, Mar Guasp, Mar Petit-Pedrol, Eugenia Martínez-Hernández, Jesús Planagumà, Albert Saiz, Raquel Ruiz-García, Lorena García-Fernández, Jan Verschuuren, Rachel Saunders-Pullman, Liliana Ramirez-Gómez, Michael D Geschwind, Josep Dalmau, Lidia Sabater, Francesc Graus,

<h4>Objective</h4>To describe the clinical syndrome of 4 new patients with seizure-related 6 homolog like 2 antibodies (SEZ6L2-abs), study the antibody characteristics, and evaluate their effects on neuronal cultures.<h4>Methods</h4>SEZ6L2-abs were initially identified in serum and CSF of a patient with cerebellar ataxia by immunohistochemistry on rat brain sections and immunoprecipitation from ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2021, 8(1):]

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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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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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Baseline neuropsychological profiles in prion disease predict survival time.

Saranya E Sundaram, Adam M Staffaroni, Nicole C Walker, Kaitlin B Casaletto, Megan Casey, Aili Golubjatnikov, Stacy Metcalf, Kelly O'Leary, Katherine Wong, Kendra Benisano, Sven Forner, Marta Gonzalez Catalan, Isabel E Allen, Howard J Rosen, Joel H Kramer, Michael D Geschwind,

<h4>Objective</h4>Few studies have captured the neuropsychological profile of sporadic Creutzfeldt-Jakob disease (sCJD) with neuropsychological testing, and little is known about cognitive predictors of survival. We characterized baseline neuropsychological performance in sCJD and investigated associations with survival.<h4>Methods</h4>sCJD participants who completed the MMSE (n = 118), 61 sCJD of whom also completed a neuropsychological ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(9):1535-1545]

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Anti-gamma-aminobutyric acid receptor type A encephalitis: a review.

Chu-Yueh Guo, Jeffrey M Gelfand, Michael D Geschwind,

<h4>Purpose of review</h4>To systematically review the clinical features, diagnosis, and management of anti-gamma-aminobutyric acid receptor Type A (GABAA) autoimmune encephalitis with a focus on recent data.<h4>Recent findings</h4>In a review of published reports, we identified 50 cases of anti-GABAA receptor encephalitis with clinical features reported. The median age at presentation was ... Read more >>

Curr Opin Neurol (Current opinion in neurology)
[2020, 33(3):372-380]

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The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.

Shi-Rui Gan, Karla P Figueroa, Hao-Ling Xu, Susan Perlman, George Wilmot, Christopher M Gomez, Jeremy Schmahmann, Henry Paulson, Vikram G Shakkottai, Sarah H Ying, Theresa Zesiewicz, Khalaf Bushara, Michael D Geschwind, Guangbin Xia, S H Subramony, Liana Rosenthal, Tetsuo Ashizawa, Stefan M Pulst, Ning Wang, Sheng-Han Kuo,

<h4>Background</h4>For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity does affect the disease phenotypes. However, how ethnicity contributes to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2020, 72:37-43]

Cited: 1 time

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Intrathecal B-cell activation in LGI1 antibody encephalitis.

Klaus Lehmann-Horn, Sarosh R Irani, Shengzhi Wang, Arumugam Palanichamy, Sarah Jahn, Ariele L Greenfield, Ravi Dandekar, Gildas Lepennetier, Sophia Michael, Jeffrey M Gelfand, Michael D Geschwind, Michael R Wilson, Scott S Zamvil, H-Christian von Büdingen,

OBJECTIVE:To study intrathecal B-cell activity in leucine-rich, glioma-inactivated 1 (LGI1) antibody encephalitis. In patients with LGI1 antibodies, the lack of CSF lymphocytosis or oligoclonal bands and serum-predominant LGI1 antibodies suggests a peripherally initiated immune response. However, it is unknown whether B cells within the CNS contribute to the ongoing pathogenesis ... Read more >>

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

Cited: 2 times

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Bilateral basal ganglia infarcts presenting as rapid onset cognitive and behavioral disturbance.

Joanna Hellmuth, Kaitlin Casaletto, Richard Cuneo, Katherine L Possin, William Dillon, Michael D Geschwind,

We describe a rare case of a patient with rapid onset, prominent cognitive and behavioral changes who presented to our rapidly progressive dementia program with symptoms ultimately attributed to bilateral basal ganglia infarcts involving the caudate heads. We review the longitudinal clinical presentation and neuropsychological testing for this patient, and ... Read more >>

Neurocase (Neurocase)
[2020, 26(2):115-119]

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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Kathie J Ngo, Jessica E Rexach, Hane Lee, Lauren E Petty, Susan Perlman, Juliana M Valera, Joshua L Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E Posey, Shalini N Jhangiani, Zeynep H Coban-Akdemir, Eric Boerwinkle, Donna Muzny, Alexandra B Nelson, Sharon Hassin-Baer, Gemma Poke, Katherine Neas, Michael D Geschwind, Wayne W Grody, Richard Gibbs, Daniel H Geschwind, James R Lupski, Jennifer E Below, Stanley F Nelson, Brent L Fogel,

Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper limit of this method remains ill-defined, hindering efforts to address the remaining diagnostic gap. To further assess the role ... Read more >>

Hum Mutat (Human mutation)
[2020, 41(2):487-501]

Cited: 4 times

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Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.

Patricia Aguilar-Calvo, Alejandro M Sevillano, Jaidev Bapat, Katrin Soldau, Daniel R Sandoval, Hermann C Altmeppen, Luise Linsenmeier, Donald P Pizzo, Michael D Geschwind, Henry Sanchez, Brian S Appleby, Mark L Cohen, Jiri G Safar, Steven D Edland, Markus Glatzel, K Peter R Nilsson, Jeffrey D Esko, Christina J Sigurdson,

Cofactors are essential for driving recombinant prion protein into pathogenic conformers. Polyanions promote prion aggregation in vitro, yet the cofactors that modulate prion assembly in vivo remain largely unknown. Here we report that the endogenous glycosaminoglycan, heparan sulfate (HS), impacts prion propagation kinetics and deposition sites in the brain. Exostosin-1 ... Read more >>

Acta Neuropathol (Acta neuropathologica)
[2020, 139(3):527-546]

Cited: 3 times

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Age at onset in genetic prion disease and the design of preventive clinical trials.

Eric Vallabh Minikel, Sonia M Vallabh, Margaret C Orseth, Jean-Philippe Brandel, Stéphane Haïk, Jean-Louis Laplanche, Inga Zerr, Piero Parchi, Sabina Capellari, Jiri Safar, Janna Kenny, Jamie C Fong, Leonel T Takada, Claudia Ponto, Peter Hermann, Tobias Knipper, Christiane Stehmann, Tetsuyuki Kitamoto, Ryusuke Ae, Tsuyoshi Hamaguchi, Nobuo Sanjo, Tadashi Tsukamoto, Hidehiro Mizusawa, Steven J Collins, Roberto Chiesa, Ignazio Roiter, Jesús de Pedro-Cuesta, Miguel Calero, Michael D Geschwind, Masahito Yamada, Yosikazu Nakamura, Simon Mead,

<h4>Objective</h4>To determine whether preventive trials in genetic prion disease could be designed to follow presymptomatic mutation carriers to onset of disease.<h4>Methods</h4>We assembled age at onset or death data from 1,094 individuals with high penetrance mutations in the prion protein gene (<i>PRNP</i>) in order to generate survival and hazard curves and ... Read more >>

Neurology (Neurology)
[2019, 93(2):e125-e134]

Cited: 6 times

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An Opioid-Related Amnestic Syndrome With Persistent Effects on Hippocampal Structure and Function.

P Monroe Butler, Jed A Barash, Kaitlin B Casaletto, Devyn L Cotter, Renaud La Joie, Michael D Geschwind, Howie J Rosen, Joel H Kramer, Bruce L Miller,

J Neuropsychiatry Clin Neurosci (The Journal of neuropsychiatry and clinical neurosciences)
[2019, 31(4):392-396]

Cited: 2 times

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Association of Blood and Cerebrospinal Fluid Tau Level and Other Biomarkers With Survival Time in Sporadic Creutzfeldt-Jakob Disease.

Adam M Staffaroni, Abigail O Kramer, Megan Casey, Huicong Kang, Julio C Rojas, Christina D Orrú, Byron Caughey, I Elaine Allen, Joel H Kramer, Howard J Rosen, Kaj Blennow, Henrik Zetterberg, Michael D Geschwind,

<h4>Importance</h4>Fluid biomarkers that can predict survival time in sporadic Creutzfeldt-Jakob disease (sCJD) will be critical for clinical care and for treatment trials.<h4>Objective</h4>To assess whether plasma and cerebrospinal fluid (CSF) biomarkers are associated with survival time in patients with sCJD.<h4>Design, setting, and participants</h4>In this longitudinal cohort study, data from 193 patients ... Read more >>

JAMA Neurol (JAMA neurology)
[2019, :]

Cited: 10 times

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GABAA receptor autoimmunity: A multicenter experience.

Kevin O'Connor, Patrick Waters, Lars Komorowski, Anastasia Zekeridou, Chu-Yueh Guo, Victor C Mgbachi, Christian Probst, Swantje Mindorf, Bianca Teegen, Jeffrey M Gelfand, Michael D Geschwind, Vanda Lennon, Sean J Pittock, Andrew McKeon,

Objective:We sought to validate methods for detection and confirmation of GABAA receptor (R)-IgG and clinically characterize seropositive cases. Methods:Archived serum and CSF specimens (185 total) suspected to harbor GABAAR-IgG were evaluated by indirect immunofluorescence assay (IFA). Twenty-six specimens from 19 patients appeared suspicious for GABAAR-IgG positivity by IFA, based on ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2019, 6(3):e552]

Cited: 1 time

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Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.

Sonia M Vallabh, Chloe K Nobuhara, Franc Llorens, Inga Zerr, Piero Parchi, Sabina Capellari, Eric Kuhn, Jacob Klickstein, Jiri G Safar, Flavia C Nery, Kathryn J Swoboda, Michael D Geschwind, Henrik Zetterberg, Steven E Arnold, Eric Vallabh Minikel, Stuart L Schreiber,

Reduction of native prion protein (PrP) levels in the brain is an attractive strategy for the treatment or prevention of human prion disease. Clinical development of any PrP-reducing therapeutic will require an appropriate pharmacodynamic biomarker: a practical and robust method for quantifying PrP, and reliably demonstrating its reduction in the ... Read more >>

Proc Natl Acad Sci U S A (Proceedings of the National Academy of Sciences of the United States of America)
[2019, 116(16):7793-7798]

Cited: 8 times

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Prion Seeds Distribute throughout the Eyes of Sporadic Creutzfeldt-Jakob Disease Patients.

Christina D Orrù, Katrin Soldau, Christian Cordano, Jorge Llibre-Guerra, Ari J Green, Henry Sanchez, Bradley R Groveman, Steven D Edland, Jiri G Safar, Jonathan H Lin, Byron Caughey, Michael D Geschwind, Christina J Sigurdson,

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common prion disease in humans and has been iatrogenically transmitted through corneal graft transplantation. Approximately 40% of sCJD patients develop visual or oculomotor symptoms and may seek ophthalmological consultation. Here we used the highly sensitive real-time quaking-induced conversion (RT-QuIC) assay to measure postmortem ... Read more >>

mBio (mBio)
[2018, 9(6):]

Cited: 12 times

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Prion Diseases.

Boon Lead Tee, Erika Mariana Longoria Ibarrola, Michael D Geschwind,

Prions diseases are uniformly fatal neurodegenerative diseases that occur in sporadic, genetic, and acquired forms. Acquired prion diseases, caused by infectious transmission, are least common. Most prion diseases are not infectious, but occur spontaneously through misfolding of normal prion proteins or genetic mutations in the prion protein gene. Although most ... Read more >>

Neurol Clin (Neurologic clinics)
[2018, 36(4):865-897]

Cited: 5 times

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Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Niraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J Yousefzadeh, Erin A Wade, Laura J Niedernhofer, May Christine V Malicdan, Kenneth H Kraemer, William A Gahl, Camilo Toro,

<h4>Objective</h4>To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting.<h4>Methods</h4>We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F.<h4>Results</h4>Both patients presented with adult-onset progressive neurologic deterioration ... Read more >>

Neurol Genet (Neurology. Genetics)
[2018, 4(3):e240]

Cited: 1 time

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Distinct HLA associations of LGI1 and CASPR2-antibody diseases.

Sophie Binks, James Varley, Wanseon Lee, Mateusz Makuch, Katherine Elliott, Jeffrey M Gelfand, Saiju Jacob, M Isabel Leite, Paul Maddison, Mian Chen, Michael D Geschwind, Eleanor Grant, Arjune Sen, Patrick Waters, Mark McCormack, Gianpiero L Cavalleri, Martin Barnardo, Julian C Knight, Sarosh R Irani,

The recent biochemical distinction between antibodies against leucine-rich, glioma-inactivated-1 (LGI1), contactin-associated protein-2 (CASPR2) and intracellular epitopes of voltage-gated potassium-channels (VGKCs) demands aetiological explanations. Given established associations between human leucocyte antigen (HLA) alleles and adverse drug reactions, and our clinical observation of frequent adverse drugs reactions in patients with LGI1 antibodies, ... Read more >>

Brain (Brain : a journal of neurology)
[2018, 141(8):2263-2271]

Cited: 20 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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Expanding the global prevalence of spinocerebellar ataxia type 42.

Kathie Ngo, Mamdouh Aker, Lauren E Petty, Jason Chen, Francesca Cavalcanti, Alexandra B Nelson, Sharon Hassin-Baer, Michael D Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E Below, Brent L Fogel,

Neurol Genet (Neurology. Genetics)
[2018, 4(3):e232]

Cited: 7 times

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Genetic PrP Prion Diseases.

Mee-Ohk Kim, Leonel T Takada, Katherine Wong, Sven A Forner, Michael D Geschwind,

Genetic prion diseases (gPrDs) caused by mutations in the prion protein gene (<i>PRNP</i>) have been classified as genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, or fatal familial insomnia. Mutations in <i>PRNP</i> can be missense, nonsense, and/or octapeptide repeat insertions or, possibly, deletions. These mutations can produce diverse clinical features. They may also ... Read more >>

Cold Spring Harb Perspect Biol (Cold Spring Harbor perspectives in biology)
[2018, 10(5):]

Cited: 16 times

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Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases.

Michael G Erkkinen, Mee-Ohk Kim, Michael D Geschwind,

Neurodegenerative diseases are a common cause of morbidity and cognitive impairment in older adults. Most clinicians who care for the elderly are not trained to diagnose these conditions, perhaps other than typical Alzheimer's disease (AD). Each of these disorders has varied epidemiology, clinical symptomatology, laboratory and neuroimaging features, neuropathology, and ... Read more >>

Cold Spring Harb Perspect Biol (Cold Spring Harbor perspectives in biology)
[2018, 10(4):]

Cited: 54 times

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