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https://www.readbyqxmd.com/read/29436943/heterozygous-genotype-at-codon-129-correlates-with-prolonged-disease-course-in-heidenhain-variant-sporadic-cjd-case-report
#1
Ryan A Townley, Elliot T Dawson, Daniel A Drubach
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapid and fatal neurodegenerative disease defined by misfolded prion proteins accumulating in the brain. A minority of cases initially present with posterior cortical atrophy (PCA) phenotype, also known as Heidenhain variant or visual variant CJD. This case provides further evidence of sCJD presenting as PCA. The case also provides evidence for early DWI changes and cortical atrophy over 30 months before neurologic decline and subsequent death. The prolonged disease course correlates with prion protein codon 129 heterozygosity and coexistence of multiple prion strains...
February 13, 2018: Neurocase
https://www.readbyqxmd.com/read/29429784/rapid-progressive-visual-decline-and-visual-field-defects-in-two-patients-with-the-heidenhain-variant-of-creutzfeld-jakob-disease
#2
Janine Lenk, Kay Engellandt, Naim Terai, Antonia Bottesi, Egbert Matthé
BACKGROUND: Heidenhain variant of Creutzfeldt-Jakob (HvCJD) is a rare disease, patients presenting with loss of visual acuity and a decline in visual fields. CASE PRESENTATION: Two patients with rapid loss of visual acuity and declining visual fields presented with homonymic hemianopsia over several weeks. Cranial MRI showed neither stroke nor other morphological changes explaining the severe visual field defects. Neurological examination revealed no pathologies...
February 8, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29422367/csf-tau-supplements-14-3-3-protein-detection-for-sporadic-creutzfeldt-jakob-disease-diagnosis-while-transitioning-to-next-generation-diagnostics
#3
Qiao-Xin Li, Shiji Varghese, Shannon Sarros, Christiane Stehmann, James D Doecke, Christopher J Fowler, Colin L Masters, Steven J Collins
The pre-mortem clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is supported by biomarkers, especially cerebrospinal fluid (CSF) 14-3-3 and total tau (Tau) protein levels. These CSF biomarkers have proven the most useful prior to transitioning to powerful next generation diagnostics employing protein amplification techniques such as the real time quaking-induced conversion (RT-QuIC) assay. To enhance national diagnostic capacity while transitioning to RT-QuIC assays an optimized CSF Tau cutoff was determined and shown to usefully supplement 14-3-3 protein detection...
February 5, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29399090/report-and-literature-review-on-two-cases-with-different-kinds-of-creutzfeldt-jakob-disease
#4
Chunhua Tang, Changyue Gao
Creutzfeldt-Jakob disease (CJD), also known as corticostriate spinal degeneration, subacute spongiform encephalopathy or infectious spongiform encephalopathy, is a type of degenerative disease of the central nervous system caused by prion protein (PrP) infection, which is the most common type of human PrP disease. CJD is genetic and infectious, and is one of the most common causes of rapid progressive dementia with rare clinical occurrence. Herein, we report the clinical conditions of 2 cases of patients with different type of CJD we treated and followed up recently, and a review of relevant literature...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29391125/cerebrospinal-fluid-neurofilament-light-levels-in-neurodegenerative-dementia-evaluation-of-diagnostic-accuracy-in-the-differential-diagnosis-of-prion-diseases
#5
Inga Zerr, Matthias Schmitz, André Karch, Anna Villar-Piqué, Eirini Kanata, Ewa Golanska, Daniela Díaz-Lucena, Aikaterini Karsanidou, Peter Hermann, Tobias Knipper, Stefan Goebel, Daniela Varges, Theodoros Sklaviadis, Beata Sikorska, Pawel P Liberski, Isabel Santana, Isidro Ferrer, Henrik Zetterberg, Kaj Blennow, Olga Calero, Miguel Calero, Anna Ladogana, Raquel Sánchez-Valle, Inês Baldeiras, Franc Llorens
INTRODUCTION: Neurofilament light (NFL) levels in the cerebrospinal fluid are increased in several neurodegenerative dementias. However, their diagnostic accuracy in the differential diagnostic context is unknown. METHODS: Cerebrospinal fluid NFL levels were quantified in nonprimarily neurodegenerative neurological and psychiatric diseases (n = 122), mild cognitive impairment (n = 48), Alzheimer's disease (n = 108), dementia with Lewy bodies/Parkinson's disease dementia (n = 53), vascular dementia (n = 46), frontotemporal dementia (n = 41), sporadic Creutzfeldt-Jakob disease (sCJD, n = 132), and genetic prion diseases (n = 182)...
January 29, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29368621/the-csf-neurofilament-light-signature-in-rapidly-progressive-neurodegenerative-dementias
#6
Samir Abu-Rumeileh, Sabina Capellari, Michelangelo Stanzani-Maserati, Barbara Polischi, Paolo Martinelli, Paola Caroppo, Anna Ladogana, Piero Parchi
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 tau (t-tau), phosphorylated tau, and β-amyloid 42 in subjects with a neuropathological or clinical diagnosis of prion disease (n = 141), Alzheimer's disease (AD) (n = 73), dementia with Lewy bodies (DLB) (n = 35), or frontotemporal lobar degeneration (FTLD) (n = 44)...
January 11, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29359329/creutzfeldt-jakob-disease-and-blood-transfusion-safety
#7
REVIEW
C R Seed, P E Hewitt, R Y Dodd, F Houston, L Cervenakova
Transmissible spongiform encephalopathies (TSEs) are untreatable, fatal neurologic diseases affecting mammals. Human disease forms include sporadic, familial and acquired Creutzfeldt-Jakob disease (CJD). While sporadic CJD (sCJD) has been recognized for near on 100 years, variant CJD (vCJD) was first reported in 1996 and is the result of food-borne transmission of the prion of bovine spongiform encephalopathy (BSE, 'mad cow disease'). Currently, 230 vCJD cases have been reported in 12 countries, the majority in the UK (178) and France (27)...
January 22, 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29329906/development-of-a-quick-bioassay-for-the-evaluation-of-transmission-properties-of-acquired-prion-diseases
#8
Yoshiko Munesue, Taishi Shimazaki, Zechen Qi, Norikazu Isoda, Hirofumi Sawa, Keisuke Aoshima, Takashi Kimura, Shirou Mohri, Tetsuyuki Kitamoto, Atsushi Kobayashi
Evaluation of transmission properties is important for the differential diagnosis of a subgroup of acquired Creutzfeldt-Jakob disease (CJD) with methionine homozygosity at polymorphic codon 129 of the PRNP gene, an intermediate type abnormal prion protein (PrP), and kuru plaques, denoted as acquired CJD-MMiK. The present study aimed to develop a quick evaluation system of the transmission properties of acquired CJD-MMiK. In the PrP-humanized mice intraperitoneally inoculated with brain homogenates from an acquired CJD-MMiK patient, accumulation of abnormal PrP was observed in follicular dendritic cells of the spleen at 75 days post-inoculation...
January 9, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29326035/myoclonus-in-the-elderly-a-retrospective-analysis-of-clinical-and-electrophysiological-characteristics-of-patients-referred-to-an-electrophysiology-laboratory
#9
Meral E Kiziltan, Aysegul Gunduz, Melih Tutuncu, Sibel Ertan, Hulya Apaydin, Gunes Kiziltan
BACKGROUND AND OBJECTIVE: Late-onset myoclonus in the elderly is mainly related to dementia or systemic disease. In this report, we aimed to investigate the clinical and electrophysiological features of patients with late-onset myoclonus. PATIENTS AND METHOD: We retrospectively assessed the medical records of patients who were referred to our electromyography laboratory. From these records, we included all patients who had myoclonus which started after the age of 60 years and in whom it was confirmed by polymyography...
December 26, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29322248/a-reversible-liquid-drop-aggregation-controls-glucose-response-in-yeast
#10
REVIEW
Kobi Simpson-Lavy, Martin Kupiec
Glucose is the preferred carbon of the yeast Saccharomyces cerevisiae. Depletion of glucose activates SNF1 (yeast AMP-activated protein kinase-AMPK), allowing cells to switch from fermentation to respiration. We have recently characterized the mechanism by which SNF1 activity is regulated by the Std1 protein, and its regulator Sip5. The hitherto uncharacterized protein kinase Vhs1 phosphorylates Sip5 in response to glucose availability, disengaging it from Std1 and promoting the sequestering of the SNF1 activator out of the nucleus into cytoplasmic puncta...
January 10, 2018: Current Genetics
https://www.readbyqxmd.com/read/29310723/iatrogenic-creutzfeldt-jakob-disease-with-amyloid-%C3%AE-pathology-an-international-study
#11
Ignazio Cali, Mark L Cohen, Stéphane Haїk, 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 cases - 21 with adequate number of histopathological sections - originating from Australia, France, Italy, and the Unites States, were examined by immunohistochemistry, amyloid staining, and Western blot analysis of the scrapie prion protein (PrPSc), and compared with age-group matched cases of sporadic CJD (sCJD), Alzheimer disease (AD) or free of neurodegenerative diseases (non-ND)...
January 8, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29249654/the-std1-activator-of-the-snf1-ampk-kinase-controls-glucose-response-in-yeast-by-a-regulated-protein-aggregation
#12
Kobi Simpson-Lavy, Tianchang Xu, Mark Johnston, Martin Kupiec
The ability to respond to available nutrients is critical for all living cells. The AMP-activated protein kinase (SNF1 in yeast) is a central regulator of metabolism that is activated when energy is depleted. We found that SNF1 activity in the nucleus is regulated by controlled relocalization of the SNF1 activator Std1 into puncta. This process is regulated by glucose through the activity of the previously uncharacterized protein kinase Vhs1 and its substrate Sip5, a protein of hitherto unknown function. Phosphorylation of Sip5 prevents its association with Std1 and triggers Std1 accretion...
December 13, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29225787/creutzfeldt-jakob-disease-recent-developments
#13
REVIEW
Graeme Mackenzie, Robert Will
Creutzfeldt-Jakob disease (CJD) is a rare prion disorder that has been the subject of both professional and public interest following the identification of variant CJD as a zoonotic disorder. There have been recent advances in diagnostic techniques, including real-time quaking-induced conversion and magnetic resonance imaging brain scan, that have allowed more accurate case recognition in all forms of CJD. Although the epidemic of variant CJD is clearly in decline, prevalence studies suggest that it may be premature to be complacent about concerns for public health...
2017: F1000Research
https://www.readbyqxmd.com/read/29190276/public-health-risks-from-subclinical-variant-cjd
#14
Abigail B Diack, Robert G Will, Jean C Manson
No abstract text is available yet for this article.
November 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/29169405/atypical-creutzfeldt-jakob-disease-with-prp-amyloid-plaques-in-white-matter-molecular-characterization-and-transmission-to-bank-voles-show-the-m1-strain-signature
#15
Marcello Rossi, Daniela Saverioni, Michele Di Bari, Simone Baiardi, Afina Willemina Lemstra, Laura Pirisinu, Sabina Capellari, Annemieke Rozemuller, Romolo Nonno, Piero Parchi
Amyloid plaques formed by abnormal prion protein (PrPSc) 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, PrPSc type 2 and kuru-type amyloid plaques) and iatrogenic CJDMMiK (MM at codon 129, PrPSc of intermediate type and kuru plaques). According to recent studies, however, PrP-amyloid plaques involving the subcortical and deep nuclei white matter may also rarely occur in CJDMM1 (MM at codon 129 and PrPSc type 1), the most common CJD histotype...
November 23, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29167394/prion-seeding-activity-and-infectivity-in-skin-samples-from-patients-with-sporadic-creutzfeldt-jakob-disease
#16
Christina D Orrú, Jue Yuan, Brian S Appleby, Baiya Li, Yu Li, Dane Winner, Zerui Wang, Yi-An Zhan, Mark Rodgers, Jason Rarick, Robert E Wyza, Tripti Joshi, Gong-Xian Wang, Mark L Cohen, Shulin Zhang, Bradley R Groveman, Robert B Petersen, James W Ironside, Miguel E Quiñones-Mateu, Jiri G Safar, Qingzhong Kong, Byron Caughey, Wen-Quan Zou
Sporadic Creutzfeldt-Jakob disease (sCJD), the most common human prion disease, is transmissible through iatrogenic routes due to abundant infectious prions [misfolded forms of the prion protein (PrPSc)] in the central nervous system (CNS). Some epidemiological studies have associated sCJD risk with non-CNS surgeries. We explored the potential prion seeding activity and infectivity of skin from sCJD patients. Autopsy or biopsy skin samples from 38 patients [21 sCJD, 2 variant CJD (vCJD), and 15 non-CJD] were analyzed by Western blotting and real-time quaking-induced conversion (RT-QuIC) for PrPSc Skin samples from two patients were further examined for prion infectivity by bioassay using two lines of humanized transgenic mice...
November 22, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29162644/a-role-for-astroglia-in-prion-diseases
#17
Adriano Aguzzi, Yingjun Liu
In this issue of JEM, Krejciova et al. (https://doi.org/10.1084/jem.20161547) report that astrocytes derived from human iPSCs can replicate human CJD prions. These observations provide a new, potentially very valuable model for studying human prions in cellula and for identifying antiprion compounds that might serve as clinical candidates. Furthermore, they add to the evidence that astrocytes may not be just innocent bystanders in prion diseases.
December 4, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29142239/differential-overexpression-of-serpina3-in-human-prion-diseases
#18
S Vanni, F Moda, M Zattoni, E Bistaffa, E De Cecco, M Rossi, G Giaccone, F Tagliavini, S Haïk, J P Deslys, G Zanusso, J W Ironside, I Ferrer, G G Kovacs, G Legname
Prion diseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies. The molecular alterations leading to the onset and the spreading of these diseases are still unknown. In a previous work we identified a five-gene signature able to distinguish intracranially BSE-infected macaques from healthy ones, with SERPINA3 showing the most prominent dysregulation. We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30)...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142140/imaging-and-csf-analyses-effectively-distinguish-cjd-from-its-mimics
#19
Peter Rudge, Harpreet Hyare, Alison Green, John Collinge, Simon Mead
OBJECTIVE: To review clinical and investigation findings in patients referred to a specialist prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were found to have an alternative final diagnosis. METHODS: Review the clinical findings and investigations in 214 patients enrolled into the UK National Prion Monitoring Cohort Study between October 2008 and November 2015 who had postmortem confirmed sCJD and compare these features with 50 patients referred over the same period who had an alternative final diagnosis (CJD mimics)...
November 15, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29142138/chitotriosidase-chit1-is-increased-in-microglia-and-macrophages-in-spinal-cord-of-amyotrophic-lateral-sclerosis-and-cerebrospinal-fluid-levels-correlate-with-disease-severity-and-progression
#20
Petra Steinacker, Federico Verde, Lubin Fang, Emily Feneberg, Patrick Oeckl, Sigrun Roeber, Sarah Anderl-Straub, Adrian Danek, Janine Diehl-Schmid, Klaus Fassbender, Klaus Fliessbach, Hans Foerstl, Armin Giese, Holger Jahn, Jan Kassubek, Johannes Kornhuber, G Bernhard Landwehrmeyer, Martin Lauer, Elmar Hans Pinkhardt, Johannes Prudlo, Angela Rosenbohm, Anja Schneider, Matthias L Schroeter, Hayrettin Tumani, Christine A F von Arnim, Jochen Weishaupt, Patrick Weydt, Albert C Ludolph, Deniz Yilmazer Hanke, Markus Otto
OBJECTIVES: Neurochemical markers of amyotrophic lateral sclerosis (ALS) that reflect underlying disease mechanisms might help in diagnosis, staging and prediction of outcome. We aimed at determining the origin and differential diagnostic and prognostic potential of the putative marker of microglial activation chitotriosidase (CHIT1). METHODS: Altogether 316 patients were included, comprising patients with sporadic ALS, ALS mimics (disease controls (DCo)), frontotemporal lobar degeneration (FTLD), Creutzfeldt-Jakob disease (CJD), Alzheimer's disease (AD), Parkinson's disease (PD) and healthy controls (Con)...
November 15, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
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