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Creutzfeldt-jakob disease

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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/29434023/cerebellar-ataxia-as-a-first-manifestation-of-creutzfeldt-jakob-disease-in-two-cousins
#2
Marta Waliszewska-Prosół, Krystian Obara, Paweł Szewczyk, Małgorzata Śniatowska, Sławomir Budrewicz
No abstract text is available yet for this article.
February 6, 2018: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29432500/large-animals-as-potential-models-of-human-mental-and-behavioral-disorders
#3
REVIEW
Michał Danek, Janusz Danek, Aleksander Araszkiewicz
Many animal models in different species have been developed for mental and behavioral disorders. This review presents large animals (dog, ovine, swine, horse) as potential models of this disorders. The article was based on the researches that were published in the peer-reviewed journals. Aliterature research was carried out using the PubMed database. The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Diseases and Related Health Problems 10thRevision (ICD-10), in particular regarding: organic, including symptomatic, disorders; mental disorders (Alzheimer's disease and Huntington's disease, pernicious anemia and hepatic encephalopathy, epilepsy, Parkinson's disease, Creutzfeldt-Jakob disease); behavioral disorders due to psychoactive substance use (alcoholic intoxication, abuse of morphine); schizophrenia and other schizotypal disorders (puerperal psychosis); mood (affective) disorders (depressive episode); neurotic, stress-related and somatoform disorders (posttraumatic stress disorder, obsessive-compulsive disorder); behavioral syndromes associated with physiological disturbances and physical factors (anxiety disorders, anorexia nervosa, narcolepsy); mental retardation (Cohen syndrome, Down syndrome, Hunter syndrome); behavioral and emotional disorders (attention deficit hyperactivity disorder)...
December 30, 2017: Psychiatria Polska
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
#4
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
#5
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/29414853/the-structure-of-prpsc-prions
#6
REVIEW
Holger Wille, Jesús R Requena
PrPSc (scrapie isoform of the prion protein) prions are the infectious agent behind diseases such as Creutzfeldt-Jakob disease in humans, bovine spongiform encephalopathy in cattle, chronic wasting disease in cervids (deer, elk, moose, and reindeer), as well as goat and sheep scrapie. PrPSc is an alternatively folded variant of the cellular prion protein, PrPC, which is a regular, GPI-anchored protein that is present on the cell surface of neurons and other cell types. While the structure of PrPC is well studied, the structure of PrPSc resisted high-resolution determination due to its general insolubility and propensity to aggregate...
February 7, 2018: Pathogens
https://www.readbyqxmd.com/read/29411683/case-report-a-patient-with-spinocerebellar-ataxia-type-31-and-sporadic-creutzfeldt-jakob-disease
#7
Natsumi Saito, Tomohiko Ishihara, Kensaku Kasuga, Mana Nishida, Takanobu Ishiguro, Hiroaki Nozaki, Takayoshi Shimohata, Osamu Onodera, Masatoyo Nishizawa
We report a Japanese patient with spinocerebellar ataxia type 31 (SCA31) and sporadic Creutzfeldt-Jakob disease (sCJD). A 52-year-old man developed progressive cognitive impairment after the appearance of cerebellar symptoms. Brain MR diffusion-weighted imaging (DWI) demonstrated a slowly expanding hyperintense lesion in the cerebral cortex. The patient was finally diagnosed as having both SCA31 and sCJD by identification of genetic mutations and by real-time quaking-induced conversion (RT-QUIC) analysis of the cerebrospinal fluid (CSF), respectively...
February 7, 2018: Prion
https://www.readbyqxmd.com/read/29406965/experimental-sheep-bse-prions-generate-the-vcjd-phenotype-when-serially-passaged-in-transgenic-mice-expressing-human-prion-protein
#8
Susan Joiner, Emmanuel A Asante, Jacqueline M Linehan, Lara Brock, Sebastian Brandner, Susan J Bellworthy, Marion M Simmons, James Hope, John Collinge, Jonathan D F Wadsworth
The epizootic prion disease of cattle, bovine spongiform encephalopathy (BSE), causes variant Creutzfeldt-Jakob disease (vCJD) in humans following dietary exposure. While it is assumed that all cases of vCJD attributed to a dietary aetiology are related to cattle BSE, sheep and goats are susceptible to experimental oral challenge with cattle BSE prions and farmed animals in the UK were undoubtedly exposed to BSE-contaminated meat and bone meal during the late 1980s and early 1990s. Although no natural field cases of sheep BSE have been identified, it cannot be excluded that some BSE-infected sheep might have entered the European human food chain...
March 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29403351/hemoglobin-mrna-changes-in-the-frontal-cortex-of-patients-with-neurodegenerative-diseases
#9
Silvia Vanni, Marco Zattoni, Fabio Moda, Giorgio Giaccone, Fabrizio Tagliavini, Stéphane Haïk, Jean-Philippe Deslys, Gianluigi Zanusso, James W Ironside, Margarita Carmona, Isidre Ferrer, Gabor G Kovacs, Giuseppe Legname
Background: Hemoglobin is the major protein found in erythrocytes, where it acts as an oxygen carrier molecule. In recent years, its expression has been reported also in neurons and glial cells, although its role in brain tissue remains still unknown. Altered hemoglobin expression has been associated with various neurodegenerative disorders. Here, we investigated hemoglobin mRNA levels in brains of patients affected by variant, iatrogenic, and sporadic forms of Creutzfeldt-Jakob disease (vCJD, iCJD, sCJD, respectively) and in different genetic forms of prion diseases (gPrD) in comparison to Alzheimer's disease (AD) subjects and age-matched controls...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29399090/report-and-literature-review-on-two-cases-with-different-kinds-of-creutzfeldt-jakob-disease
#10
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
#11
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/29382530/biochemical-features-of-genetic-creutzfeldt-jakob-disease-with-valine-to-isoleucine-substitution-at-codon-180-on-the-prion-protein-gene
#12
Yoko Ito, Nobuo Sanjo, Masaki Hizume, Atsushi Kobayashi, Tetsuya Ohgami, Katsuya Satoh, Tsuyoshi Hamaguchi, Masahito Yamada, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Takanori Yokota
Valine-to-isoleucine substitution at codon 180 of the prion protein gene is only observed in patients with Creutzfeldt-Jakob disease and accounts for approximately half of all cases of genetic prion disease in Japan. In the present study, we investigated the biochemical characteristics of valine-to-isoleucine substitution at codon 180 in the prion protein gene, using samples obtained from the autopsied brains of seven patients with genetic Creutzfeldt-Jakob disease exhibiting this mutation (diagnoses confirmed via neuropathological examination)...
January 27, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29380664/wernicke-korsakoff-syndrome-as-a-rare-phenotype-of-sporadic-creutzfeldt-jakob-disease
#13
Joanna Bielewicz, Anna Szczepańska-Szerej, Magdalena Ogórek, Piotr Dropko, Katarzyna Wojtal, Konrad Rejdak
We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs...
January 30, 2018: Prion
https://www.readbyqxmd.com/read/29369829/primary-angiitis-of-the-central-nervous-system-mimicking-sporadic-creutzfeldt-jakob-disease-a-case-study
#14
Dian He, Gang Cai, Yan Li, Qi Liu, Kang Xiao, ChunTing Liu, Lan Chu, Shan Wu, Fang Liu, MingYao You, WeiJia Jiang
No abstract text is available yet for this article.
January 29, 2018: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/29368621/the-csf-neurofilament-light-signature-in-rapidly-progressive-neurodegenerative-dementias
#15
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/29365304/creutzfeldt-jakob-disease
#16
Reshma Narula, Sule Tinaz
No abstract text is available yet for this article.
January 25, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29359329/creutzfeldt-jakob-disease-and-blood-transfusion-safety
#17
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/29357384/regional-and-subtype-dependent-mirna-signatures-in-sporadic-creutzfeldt-jakob-disease-are-accompanied-by-alterations-in-mirna-silencing-machinery-and-biogenesis
#18
Franc Llorens, Katrin Thüne, Eulàlia Martí, Eirini Kanata, Dimitra Dafou, Daniela Díaz-Lucena, Ana Vivancos, Orr Shomroni, Saima Zafar, Matthias Schmitz, Uwe Michel, Natalia Fernández-Borges, Olivier Andréoletti, José Antonio Del Río, Juana Díez, Andre Fischer, Stefan Bonn, Theodoros Sklaviadis, Juan Maria Torres, Isidre Ferrer, Inga Zerr
Increasing evidence indicates that microRNAs (miRNAs) are contributing factors to neurodegeneration. Alterations in miRNA signatures have been reported in several neurodegenerative dementias, but data in prion diseases are restricted to ex vivo and animal models. The present study identified significant miRNA expression pattern alterations in the frontal cortex and cerebellum of sporadic Creutzfeldt-Jakob disease (sCJD) patients. These changes display a highly regional and disease subtype-dependent regulation that correlates with brain pathology...
January 22, 2018: PLoS Pathogens
https://www.readbyqxmd.com/read/29346380/rapidly-progressive-dementia-an-eight-year-2008-2016-retrospective-study
#19
Patil Anuja, Vishnu Venugopalan, Naheed Darakhshan, Pandit Awadh, Vinny Wilson, Goyal Manoj, Modi Manish, Lal Vivek
BACKGROUND AND PURPOSE: Rapidly progressive dementia (RPD) is an emergency in cognitive neurology, defined as cognitive impairment affecting the daily living activities developed over less than 1 year. This study investigated the profile of patients with rapidly progressive dementia at first presentation. METHODS: Retrospective case analysis was done in 187 patients with rapidly progressive dementia who presented to the Postgraduate Institute of Medical Education and Research, Chandigarh, India from January 2008 to August 2016...
2018: PloS One
https://www.readbyqxmd.com/read/29345730/regional-pattern-of-microgliosis-in-sporadic-creutzfeldt-jakob-disease-in-relation-to-phenotypic-variants-and-disease-progression
#20
Alessia Franceschini, Rosaria Strammiello, Sabina Capellari, Armin Giese, Piero Parchi
AIMS: To describe the regional profiles of microglial activation in sporadic Creutzfeldt-Jakob disease (sCJD) subtypes and analyse the influence of prion strain, disease duration and codon 129 genotype. METHODS: We studied the amount/severity and distribution of activated microglia, protease-resistant prion protein (PrPSc ) spongiform change, and astrogliosis in 8 regions of 57 brains representative of the entire spectrum of sCJD subtypes. RESULTS: In each individual subtype, the regional extent and distribution of microgliosis significantly correlated with PrPSc deposition and spongiform change, leading to subtype-specific "lesion profiles"...
January 18, 2018: Neuropathology and Applied Neurobiology
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