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Sample records for creutzfeldt-jakob disease patients

  1. Creutzfeldt-Jakob Disease

    Science.gov (United States)

    ... National Institute of Neurological Disorders and Stroke (NINDS). Enfermedad de Creutzfeldt-Jakob Dementia: Hope Through Research Information booklet about Alzheimer's disease, vascular dementia, and other types of dementia ...

  2. Creutzfeldt-Jakob disease

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    LIU Jian-rong

    2013-01-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a degenerative central nervous system (CNS disease caused by infection of prion protein (PrP, with clinical features including short course, rapid development and 100% mortality. This article aims to discuss the pathogenesis, histopathological features, clinical manifestations, electroencephalogram (EEG findings, imaging data and treatment progress of this disease based on literature review. Cerebrospinal fluid 14-3-3 protein detection, EEG and MRI are three important methods to make an early diagnosis on patients with suspected CJD, such as elderly patients with rapidly progressive dementia (RPD and young patients with mental symptoms involving multiple systems (MS.

  3. Prions in the urine of patients with variant Creutzfeldt-Jakob disease.

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    Moda, Fabio; Gambetti, Pierluigi; Notari, Silvio; Concha-Marambio, Luis; Catania, Marcella; Park, Kyung-Won; Maderna, Emanuela; Suardi, Silvia; Haïk, Stéphane; Brandel, Jean-Philippe; Ironside, James; Knight, Richard; Tagliavini, Fabrizio; Soto, Claudio

    2014-08-07

    Prions, the infectious agents responsible for transmissible spongiform encephalopathies, consist mainly of the misfolded prion protein (PrP(Sc)). The unique mechanism of transmission and the appearance of a variant form of Creutzfeldt-Jakob disease, which has been linked to consumption of prion-contaminated cattle meat, have raised concerns about public health. Evidence suggests that variant Creutzfeldt-Jakob disease prions circulate in body fluids from people in whom the disease is silently incubating. To investigate whether PrP(Sc) can be detected in the urine of patients with variant Creutzfeldt-Jakob disease, we used the protein misfolding cyclic amplification (PMCA) technique to amplify minute quantities of PrP(Sc), enabling highly sensitive detection of the protein. We analyzed urine samples from several patients with various transmissible spongiform encephalopathies (variant and sporadic Creutzfeldt-Jakob disease and genetic forms of prion disease), patients with other degenerative or nondegenerative neurologic disorders, and healthy persons. PrP(Sc) was detectable only in the urine of patients with variant Creutzfeldt-Jakob disease and had the typical electrophoretic profile associated with this disease. PrP(Sc) was detected in 13 of 14 urine samples obtained from patients with variant Creutzfeldt-Jakob disease and in none of the 224 urine samples obtained from patients with other neurologic diseases and from healthy controls, resulting in an estimated sensitivity of 92.9% (95% confidence interval [CI], 66.1 to 99.8) and a specificity of 100.0% (95% CI, 98.4 to 100.0). The PrP(Sc) concentration in urine calculated by means of quantitative PMCA was estimated at 1×10(-16) g per milliliter, or 3×10(-21) mol per milliliter, which extrapolates to approximately 40 to 100 oligomeric particles of PrP(Sc) per milliliter of urine. Urine samples obtained from patients with variant Creutzfeldt-Jakob disease contained minute quantities of PrP(Sc). (Funded by the

  4. Creutzfeldt-Jakob disease.

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    Iwasaki, Yasushi

    2017-04-01

    This review will explore the clinical and pathological findings of the various forms of Creutzfeldt-Jakob disease (CJD). Clinical findings of CJD are characterized by rapidly progressive cognitive dysfunction, diffusion-weighted magnetic resonance imaging (DWI) hyperintensity, myoclonus, periodic sharp-wave complexes on electroencephalogram and akinetic mutism state. Neuropathologic findings of CJD are characterized by spongiform changes in gray matter, gliosis-particularly hypertrophic astrocytosis-neuropil rarefaction, neuron loss and prion protein (PrP) deposition. The earliest pathological symptom observed by HE staining in the cerebral cortex is spongiform change. This spongiform change begins several months before clinical onset, and is followed by gliosis. Subsequently, neuropil rarefaction appears, followed by neuron loss. Regions showing fine vacuole-type spongiform change reflect synaptic-type PrP deposition and type 1 PrP(Sc) deposition, whereas regions showing large confluent vacuole-type spongiform changes reflect perivacuolar-type PrP deposition and type 2 PrP(Sc) deposition. Hyperintensities of the cerebral gray matter observed in DWI indicate the pathology of the spongiform change in CJD. The cerebral cortical lesions with large confluent vacuoles and type 2 PrP(Sc) show higher brightness and more continuous hyperintensity on DWI than those with fine vacuoles and type 1 PrP(Sc) . CJD cases showing diffuse myelin pallor of cerebral white matter have been described as panencephalopathic-type, and this white matter pathology is mainly due to secondary degeneration caused by cerebral cortical involvement, particularly in regard to neuron loss. In conclusion, clinical and neuroimaging findings and neuropathologic observations are well matched in both typical and atypical cases in CJD. The clinical diagnosis of CJD is relatively easy for typical CJD cases such as the MM1-type. However, even in atypical cases it seems that clinical findings can be used for

  5. Variant Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    E.A. Croes (Esther); C.M. van Duijn (Cock)

    2003-01-01

    textabstractA variant form of Creutzfeldt-Jakob disease (vCJD) has had major impact in Europe during the last decade. In this article, we review the aetiology of vCJD and its relation with bovine spongiform encephalopathy. Further, treatment of the disease, the strategies focusing on prevention of t

  6. [Delayed diagnosis in a patient with Creutzfeldt-Jakob disease in a psychiatric hospital].

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    Roest, S; Mestdagh, I; de Grave, C; Pals, P

    2016-01-01

    A 51-year-old female teacher of dance was referred to the diagnostic unit of our psychiatric hospital with symptoms of anxiety and depression. The clinical image was suggestive of organic pathology, but this could not be determined with certainty until a late stage. We discuss the course of the patient's illness. Her symptoms appeared to be psychiatric and closely resembled those of Creutzfeldt-Jakob disease. We comment on some of the signs that could have led to an earlier diagnosis and we discuss the tools that are needed.

  7. Creutzfeldt-Jakob disease

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    ... part of a funeral ritual) Scrapie (found in sheep) Other very rare inherited human diseases, such as ... markers that sometimes occur with the disease CT scan of the brain Electroencephalogram (EEG) MRI of the ...

  8. Creutzfeldt-Jakob Disease

    Science.gov (United States)

    ... to as “mad cow” disease; scrapie, which affects sheep and goats; mink encephalopathy; and feline encephalopathy. Similar ... to move and speak and enter a coma. Pneumonia and other infections often occur in these individuals ...

  9. The First Report of a Patient with Probable Variant Creutzfeldt-Jakob Disease in Turkey

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    Demet Özbabalık Adapınar

    2011-12-01

    Full Text Available Variant Creutzfeldt-Jakob disease (vCJD was first reported in the UK in 1996. Here, we report the first Turkish case of vCJD. A 47-year-old man, who has never lived outside of Turkey and had had no transfusion, was admitted to the University Hospital with speech disorder, cognitive decline and ataxia following depression, irritability, and personality change. The immunoassay of the 14-3-3 protein in the cerebrospinal fluid was negative. Brain magnetic resonance imaging revealed high-signal lesions involving the bilateral caudate and lentiform nucleus on T2- and diffusion-weighted imaging. The patient developed akinetic mutism 10 months after disease onset. The clinical presentation and neuroimaging findings were compatible with the vCJD cases reported since 1996 and met the World Health Organization’s case definition for probable vCJD.

  10. Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients

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    Hanae Takatsuki, PhD

    2016-10-01

    Full Text Available Human prion diseases are neurodegenerative disorders caused by abnormally folded prion proteins in the central nervous system. These proteins can be detected using the quaking-induced conversion assay. Compared with other bioassays, this assay is extremely sensitive and was used in the present study to determine prion distribution in sporadic Creutzfeldt-Jakob disease patients at autopsy. Although infectivity of the sporadic form is thought to be restricted within the central nervous system, results showed that prion-seeding activities reach 106/g from a 50% seeding dose in non-neuronal tissues, suggesting that prion-seeding activity exists in non-neural organs, and we suggested that non-neural tissues of 106/g SD50 did not exist the infectivity.

  11. CREUTZFELDT - JAKOB DISEASE : A CASE REPORT

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    Theophilus Premkumar

    2015-06-01

    Full Text Available Prion diseases are a group of fatal neurodegenerative diseases caused by the trans - formation of an endogenous protein, PrP (prion - related protein, into an abnormal conformation, the most common of which in humans is Creutzfeldt - Jakob disease. We report t he case of a 40 year old lady who presented with rapidly progressive dementia with pyramidal, extra - pyramidal, cerebellar symptoms, myoclonus and akinetic mutism. Her EEG showed typical periodic sharp wave complexes and MRI Brain revealed DWI>FLAIR intensi ty in bilateral caudate nuclei, putamen & bilateral subcortical frontal lobes . The clinico - radiological correlation was consistent with the diagnosis of Creutzfeldt - Jakob disease.

  12. A patient with a 'typical presentation' of Wernicke encephalopathy was found to have sporadic Creutzfeldt-Jakob disease.

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    Goossens, K; van Bruchem-Visser, R L

    2017-06-01

    Creutzfeldt-Jakob disease (CJD) has a significant degree of clinical heterogeneity that is especially found in the features at onset. Here we present a patient with the sporadic form of CJD mimicking Wernicke encephalopathy. We first treated him with a high dose of thiamine; however, the vitamin B1 levels proved to be normal, which ruled out Wernicke encephalopathy. Meanwhile, his clinical condition progressively worsened and he developed a rapidly progressive cognitive disorder, mutism and myoclonus of the muscles. At this point, the diagnosis of CJD was most likely. The patient died two months after the first symptoms. Autopsy showed prion-protein depositions in several regions. Genetic analysis was negative for familial CJD. Those findings confirmed the diagnosis of 'sporadic Creutzfeldt-Jakob disease'. CJD presents in a wide range of sequences and clinical symptoms. Therefore, recognition in the early stage can be difficult.

  13. Sleep Pathology in Creutzfeldt-Jakob Disease

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    Kang, Peter; de Bruin, Gabriela S.; Wang, Leo H.; Ward, Beth A.; Ances, Beau M.; Lim, Miranda M.; Bucelli, Robert C.

    2016-01-01

    Study Objectives: Associations between sleep and neurodegenerative diseases have become increasingly evident. This study aims to characterize the prevalence and type of sleep pathology in Creutzfeldt-Jakob disease (CJD), a rapidly progressive, fatal neurodegenerative disease. Methods: In this observational cross-sectional cohort study, we performed a retrospective analysis of sleep signs and symptoms in a consecutive group of patients with definite CJD at a tertiary care medical center (n = 28). Polysomnography was performed in 14 patients. Results: Although only 5 of 28 patients carried a premorbid sleep diagnosis, signs/symptoms of sleep pathology were present in 25 patients. Eleven reported hypersomnia whereas 13 reported insomnia. Seven had restless legs symptoms and/or periodic limb movements of sleep, and nine reported parasomnias. Of the 14 patients who underwent polysomnography, 1 did not show sleep, 9 (69%) had poorly formed or absent sleep spindles and/or K-complexes, and 10 (77%) had sleep-disordered breathing. Of the 8 patients who experienced rapid eye movement (REM) sleep during the polysomnography, 3 (38%) showed REM sleep without atonia, and 2 patients met criteria for REM sleep behavior disorder. Median total sleep time was 226 (interquartile range [IQR] = 195–282) min. Median sleep efficiency was 58.5% (IQR = 41–65.5 %). Median REM time was 0.35% (IQR = 0–7.125%). Five patients (38%) demonstrated periodic limb movements during polysomnography. One case is presented. Conclusions: Sleep pathology is common in CJD, and screening for sleep pathology is indicated in the evaluation of patients with rapidly progressive dementias. Early identification and treatment of sleep pathology may provide an intervenable target for CJD. Citation: Kang P, de Bruin GS, Wang LH, Ward BA, Ances BM, Lim MM, Bucelli RC. Sleep pathology in Creutzfeldt-Jakob disease. J Clin Sleep Med 2016;12(7):1033–1039. PMID:27250807

  14. Codon 219 polymorphism of PRNP in healthy caucasians and Creutzfeldt-Jakob disease patients

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    Petraroli, R.; Pocchiari, M. [Instituto Superiore di Sanita, Rome (Italy)

    1996-04-01

    A number of point and insert mutations of the PrP gene (PRNP) have been linked to familial Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Scheinker disease (GSS). Moreover, the methionine/valine homozygosity at the polymorphic codon 129 of PRNP may cause a predisposition to sporadic and iatrogenic CJD or may control the age at onset of familial cases carrying either the 144-bp insertion or codon 178, codon 198, and codon 210 pathogenic mutations in PRNP. In addition, the association of methionine or valine at codon 129 and the point mutation at codon 178 on the same allele seem to play an important role in determining either fatal familial insomnia or CJD. However, it is noteworthy that a relationship between codon 129 polymorphism and accelerated pathogenesis (early age at onset or shorter duration of the disease) has not been seen in familial CJD patients with codon 200 mutation or in GSS patients with codon 102 mutation, arguing that other, as yet unidentified, gene products or environmental factors, or both, may influence the clinical expression of these diseases. 17 refs.

  15. Regulation of human cerebrospinal fluid malate dehydrogenase 1 in sporadic Creutzfeldt-Jakob disease patients

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    Schmitz, Matthias; Llorens, Franc; Pracht, Alexander; Thom, Tobias; Correia, Ângela; Zafar, Saima; Ferrer, Isidre; Zerr, Inga

    2016-01-01

    The identification of reliable diagnostic biomarkers in differential diagnosis of neurodegenerative diseases is an ongoing topic. A previous two-dimensional proteomic study on cerebrospinal fluid (CSF) revealed an elevated level of an enzyme, mitochondrial malate dehydrogenase 1 (MDH1), in sporadic Creutzfeldt-Jakob disease (sCJD) patients. Here, we could demonstrate the expression of MDH1 in neurons as well as in the neuropil. Its levels are lower in sCJD brains than in control brains. An examination of CSF-MDH1 in sCJD patients by ELISA revealed a significant elevation of CSF-MDH1 levels in sCJD patients (independently from the PRNP codon 129 MV genotype or the prion protein scrapie (PrPSc) type) in comparison to controls. In combination with total tau (tau), CSF-MDH1 detection exhibited a high diagnostic accuracy for sCJD diagnosis with a sensitivity of 97.5% and a specificity of 95.6%. A correlation study of MDH1 level in CSF with other neurodegenerative marker proteins revealed a significant positive correlation between MDH1 concentration with tau, 14-3-3 and neuron specific enolase level. In conclusion, our study indicated the potential of MDH1 in combination with tau as an additional biomarker in sCJD improving diagnostic accuracy of tau markedly. PMID:27852982

  16. Detection of prions in blood from patients with variant Creutzfeldt-Jakob disease.

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    Concha-Marambio, Luis; Pritzkow, Sandra; Moda, Fabio; Tagliavini, Fabrizio; Ironside, James W; Schulz, Paul E; Soto, Claudio

    2016-12-21

    Human prion diseases are infectious and invariably fatal neurodegenerative diseases. They include sporadic Creutzfeldt-Jakob disease (sCJD), the most common form, and variant CJD (vCJD), which is caused by interspecies transmission of prions from cattle infected by bovine spongiform encephalopathy. Development of a biochemical assay for the sensitive, specific, early, and noninvasive detection of prions (PrP(Sc)) in the blood of patients affected by prion disease is a top medical priority to increase the safety of the blood supply. vCJD has already been transmitted from human to human by blood transfusion, and the number of asymptomatic carriers of vCJD in the U.K. alone is estimated to be 1 in 2000 people. We used the protein misfolding cyclic amplification (PMCA) technique to analyze blood samples from 14 cases of vCJD and 153 controls, including patients affected by sCJD and other neurodegenerative or neurological disorders as well as healthy subjects. Our results showed that PrP(Sc) could be detected with 100% sensitivity and specificity in blood samples from vCJD patients. Detection was possible in any of the blood fractions analyzed and could be done with as little as a few microliters of sample volume. The PrP(Sc) concentration in blood was estimated to be ~0.5 pg/ml. Our findings suggest that PMCA may be useful for premortem noninvasive diagnosis of vCJD and to identify prion contamination of the blood supply. Further studies are needed to fully validate the technology. Copyright © 2016, American Association for the Advancement of Science.

  17. Myoclonus in Creutzfeldt-Jakob disease: polygraphic and video-electroencephalography assessment of 109 patients.

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    Binelli, Simona; Agazzi, Pamela; Canafoglia, Laura; Scaioli, Vidmer; Panzica, Ferruccio; Visani, Elisa; Di Fede, Giuseppe; Giaccone, Giorgio; Bizzi, Alberto; Bugiani, Orso; Avanzini, Guiliano; Tagliavini, Fabrizio; Franceschetti, Silvana

    2010-12-15

    We used electroencephalography (EEG)-polygraphic recordings to classify myoclonus in 109 patients with Creutzfeldt-Jakob disease (CJD) on the basis of its electromyography (EMG) pattern, time course, distribution, and EEG correlates. We recorded myoclonic jerks in 55 patients (50.4%), and we classified them as periodic myoclonus in 28, rhythmic in 13, and irregular in 20 (6 patients showed two types of myoclonus). Myoclonus occurred as a prominently negative event (interrupting the EMG discharge) in 10. Periodic sharp-wave complexes (PSWCs) were present in all but one patient with myoclonic jerks but were time-locked with EMG-bursts only in case of periodic myoclonus. Jerk-locked back averaging revealed a variable EEG-EMG transfer-time commonly exceeding that characterizing cortical myoclonus. Myoclonus was frequently associated with Met/Met polymorphism at codon 129 of the prion protein gene, but it was also observed in association with Met/Val or Val/Val polymorphisms provided that the EEG showed the presence of the PSWC pattern. The presence of enlarged somatosensory evoked potentials significantly correlated with the myoclonic presentation, as did MR signal hyperintensity involving the cortical mantle. Our observations on the basis of standard polygraphic criteria suggest that CJD associates with a remarkable variety of myoclonic jerks, and therefore different brain structures are probably involved as generators. The significant association between the presence of all myoclonus types with PSWCs suggests that hyperexcitable corticosubcortical loops are always required to generate (or allow) both myoclonus and the EEG complexes, either they are time locked or not.

  18. Creutzfeldt-Jakob Disease and Infection Control

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    Lynn Johnston

    2001-01-01

    Full Text Available Over the past year, several situations have occurred in Canada in which patients who had recently undergone a surgical procedure were subsequently diagnosed with confirmed or suspected Creutzfeldt-Jakob disease (CJD. This raised concerns over contamination of surgical instruments: which instruments might have been contaminated from direct exposure to tissues; can instruments become cross-contaminated by exposure to other contaminated instruments; what assessment is necessary to determine cross-contamination; and what should be done with instruments that have been contaminated. Additionally, should there be a patient traceback in the face of potential but unproven exposure? Unfortunately, there are no easy answers to most of the above questions. Australia, the United Kingdom and the World Health Organization have developed guidelines for the infection control management of patients with CJD, as well as instruments and devices that come into contact with them and their tissues (1-3. Health Canada's draft CJD infection control guidelines, withdrawn from the Health Canada Web site until safety concerns regarding sodium hydroxide can be addressed, closely mirrored recommendations made in those documents. The Centers for Disease Control and Prevention guidelines for CJD are under revision. However, a recent American publication made recommendations on what procedures should be used for reprocessing items that have been in contact with the prion protein (PrP (4. These recommendations differ substantially from the draft Canadian guidelines. This article reviews current knowledge about CJD, and highlights some of the infection control concerns and controversies.

  19. Cortical restricted diffusion as the predominant MRI finding in sporadic Creutzfeldt-Jakob disease

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    Talbott, Sabrina D.; Sattenberg, Ronald J.; Heidenreich, Jens O. (Dept. of Radiology, Univ. of Louisville, Louisville (United States)), e-mail: sdtalb02@gwise.louisville.edu; Plato, Brian M (Dept. of Neurology, Univ. of Louisville, Louisville (United States)); Parker, John (Dept. of Pathology and Laboratory Medicine, Univ. of Louisville, Louisville (United States))

    2011-04-15

    Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder with MR findings predominantly limited to the grey matter of the cortex and the basal ganglia. Sporadic Creutzfeldt-Jakob disease can produce a spectrum of MR imaging findings of the brain, most notably on DWI and FLAIR sequences. Involvement of the basal ganglia and neocortex is the most common finding, but isolated involvement of the cortex can also be seen. We describe the clinical history and MRI findings of three patients with sporadic Creutzfeldt-Jakob disease confirmed by brain biopsy or autopsy and review the literature of imaging manifestations of this disease

  20. Creutzfeldt-Jakob disease presenting as bulbar palsy.

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    Mittal, Manoj; Hammond, Nancy; Husmann, Kathrin; Lele, Abhijit; Pasnoor, Mamatha

    2010-11-01

    Creutzfeldt-Jakob disease (CJD) is a degenerative neurological disorder caused by a prion protein. The diagnosis may be challenging in unusual early presentations. A bulbar symptom as the initial complaint is a rare presentation for CJD, with only a few reports so far. These patients can be misdiagnosed with motor neuron disease or the Miller Fisher variant of Guillain-Barré syndrome. We describe a 69-year-old woman with CJD who presented with bulbar symptoms at the onset.

  1. Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study.

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    Shrestha, Rajeet; Trauger-Querry, Barbara; Loughrin, Athena; Appleby, Brian S

    2016-01-01

    This paper describes the diagnostic and treatment utility of visual art therapy in a case of sporadic Creutzfeldt-Jakob disease. Visual art therapy was compared longitudinally with clinical and neuroimaging data over five-month period in an autopsy-confirmed case of sporadic Creutzfeldt-Jakob disease of MM2-cortical subtype. Art therapy sessions and content were useful in ascertaining neuropsychiatric symptoms during the course of her illness. Art therapy offered a unique emotional and cognitive outlet as illness progressed. Patients and families affected by sporadic Creutzfeldt-Jakob disease may benefit from art therapy despite the rapidly progressive nature of the illness. Art therapy can also be useful for assessment of patients with sporadic Creutzfeldt-Jakob disease by healthcare professionals.

  2. Long term survival in a patient with variant Creutzfeldt-Jakob disease treated with intraventricular pentosan polysulphate.

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    Parry, A; Baker, I; Stacey, R; Wimalaratna, S

    2007-07-01

    Variant Creutzfeldt-Jakob disease (vCJD) is a neurodegenerative disease that principally affects young people and has a median duration of illness of 13 (range 6-39) months. vCJD is incurable and there are currently no treatments that conclusively slow the rate of disease progression. However, recent animal studies and isolated case reports have suggested that treatment with intraventricular pentosan polysulphate (PPS) may be beneficial in the treatment of patients with vCJD. We report a case of a 22-year-old male with vCJD treated 19 months after the onset of clinical symptoms with continuous intraventricular PPS (32 microg/kg/day) over a period of 31 months. Treatment with PPS appeared to be safe and well tolerated and was associated with prolonged survival (51 months) when compared to natural history studies. However, PPS treatment did not appear to arrest the progression of the disease.

  3. Radiological assessment of Creutzfeldt-Jakob disease

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    Tschampa, Henriette J.; Urbach, Horst [University of Bonn, Department of Radiology, Bonn (Germany); Zerr, Inga [University of Goettingen, National Reference Center for TSE Surveillance at the Department of Neurology, Goettingen (Germany)

    2007-05-15

    Creutzfeldt-Jakob disease is a rare fatal neurodegenerative disorder, characterized by rapidly progressive dementia and neurological signs. There is a need for early and accurate clinical diagnosis in order to exclude any treatable disorder. Additionally, it is of public interest to differentiate the sporadic form of the disease from the variant CJD type (vCJD), which is probably transmitted from cattle infected with bovine spongiform encephalopathy (BSE). High signal in the striatum on T2-weighted, FLAIR and diffusion weighted (DW) MRI as well as cortical high signal in FLAIR and DW MRI are the classical findings in sCJD. The ''pulvinar sign'', defined as high signal in the pulvinar thalami that is brighter than potential additional high signal in the basal ganglia, is considered pathognomonic for vCJD. (orig.)

  4. Creutzfeldt-Jakob disease: the value of MRI; Creutzfeldt-Jakob-Krankheit: Stellenwert der MRT

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    Urbach, H.; Tschampa, H.J.; Keller, E.; Schild, H.H. [Radiologische Klinik, Neuroradiologie, Rheinische Friedrich-Wilhelms-Univ. Bonn (Germany); Paus, S. [Neurologische Klinik, Rheinische Friedrich-Wilhelms-Univ. Bonn (Germany)

    2001-06-01

    To define the role of MRI in the diagnosis of Creutzfeldt-Jakob disease (CJD). Methods: 14 patients with suspected CJD were studied within 3 years. MRI findings were correlated with WHO established diagnostic criteria (clinical findings, EEG, CSF with 14-3-3 protein assay). Results: 12 patients had CJD. One patient each suffered from Hashimoto's encephalitis and ALS dementia complex, respectively. Nine of 12 CJD patients had increased signal intensity of the striatum (n = 8), pulvinar thalami (n = 5) and/or cerebellar and cerebral cortex (n = 3), respectively. Signal intensity was most pronounced on FLAIR sequences; six patients were studied with diffusion-weighted MRI and showed impaired diffusion in these areas. Both patients without CJD did not show the abovementioned signal changes (sensitivity 75%, specificity and positive predictive value 100%, respectively). Conclusion: If patients with suspected CJD are studied with FLAIR and diffusion-weighted sequences, this disorder can reliably be proven or ruled out. Typical MRI findings narrow down the differential diagnosis and should be included in the WHO diagnostic criteria. (orig.) [German] Bestimmung des Stellenwerts der MRT in der Diagnostik der Creutzfeldt-Jakob-Krankheit (CJK). Methoden: Analyse der MRTs von 14 innerhalb von drei Jahren mit Verdacht auf CJK zugewiesenen Patienten. Korrelation der MRTs mit den entsprechend den WHO-Diagnosekriterien etablierten Untersuchungsverfahren (Klinik, EEG, Liquor mit 14-3-3 Protein-Nachweis). Ergebnisse: 12 Patienten hatten eine CJK, jeweils ein Patient hatte eine Hashimoto-Enzephalitis bzw. einen ALS-Demenz-Komplex. Bei 9 der 12 CJK-Patienten fanden sich beidseits Signalerhoehungen des Striatum (n = 8), des Pulvinar thalami (n = 5) und/oder des Kleinhirn- bzw. Grosshirnkortex (n = 3). Die Signalerhoehungen waren am deutlichsten auf FLAIR-Aufnahmen erkennbar; 6 mit diffusionsgewichteter MRT untersuchte Patienten wiesen eine eingeschraenkte Diffusion dieser Areale

  5. Imaging and clinical characteristics of sporadic Creutzfeldt-Jakob disease

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    HAN Shun-chang

    2013-04-01

    Full Text Available Five patients with sporadic Creutzfeldt-Jakob disease (sCJD presented rapidly progressive dementia which were subacute onset from 1 to 4 months. Among these cases, periodic synchronous discharge (PSD of electroencephalography (EEG was seen in 2 patients. Besides, 4 patients obtained positive results in cerebrospinal fluid (CSF analysis for 14-3-3 protein. The cranial MRI examination showed symmetrical or asymmetrical colored-ribbon-shaped high signals in cerebral cortex or basal ganglia by diffusion weighted imaging (DWI, suggesting that DWI had high sensitivity and specificity for the diagnosis of sCJD as a preferred method in the clinical examination of sCJD.

  6. Diffusion MR imaging in sporadic Creutzfeldt-Jakob disease

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    Burcak Cakir Pekoz

    2014-08-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a rare dementing disease and is thought to caused by a prion. It is characterized by rapidly progressive dementia, ataxia, myoclonus, akinetic mutism and eventual death. Brain biopsy or autopsy is required for a definitive diagnosis of CJD. Diffusion-weighted imaging became an important tool for early diagnosis of CJD because of the high sensitivity. We present 59-year-old female patient diagnosed as sporadic CJD with typical MR imagings. [Cukurova Med J 2014; 39(4.000: 880-883

  7. [Perioperative considerations for performing a brain biopsy on a patient with subtype VV2 sporadic Creutzfeldt-Jakob disease].

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    Guerrero-Domínguez, R; Rubio-Romero, R; González-González, G; Jiménez, I

    2015-04-01

    Creutzfeldt-Jakob disease (CJD) is the most common transmissible spongiform encephalopathy. It is an infectious, progressive, degenerative neurological disorder, with a presumably long incubation period, but a rapid fatal course. CJD is transmitted by a proteinaceous infectious agent, or «prion». Because the prions are difficult to eradicate and are resistant to the currently used sterilization methods, special precautions must be taken with all surgical instruments. It is recommended the single-use equipment, destruction of contaminated equipment, decontamination of reusable instruments, use of protective clothing, and storing and quarantining surgical instruments. The single-use equipment and some tissues and body fluids from the patient with CJD are highly infectious and must be incinerated. We report a case of a patient who had undergone brain biopsy for suspected of CJD, being confirmed to have sporadic CJD. Specific preventive measures were taken to reduce the risk of transmission to healthcare workers. Copyright © 2014 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Sporadic Creutzfeldt-Jakob Disease (sCJD)

    Centers for Disease Control (CDC) Podcasts

    2009-02-03

    In this podcast, Dr. Lynne Sehulster discusses Creutzfeldt-Jakob disease, a rare neurodegenerative disease. This disease is caused by a pathological accumulation in the brain of an abnormal protein known as prions.  Created: 2/3/2009 by Emerging Infectious Diseases.   Date Released: 2/3/2009.

  9. Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders.

    Directory of Open Access Journals (Sweden)

    Sol Moe Lee

    Full Text Available Inherited prion diseases (IPDs, including genetic Creutzfeldt-Jakob disease (gCJD, account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP. The valine to isoleucine substitution at codon 180 (V180I of PRNP is the most common pathogenic mutation causing gCJD in East Asian patients. In this study, we conducted follow-up analyses to identify candidate factors and their associations with disease onset. Whole-genome sequencing (WGS data of five gCJD patients with V180I mutation and 145 healthy individuals were used to identify genomic differences. A total of 18,648,850 candidate variants were observed in only the patient group, 29 of them were validated as variants. Four of these validated variants were nonsense mutations, six were observed in genes directly or indirectly related to neurodegenerative disorders (NDs, such as LPA, LRRK2, and FGF20. More than half of validated variants were categorized in Gene Ontology (GO terms of binding and/or catalytic activity. Moreover, we found differential genome variants in gCJD patients with V180I mutation, including one uniquely surviving 10 years after diagnosis of the disease. Elucidation of the relationships between gCJD and Alzheimer's disease or Parkinson's disease at the genomic level will facilitate further advances in our understanding of the specific mechanisms mediating the pathogenesis of NDs and gold standard therapies for NDs.

  10. A case of pure autotopagnosia following Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Tamura, Itaru; Hamada, Shinsuke; Soma, Hiroyuki; Moriwaka, Fumio; Tashiro, Kunio

    2016-12-02

    A 69-year-old male (N.A.) with Creutzfeldt-Jakob disease showed pure autotopagnosia. We administered tests evaluating his ability to name his own body parts, to point to body parts (his own and examiner's), and to recognize positional relationships between his body parts by verbal questions and responses. We found impaired localization of the patient's own body parts by pointing and impaired recognition of positional relationships between his body parts. However, there was no impairment in naming his own body parts or in localizing the examiner's body parts. The results suggest a pure autotopagnosia in N.A. leading to an impairment of recognition of the spatial position of his body parts in a three-dimensional body representation within the egocentric reference frame. We were able to rule out the possibility that his pattern of performance could have been due to a disability in programming reaching movements of the arm.

  11. An unusual case of sporadic Creutzfeldt-Jakob disease (CJD).

    Science.gov (United States)

    Javed, Qaiser; Alam, Faouzi; Krishna, Sowmya; Jaganathan, Geetha

    2010-01-01

    A 49-year-old healthy white British female, not previously known to psychiatric services, presented with an acute onset of florid psychotic symptoms. Her symptoms included visual, auditory and tactile hallucinations as well as persecutory delusions. She was started on antipsychotic medication; however, her psychotic symptoms did not improve significantly in the first 3 months. Her blood tests were normal. Lumbar puncture was performed which was positive for protein 14-3-3. A computed tomography scan of the brain showed generalised atrophic changes. The history of early visual hallucinations, rapid cognitive decline and positive 14-3-3 result was in keeping with the Heidenhain variant of sporadic Creutzfeldt-Jakob disease (sCJD). Despite a short life expectancy as reported in literature, our patient, who was diagnosed with sCJD more than two-and-a-half years ago, is still alive. We therefore believe this is an important finding to report.

  12. CSF Neurofilament Proteins Levels are Elevated in Sporadic Creutzfeldt-Jakob Disease

    NARCIS (Netherlands)

    van Eijk, Jeroen J. J.; van Everbroeck, Bart; Abdo, W. Farid; Kremer, Berry P. H.; Verbeek, Marcel M.

    2010-01-01

    In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease

  13. CSF neurofilament proteins levels are elevated in sporadic Creutzfeldt-Jakob disease.

    NARCIS (Netherlands)

    Eijk, J.J.J. van; Everbroeck, B. van; Abdo, W.; Kremer, H.P.H.; Verbeek, M.M.

    2010-01-01

    In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease

  14. CSF Neurofilament Proteins Levels are Elevated in Sporadic Creutzfeldt-Jakob Disease

    NARCIS (Netherlands)

    van Eijk, Jeroen J. J.; van Everbroeck, Bart; Abdo, W. Farid; Kremer, Berry P. H.; Verbeek, Marcel M.

    2010-01-01

    In this study we investigated the cerebrospinal fluid (CSF) levels of neurofilament light (NFL) and heavy chain (NFHp35), total tau (t-tau), and glial fibrillary acidic protein (GFAP) to detect disease specific profiles in sporadic Creutzfeldt Jakob disease (sCJD) patients and Alzheimer's disease (A

  15. Risk factors for Creutzfeldt-Jakob disease: a reanalysis of case-control studies.

    NARCIS (Netherlands)

    D.P.W.M. Wientjens (Dorothee); Z. Davanipour; K. Kondo; W.B. Matthews; R.G. Will (Robert); C.M. van Duijn (Cock); A. Hofman (Albert)

    1996-01-01

    textabstractTo review the evidence for risk factors of Creutzfeldt-Jakob disease (CJD), we pooled and reanalyzed the raw data of three case-control studies. The pooled data set comprised 178 patients and 333 control subjects. The strength of association between CJD and putative risk factors was asse

  16. Creutzfeldt-Jakob disease 38 years after diagnostic use of human growth hormone

    NARCIS (Netherlands)

    E.A. Croes (Esther); G. Roks (Gerwin); G.H. Jansen; P.C. Nijssen; C.M. van Duijn (Cock)

    2002-01-01

    textabstractA 47 year old man is described who developed pathology proven Creutzfeldt-Jakob disease (CJD) 38 years after receiving a low dose of human derived growth hormone (hGH) as part of a diagnostic procedure. The patient presented with a cerebellar syndrome, which is compatible with iatrogenic

  17. Determination of neuronal antibodies in suspected and definite Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    O. Grau-Rivera (Oriol); R. Sánchez-Valle (Raquel); A. Saiz (Albert Abe); J.L. Molinuevo (José Luis); R. Bernabé (Reyes); E. Munteis (Elvira); F. Pujadas (Francesc); A. Salvador (Antoni); J. Saura (Júlia); A. Ugarte (Antonio); M.J. Titulaer (Maarten); J. Dalmau (Josep); F. Graus (Francesc)

    2014-01-01

    textabstractIMPORTANCE: Creutzfeldt-Jakob disease (CJD) and autoimmune encephalitis with antibodies against neuronal surface antigens (NSA-abs) may present with similar clinical features. Establishing the correct diagnosis has practical implications in the management of care for these patients.

  18. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

    NARCIS (Netherlands)

    P. Sanchez-Juan (Pascual); M.T. Bishop (Matthew); G.G. Kovacs (Gabor); M. Calero (Miguel); Y.S. Aulchenko (Yurii); A. Ladogana (Anna); A. Boyd (Alison); V. Lewis (Victoria); C. Ponto (Claudia); Calero, O. (Olga); A. Poleggi (Anna); A. Carracedo (Angel); S. van der Lee (Sven); T. Ströbel (Thomas); F. Rivadeneira Ramirez (Fernando); A. Hofman (Albert); S. Haik; O. Combarros (Onofre); J. Berciano (José); A.G. Uitterlinden (André); S.J. Collins (Steven); H. Budka (Herbert); J-P. Brandel (Jean-Philippe); J.-L. Laplanche (Jean-Louis); M. Pocchiari (Maurizio); I. Zerr (Inga); R. Knight (Richard); R.G. Will (Robert); C.M. van Duijn (Cock)

    2015-01-01

    textabstractWe performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a

  19. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk

    NARCIS (Netherlands)

    P. Sanchez-Juan (Pascual); M.T. Bishop (Matthew); G.G. Kovacs (Gabor); M. Calero (Miguel); Y.S. Aulchenko (Yurii); A. Ladogana (Anna); A. Boyd (Alison); V. Lewis (Victoria); C. Ponto (Claudia); Calero, O. (Olga); A. Poleggi (Anna); A. Carracedo (Angel); S. van der Lee (Sven); T. Ströbel (Thomas); F. Rivadeneira Ramirez (Fernando); A. Hofman (Albert); S. Haik; O. Combarros (Onofre); J. Berciano (José); A.G. Uitterlinden (André); S.J. Collins (Steven); H. Budka (Herbert); J-P. Brandel (Jean-Philippe); J.-L. Laplanche (Jean-Louis); M. Pocchiari (Maurizio); I. Zerr (Inga); R. Knight (Richard); R.G. Will (Robert); C.M. van Duijn (Cock)

    2015-01-01

    textabstractWe performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a multinat

  20. A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

    Science.gov (United States)

    Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

    2017-01-01

    Background. Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods. PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case. The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion. This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

  1. Symptomatic aggravation after corticosteroid pulse therapy in definite sporadic Creutzfeldt-Jakob disease with the feature of Hashimoto's encephalopathy.

    Science.gov (United States)

    Jang, Jae-Won; Park, So Young; Park, Young Ho; Kim, Jung E; Kim, SangYun

    2014-09-08

    Creutzfeldt-Jakob disease and Hashimoto's encephalopathy often show similar clinical presentation. Among Creutzfeldt-Jakob disease mimics, Hashimoto's encephalopathy is particularly important as it is treatable with corticosteroids. Thus, in cases of middle-aged woman diagnosed with probable Creutzfeldt-Jakob disease and who exhibit high titers of antithyroid antibodies, corticosteroid pulse therapy is typically performed with expectations of near complete recovery from Hashimoto's encephalopathy. Herein, we provide the first case report that exhibited a negative effect of corticosteroid pulse therapy for a patient with Creutzfeldt-Jakob disease with features of Hashimoto's encephalopathy. We report a case of 59-year-old Asian woman with blurred vision, dysarthria, myoclonus, and rapidly progressive dementia. Cerebrospinal fluid showed 14-3-3 protein positive. Electroencephalogram showed periodic sharp waves (1.5 Hz) at the bilateral frontal or occipital areas. Magnetic resonance imaging showed high signal intensities at the bilateral cerebral cortex, caudate nucleus, and putamen. The patient was diagnosed with probable Creutzfeldt-Jakob disease. However, serum analysis showed a high titer of antithyroid antibodies. We started corticosteroid pulse therapy with subsequent aggravation of seizure activity including generalized myoclonus, epilepsia parialis continua, and ballistic dyskinesia, which was effectively treated with clonazepam. We provide evidence of a case of Creutzfeldt-Jakob disease that exhibited clinical deterioration after corticosteroid therapy. Although histopathological confirmation with brain biopsy is not easily available in Creutzfeldt-Jakob disease patients, selective initiation of corticosteroid pulse therapy should be considered in cases of uncertain diagnosis for differentiation with Hashimoto's encephalopathy.

  2. An experiential learning model applied to nurses working with patients with Creutzfeldt-Jakob disease.

    Science.gov (United States)

    D'Amour, Rolande; Guimond, Pierrette

    2010-01-01

    Creutzfeldt-Jacob disease (C/D) is a rare neurological disease, transmissible, incurable and always fatal affecting humans, as well as animals. In the 1980s, the "mad cow disease" (MCD) epidemic in the United Kingdom popularized prion diseases worldwide. However, this contributed to the proliferation of disinformation, causing confusion between C/D and MCD in the public, as well as in some health care providers. The purpose of this article is to describe the process utilized to develop, implement, and evaluate a workshop on CJD for nurses and other health care providers. Kolb's experiential teaching/learning model was used as a framework for this workshop. A workbook was developed to complement the participants' learning. Fifteen health care providers from the Alzheimer Society of Canada's Dementia Network agreed to participate in this educational project. The results indicated that the participants had limited knowledge about C/D. They felt ill prepared and uncomfortable in providing quality care to this patient population. The workshop generated new insights and knowledge about the disease and the needs of the patients and their families. Participants exchanged ideas for tailored interventions. An experiential teaching/learning model is a highly effective approach to increase knowledge and skills, as well as fostering reflective practice.

  3. Asymmetric neuroimaging in Creutzfeldt-Jakob disease: a ruse.

    Science.gov (United States)

    Bavis, James; Reynolds, Patrick; Tegeler, Charles; Clark, Paige

    2003-10-01

    Creutzfeldt-Jakob disease (CJD) causes diffuse neurological symptoms, but asymmetric lesions have been found on conventional magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI). Less often, position emission tomography (PET) scanning can also reveal asymmetric lesions in patients with CJD. Such imaging may mislead clinicians. The authors present a case of a woman with CJD who was diagnosed as having suffered a stroke because she had asymmetric T2-weighted imaging (T2WI) MRI abnormalities that were interpreted as a stroke. It was noted that the patient had clinical features consistent with CJD, including rapidly progressive dementia, myoclonus, cerebellar dysfunction, and pyramidal and extrapyramidal signs. This diagnosis was supported by periodic epileptiform discharges on the electroencephalogram (EEG) and by elevated 14-3-3 protein in the cerebrospinal fluid. MRI T2WI and DWI showed dramatically asymmetric abnormalities involving the left cortex. A PET study found decreased metabolism in the left cerebral and right cerebellar hemispheres. The patient's clinical, EEG, and laboratory data were all consistent with CJD, not other diseases, but the MRI and PET had atypical, asymmetric findings. This case demonstrates that CJD should be considered in the differential diagnosis of patients with rapidly progressive neurological decline, even if they have asymmetric imaging findings.

  4. Health professions and risk of sporadic Creutzfeldt- Jakob disease, 1965 to 2010

    NARCIS (Netherlands)

    E. Alcalde-Cabero; J. Almazán-Isla; J-P. Brandel (Jean-Philippe); M. Breithaupt; J. Catarino; S.J. Collins (Steven); J. Haybäck; R. Höftberger (Romana); E. Kahana; G.G. Kovacs (Gabor); A. Ladogana (Anna); E. Mitrová (Eva); A. Molesworth; Y. Nakamura; M. Pocchiari (Maurizio); M. Popovic; M. Ruiz-Tovar; A. Taratuto; C. van Duin; M. Yamada; R.G. Will (Robert); I. Zerr (Inga); J. de Pedro-Cuesta (Jesús)

    2012-01-01

    textabstractIn 2009, a pathologist with sporadic Creutzfeldt- Jakob Disease (sCJD) was reported to the Spanish registry. This case prompted a request for information on health-related occupation in sCJD cases from countries participating in the European Creutzfeldt Jakob Disease Surveillance network

  5. Unusual Phenotype of the Brownell-Oppenheimer Variant of Sporadic Creutzfeldt-Jakob Disease

    Directory of Open Access Journals (Sweden)

    Dronacharya Lamichhane

    2016-03-01

    Full Text Available Creutzfeldt-Jakob disease is a rare, transmissible, neurodegenerative disease caused by conformationally changed abnormal prion protein. Most patients present with cognitive impairment, myoclonus, ataxia, visual impairment alone or in combination. Patients who present with ataxia only at the onset are said to have Brownell-Oppenheimer variant of the disease. However, here we present a case where visual symptoms preceded the clinical presentation and hallucinations accompanied the ataxia at the onset of the disease.

  6. "Preclinical" MSA in definite Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Rodriguez-Diehl, Roberta; Rey, Maria Jesus; Gironell, Alexandre; Martinez-Saez, Elena; Ferrer, Isidre; Sánchez-Valle, Raquel; Jagüe, Jordi; Nos, Carlos; Gelpi, Ellen

    2012-04-01

    Multiple system atrophy (MSA) is a sporadic alpha-synucleinopathy clinically characterized by variable degrees of parkinsonism, cerebellar ataxia and autonomic dysfunction. The histopathological hallmark of MSA is glial cytoplasmic inclusion (GCI). It is considered to represent the earliest stage of the degenerative process in MSA and to precede neuronal degeneration. Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal, rapidly progressive dementia generally associated with ataxia, pyramidal and extrapyramidal symptoms and myoclonus. Definite diagnosis needs neuropathological demonstration of variable degrees of spongiform degeneration of neuropil, neuronal loss, astro- and microgliosis, and the presence of abnormal deposits of the misfolded prion protein PrP(res) . Both diseases, CJD and MSA are infrequent among neurodegenerative diseases. In the present report we describe clinical and neuropathological findings of a previously healthy 64-year-old woman who developed symptoms of classical CJD. At post mortem examination, the brain showed in addition to classical methionine/methionine PrP(res) type 1 (MM1) sCJD changes and moderate Alzheimer-type pathology, features of "preclinical" MSA with minimal histopathological changes. These were characterized by discrete amounts of alpha-synuclein immunoreacive glial cytoplasmic inclusions in the striato-nigral system, isolated intraneuronal inclusions in pigmented neurons of the substantia nigra, as well as some vermiform intranuclear inclusions. To our knowledge, this is the first report on the coexistence of definite sCJD and "minimal changes" MSA in the same patient.

  7. Unsuccessful intraventricular pentosan polysulphate treatment of variant Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Whittle, I R; Knight, R S G; Will, R G

    2006-06-01

    Pentosan polysulphate, delivered by chronic intraventricular infusion, has been proposed as a potential therapy for human prion disease. The first treated patient is still alive several years after treatment started. Here we describe in detail a case of variant Creutzfeldt-Jakob disease in which this treatment was started at a relatively early stage but had no definite clinical benefit. The patient died from disease progression 16 months after diagnosis and 5 months after pentosan polysulphate treatment was commenced.

  8. A novel phenotype of sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Giaccone, G; Di Fede, Giuseppe; Mangieri, Michela; Limido, Lucia; Capobianco, Raffaella; Suardi, Silvia; Grisoli, Marina; Binelli, Simona; Fociani, Paolo; Bugiani, Orso; Tagliavini, Fabrizio

    2009-01-01

    An atypical case of sporadic Creutzfeldt-Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus. Western blot analysis showed a profile of the pathological form of PrP (PrP(Sc)) previously unrecognised in sporadic CJD, marked by the absence of diglycosylated protease resistant species. These features define a novel neuropathological and molecular CJD phenotype.

  9. Creutzfeldt-Jakob Disease with Mixed Transcortical Aphasia: Insights into Echolalia

    OpenAIRE

    S. E. McPherson; J. D. Kuratani; Cummings, J L.; J. Shih; Mischel, P. S.; Vinters, H V

    1994-01-01

    Aphasia is a common manifestation of Creutzfeldt-Jakob disease (CJD), and investigation of the linguistic disorders of CJD patients may provide insights into the neurobiological mechanisms of language and aphasia. We report an autopsy-confirmed case of CJD in which the presenting symptom was change in language abilities. The patient ultimately evidenced mixed transcortical aphasia (MTA) with echolalia. Disruption of frontal-subcortical circuits with environmental dependency accounts for the s...

  10. Creutzfeldt-Jakob Disease: Analysis of Four Cases

    Directory of Open Access Journals (Sweden)

    Ali Al Balushi

    2016-08-01

    Full Text Available Background: Creutzfeldt-Jakob disease (CJD is a rare, rapidly progressive neurodegenerative disease that almost always results in death in under a year from onset of symptoms. Here, we report four cases of CJD with different clinical presentations diagnosed at our institution over two-year period. Cases: The first patient is an 82-year-old woman who presented with depression, cognitive decline and word-finding difficulty over 4 weeks. The patient deteriorated neurologically to akinetic mutism and death within 6 weeks of presentation. The second patient is a 54-year-old woman with liver cirrhosis who presented with confusion, ataxia and multiple falls over 4 weeks. She was treated initially for hepatic encephalopathy, but continued to progress to mutism, startle myoclonus and obtundation. Death occurred within 4 weeks of presentation. The third patient is a 58-year-old woman who presented with an 8-week history of confusion, urinary incontinence, Parkinsonism, ataxia and myoclonus. Death occurred within 2 months from presentation. The fourth patient is a 67-year-old man who presented with a 6-week history of headache, blurred vision, ataxia and personality change and progressed to confusion, myoclonus, akinetic mutism and obtundation. Death occurred within 3 weeks from presentation. Conclusion: These 4 cases highlight the varied possible clinical presentations of CJD and demonstrate the importance of considering CJD in patients with atypical presentations of rapidly progressive cognitive decline. To diagnose CJD, brain biopsy remains the gold standard. However, the presence of CSF protein 14-3-3, typical MRI findings and suggestive EEG abnormalities all support the diagnosis.

  11. Efficient transmission and characterization of Creutzfeldt-Jakob disease strains in bank voles.

    Directory of Open Access Journals (Sweden)

    Romolo Nonno

    2006-02-01

    Full Text Available Transmission of prions between species is limited by the "species barrier," which hampers a full characterization of human prion strains in the mouse model. We report that the efficiency of primary transmission of prions from Creutzfeldt-Jakob disease patients to a wild rodent species, the bank vole (Clethrionomys glareolus, is comparable to that reported in transgenic mice carrying human prion protein, in spite of a low prion protein-sequence homology between man and vole. Voles infected with sporadic and genetic Creutzfeldt-Jakob disease isolates show strain-specific patterns of spongiform degeneration and pathological prion protein-deposition, and accumulate protease-resistant prion protein with biochemical properties similar to the human counterpart. Adaptation of genetic Creutzfeldt-Jakob disease isolates to voles shows little or no evidence of a transmission barrier, in contrast to the striking barriers observed during transmission of mouse, hamster, and sheep prions to voles. Our results imply that in voles there is no clear relationship between the degree of homology of the prion protein of the donor and recipient species and susceptibility, consistent with the view that the prion strain gives a major contribution to the species barrier. The vole is therefore a valuable model to study human prion diversity and, being susceptible to a range of animal prions, represents a unique tool for comparing isolates from different species.

  12. Efficient transmission and characterization of creutzfeldt-jakob disease strains in bank voles.

    Directory of Open Access Journals (Sweden)

    2006-02-01

    Full Text Available Transmission of prions between species is limited by the "species barrier," which hampers a full characterization of human prion strains in the mouse model. We report that the efficiency of primary transmission of prions from Creutzfeldt-Jakob disease patients to a wild rodent species, the bank vole (Clethrionomys glareolus, is comparable to that reported in transgenic mice carrying human prion protein, in spite of a low prion protein-sequence homology between man and vole. Voles infected with sporadic and genetic Creutzfeldt-Jakob disease isolates show strain-specific patterns of spongiform degeneration and pathological prion protein-deposition, and accumulate protease-resistant prion protein with biochemical properties similar to the human counterpart. Adaptation of genetic Creutzfeldt-Jakob disease isolates to voles shows little or no evidence of a transmission barrier, in contrast to the striking barriers observed during transmission of mouse, hamster, and sheep prions to voles. Our results imply that in voles there is no clear relationship between the degree of homology of the prion protein of the donor and recipient species and susceptibility, consistent with the view that the prion strain gives a major contribution to the species barrier. The vole is therefore a valuable model to study human prion diversity and, being susceptible to a range of animal prions, represents a unique tool for comparing isolates from different species.

  13. Creutzfeldt-Jakob Disease Fact Sheet for Healthcare Workers and Morticians

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  14. Hashimoto's encephalopathy mimicking Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Gauthier, Angela C; Baehring, Joachim M

    2017-01-01

    Hashimoto's encephalopathy is a rare, imprecisely defined autoimmune neurologic syndrome associated with Hashimoto's thyroiditis that normally responds to corticosteroids. Here, we describe the case of a 55-year-old woman who presented with subacute cognitive decline and ataxia. Neoplastic, paraneoplastic, infectious, and metabolic etiologies were ruled out. Anti-TPO antibody level was markedly elevated at 966U/mL. After one month of 60mg/day of oral prednisone, she felt back to baseline and her Montreal Cognitive Assessment dramatically improved. Physicians should strongly consider this uncommon diagnosis in patients with rapid cognitive decline and no other clear etiology. Copyright © 2016 Elsevier Ltd. All rights reserved.

  15. The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease

    DEFF Research Database (Denmark)

    Bahl, J.M.; Heegaard, N.H.; Falkenhorst, G.

    2009-01-01

    ) together with the prion protein gene genotype to discriminate patients with sCJD (n=21) from neurological controls (n=164) and Alzheimer's disease (AD) patients (n=49). Low p-tau/t-tau ratio was the best single marker for sCJD with 90% specificity against neurological controls at 86% sensitivity whilst NSE......Laboratory markers have a prominent place among the diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Here we investigate the capability of protein 14-3-3, total-tau (t-tau), threonin-181-phosphorylated tau (p-tau), and neuron-specific enolase (NSE) in cerebrospinal fluid (CSF...

  16. A patient with progressive cognitive decline and periodic abnormal waves in EEG: PLEDs of neurosyphilis or PSDs of Creutzfeldt-Jakob disease?

    Science.gov (United States)

    Lv, Yudan; Chu, Fengna; Meng, Hongmei; Wang, Zan; Cui, Li

    2014-07-01

    We report one Chinese patient with neurosyphilis exhibiting periodic lateralized epileptiform discharges (PLEDs) in the electroencephalogram (EEG). The patient (male, 59 years old) manifested with progressive cognitive decline and abnormal behavior. After several days, he gradually lost contact with others, and fell into a coma. EEG revealed periodic abnormal waves, predominantly located in the right anterior frontal region. The serum and cerebrospinal fluid Venereal Disease Research Laboratory test and Treponema pallidum hemagglutination assay were positive. Magnetic resonance imaging (MRI) of brain showed focal atrophy in the right frontal and temporal region. Diffusion-weighted MRI showed "lace sign" in cortex, which could be seen as an early and special feature in Creutzfeldt-Jakob disease (CJD). To differentiate "PLEDs of neurosyphilis on EEG" from "periodic synchronous discharges (PSD) of CJD on EEG," we treated this patient with diazepam 20 mg intravenously. After 10 minutes, periodic abnormal waves on EEG disappeared, with improved mental status, which confirmed the diagnosis of PLEDs of neurosyphilis. Then, after the treatment with penicillin, the patient improved and returned to work.

  17. CSF concentrations of cAMP and cGMP are lower in patients with Creutzfeldt-Jakob disease but not Parkinson's disease and amyotrophic lateral sclerosis.

    Directory of Open Access Journals (Sweden)

    Patrick Oeckl

    Full Text Available BACKGROUND: The cyclic nucleotides cyclic adenosine-3',5'-monophosphate (cAMP and cyclic guanosine-3',5'-monophosphate (cGMP are important second messengers and are potential biomarkers for Parkinson's disease (PD, amyotrophic lateral sclerosis (ALS and Creutzfeldt-Jakob disease (CJD. METHODOLOGY/PRINCIPAL FINDINGS: Here, we investigated by liquid chromatography/tandem mass spectrometry (LC-MS/MS the cerebrospinal fluid (CSF concentrations of cAMP and cGMP of 82 patients and evaluated their diagnostic potency as biomarkers. For comparison with a well-accepted biomarker, we measured tau concentrations in CSF of CJD and control patients. CJD patients (n = 15 had lower cAMP (-70% and cGMP (-55% concentrations in CSF compared with controls (n = 11. There was no difference in PD, PD dementia (PDD and ALS cases. Receiver operating characteristic (ROC curve analyses confirmed cAMP and cGMP as valuable diagnostic markers for CJD indicated by the area under the curve (AUC of 0.86 (cAMP and 0.85 (cGMP. We calculated a sensitivity of 100% and specificity of 64% for cAMP and a sensitivity of 67% and specificity of 100% for cGMP. The combination of both nucleotides increased the sensitivity to 80% and specificity to 91% for the term cAMPxcGMP (AUC 0.92 and to 93% and 100% for the ratio tau/cAMP (AUC 0.99. CONCLUSIONS/SIGNIFICANCE: We conclude that the CSF determination of cAMP and cGMP may easily be included in the diagnosis of CJD and could be helpful in monitoring disease progression as well as in therapy control.

  18. Cerebrospinal Fluid Markers in Sporadic Creutzfeldt-Jakob Disease

    Directory of Open Access Journals (Sweden)

    Andrea Galassi

    2011-09-01

    Full Text Available Sporadic Creutzfeldt-Jakob disease (sCJD is the commonest form of human prion diseases, accounting for about 85% of all cases. Current criteria for intra vitam diagnosis include a distinct phenotype, periodic sharp and slow-wave complexes at electroencephalography (EEG, and a positive 14-3-3-protein assay in the cerebrospinal fluid (CSF. In sCJD, the disease phenotype may vary, depending upon the genotype at codon 129 of the prion protein gene (PRNP, a site of a common methionine/valine polymorphism, and two distinct conformers of the pathological prion protein. Based on the combination of these molecular determinants, six different sCJD subtypes are recognized, each with distinctive clinical and pathologic phenotypes. We analyzed CSF samples from 127 subjects with definite sCJD to assess the diagnostic value of 14-3-3 protein, total tau protein, phosphorylated181 tau, and amyloid beta (Aβ peptide 1-42, either alone or in combination. While the 14-3-3 assay and tau protein levels were the most sensitive indicators of sCJD, the highest sensitivity, specificity and positive predictive value were obtained when all the above markers were combined. The latter approach also allowed a reliable differential diagnosis with other neurodegenerative dementias.

  19. Sporadic Creutzfeldt-Jakob Disease With Unilateral Symptoms in the Setting of Metastatic Renal Cell Carcinoma.

    Science.gov (United States)

    Rossi, Kyle C; Stahl, Christine M; Zhang, Pengfei; Liang, John W; Marcuse, Lara V; Lublin, Fred

    2017-07-01

    Although it is not rare for magnetic resonance imaging findings in Creutzfeldt-Jakob disease to be asymmetric, unilateral clinical syndromes are uncommonly reported and may confound diagnosis. In addition, neurological paraneoplastic syndromes are not common in renal cell carcinoma, though there are cases reported, often without an offending antibody isolated. A 66-year-old man was admitted with 1 month of left-sided numbness and "loss of control" of the left arm. Examination revealed action-induced irregular jerking movements of the left arm. Mental status testing was normal. Magnetic resonance imaging brain revealed patchy areas of restricted diffusion along the cerebral cortices. Screening computed tomographic scans revealed innumerable lung nodules compatible with metastases, as well as a renal mass consistent with renal cell carcinoma. Lumbar puncture was performed and cerebrospinal fluid was sent for paraneoplastic autoantibody evaluation and protein 14-3-3. Over the next week the patient developed dystonic posturing of the left arm, left leg jerking movements, a right arm action tremor, and cognitive impairment. Paraneoplastic autoantibodies were negative. Protein 14-3-3 was elevated and brain biopsy revealed spongiform encephalopathy with positive immunoblotting. The patient died about 2 months from symptom onset. Creutzfeldt-Jakob disease can present with entirely unilateral myoclonus and numbness, without specific complaints of cognitive impairment. Not every difficult or unclear neurological syndrome in a patient with metastatic cancer is a paraneoplastic syndrome.

  20. The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer's disease

    DEFF Research Database (Denmark)

    Bahl, Justyna Maria Czarna; Heegaard, Niels Henrik Helweg; Falkenhorst, Gerhard;

    2009-01-01

    Laboratory markers have a prominent place among the diagnostic criteria for sporadic Creutzfeldt-Jakob disease (sCJD). Here we investigate the capability of protein 14-3-3, total-tau (t-tau), threonin-181-phosphorylated tau (p-tau), and neuron-specific enolase (NSE) in cerebrospinal fluid (CSF......) together with the prion protein gene genotype to discriminate patients with sCJD (n=21) from neurological controls (n=164) and Alzheimer's disease (AD) patients (n=49). Low p-tau/t-tau ratio was the best single marker for sCJD with 90% specificity against neurological controls at 86% sensitivity whilst NSE...... with the presence of 14-3-3 protein in CSF gave the best test specificity of 96% at 84% sensitivity. We conclude that the combination of more than one CSF marker for neurodegeneration can improve the diagnostic test accuracy for sCJD against neurological controls including patients with other dementias....

  1. A case cluster of variant Creutzfeldt-Jakob disease linked to the Kingdom of Saudi Arabia.

    Science.gov (United States)

    Coulthart, Michael B; Geschwind, Michael D; Qureshi, Shireen; Phielipp, Nicolas; Demarsh, Alex; Abrams, Joseph Y; Belay, Ermias; Gambetti, Pierluigi; Jansen, Gerard H; Lang, Anthony E; Schonberger, Lawrence B

    2016-10-01

    As of mid-2016, 231 cases of variant Creutzfeldt-Jakob disease-the human form of a prion disease of cattle, bovine spongiform encephalopathy-have been reported from 12 countries. With few exceptions, the affected individuals had histories of extended residence in the UK or other Western European countries during the period (1980-96) of maximum global risk for human exposure to bovine spongiform encephalopathy. However, the possibility remains that other geographic foci of human infection exist, identification of which may help to foreshadow the future of the epidemic. We report results of a quantitative analysis of country-specific relative risks of infection for three individuals diagnosed with variant Creutzfeldt-Jakob disease in the USA and Canada. All were born and raised in Saudi Arabia, but had histories of residence and travel in other countries. To calculate country-specific relative probabilities of infection, we aligned each patient's life history with published estimates of probability distributions of incubation period and age at infection parameters from a UK cohort of 171 variant Creutzfeldt-Jakob disease cases. The distributions were then partitioned into probability density fractions according to time intervals of the patient's residence and travel history, and the density fractions were combined by country. This calculation was performed for incubation period alone, age at infection alone, and jointly for incubation and age at infection. Country-specific fractions were normalized either to the total density between the individual's dates of birth and symptom onset ('lifetime'), or to that between 1980 and 1996, for a total of six combinations of parameter and interval. The country-specific relative probability of infection for Saudi Arabia clearly ranked highest under each of the six combinations of parameter × interval for Patients 1 and 2, with values ranging from 0.572 to 0.998, respectively, for Patient 2 (age at infection × lifetime) and

  2. Differentiation of prions from L-type BSE versus sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Nicot, Simon; Bencsik, Anna; Morignat, Eric; Mestre-Francés, Nadine; Perret-Liaudet, Armand; Baron, Thierry

    2012-12-01

    We compared transmission characteristics for prions from L-type bovine spongiform encephalopathy and MM2-cortical sporadic Creutzfeldt-Jakob disease in the Syrian golden hamster and an ovine prion protein-transgenic mouse line and isolated distinct prion strains. Our findings suggest the absence of a causal relationship between these diseases, but further investigation is warranted.

  3. Detection of type 1 prion protein in variant Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    Yull, H.M.; Ritchie, D.L.; Langeveld, J.P.M.; Zijderveld, van F.G.; Bruce, M.E.; Ironside, J.W.; Head, M.W.

    2006-01-01

    Molecular typing of the abnormal form of the prion protein (PrPSc) has come to be regarded as a powerful tool in the investigation of the prion diseases. All evidence thus far presented indicates a single PrPSc molecular type in variant Creutzfeldt-Jakob disease (termed type 2B), presumably resultin

  4. Influence of timing on CSF tests value for Creutzfeldt-Jakob disease diagnosis

    NARCIS (Netherlands)

    P. Sanchez-Juan (Pascual); R. Sánchez-Valle (Raquel); A. Green (Alison); A. Ladogana (Anna); N. Cuadrado-Corrales (Natividad); E. Mitrová (Eva); K. Stoeck (Katharina); T. Sklaviadis (Theodoros); J. Kulczycki (Jerzy); K. Hess; A. Krasnianski (Anna); M. Equestre; D. Slivarichová; A. Saiz (Albert Abe); M. Calero (Miguel); M. Pocchiari (Maurizio); R.S.G. Knight (Richard); P. Tikka-Kleemola (Päivi); I. Zerr (Inga)

    2007-01-01

    textabstractBackground: The analysis of markers in the cerebrospinal fluid (CSF) is useful in the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD). However, the time at which the study of these markers is most sensitive remains controversal. Objective: To assess the influence of time of sampli

  5. Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease

    Energy Technology Data Exchange (ETDEWEB)

    Pandya, H.G.; Coley, S.C.; Wilkinson, I.D.; Griffiths, P.D

    2003-02-01

    AIM: To study the proton MR spectroscopic findings in Creutzfeldt-Jakob disease (CJD) (sporadic and variant). MATERIALS AND METHODS: MR imaging and proton MR spectra were acquired in two patients with sporadic CJD (biopsy proven) and one patient with variant CJD. RESULTS: The two patients with sporadic CJD demonstrated MR signal change within the basal ganglia and thalami and reduced N-acetylaspartate (NAA):creatine ratios. The patient with variant CJD showed characteristic signal change within the pulvinar of the thalami and a markedly reduced N-acetylaspartate:creatine ratio. CONCLUSION: All three patients with CJD demonstrated evidence of reduced N-acetylaspartate: creatine ratios on MR spectroscopy. These changes imply that neuronal loss and/or dysfunction is a consistent finding in established CJD. Pandya H. G., et al (2003) Clinical Radiology58, 148--153.

  6. MRI of Creutzfeldt-Jakob disease: Imaging features and recommended MRI protocol

    Energy Technology Data Exchange (ETDEWEB)

    Collie, D.A.; Sellar, R.J.; Zeidler, M.; Colchester, A.C.F.; Knight, R.; Will, R.G

    2001-09-01

    Creutzfeldt-Jakob Disease (CJD) is a rare, progressive and invariably fatal neurodegenerative disease characterized by specific histopathological features. Of the four subtypes of CJD described, the commonest is sporadic CJD (sCJD). More recently, a new clinically distinct form of the disease affecting younger patients, known as variant CJD (vCJD), has been identified, and this has been causally linked to the bovine spongiform encephalopathy (BSE) agent in cattle. Characteristic appearances on magnetic resonance imaging (MRI) have been identified in several forms of CJD; sCJD may be associated with high signal changes in the putamen and caudate head and vCJD is usually associated with hyperintensity of the pulvinar (posterior nuclei) of the thalamus. These appearances and other imaging features are described in this article. Using appropriate clinical and radiological criteria and tailored imaging protocols, MRI plays an important part in the in vivodiagnosis of this disease. Collie, D.A. et al. (2001)

  7. Creutzfeldt-Jakob Disease with Mixed Transcortical Aphasia: Insights into Echolalia

    Directory of Open Access Journals (Sweden)

    S. E. McPherson

    1994-01-01

    Full Text Available Aphasia is a common manifestation of Creutzfeldt-Jakob disease (CJD, and investigation of the linguistic disorders of CJD patients may provide insights into the neurobiological mechanisms of language and aphasia. We report an autopsy-confirmed case of CJD in which the presenting symptom was change in language abilities. The patient ultimately evidenced mixed transcortical aphasia (MTA with echolalia. Disruption of frontal-subcortical circuits with environmental dependency accounts for the symptoms in MTA, including intact repetition and echolalia. Observation in this patient and a review of the literature suggest that frontal-subcortical circuit dysfunction may contribute to the syndrome of echolalia. This hypothesis offers an alternative explanation to “isolation” of the speech area as the cause of MTA.

  8. Creutzfeldt-Jakob disease with mixed transcortical aphasia: insights into echolalia.

    Science.gov (United States)

    McPherson, S E; Kuratani, J D; Cummings, J L; Shih, J; Mischel, P S; Vinters, H V

    1994-01-01

    Aphasia is a common manifestation of Creutzfeldt-Jakob disease (CJD), and investigation of the linguistic disorders of CJD patients may provide insights into the neurobiological mechanisms of language and aphasia. We report an autopsy-confirmed case of CJD in which the presenting symptom was change in language abilities. The patient ultimately evidenced mixed transcortical aphasia (MTA) with echolalia. Disruption of frontal-subcortical circuits with environmental dependency accounts for the symptoms in MTA, including intact repetition and echolalia. Observation in this patient and a review of the literature suggest that frontal-subcortical circuit dysfunction may contribute to the syndrome of echolalia. This hypothesis offers an alternative explanation to "isolation" of the speech area as the cause of MTA.

  9. Iatrogenic Creutzfeldt-Jakob disease following human growth hormone therapy: case report

    Directory of Open Access Journals (Sweden)

    Caboclo Luís Otávio Sales Ferreira

    2002-01-01

    Full Text Available We report the case of a 41-year-old man with iatrogenic Creutzfeldt-Jakob disease (CJD acquired after the use of growth hormone (GH obtained from a number of pituitary glands sourced from autopsy material. The incubation period of the disease (from the midpoint of treatment to the onset of clinical symptoms was rather long (28 years. Besides the remarkable cerebellar and mental signs, the patient exhibited sleep disturbance (excessive somnolence from the onset of the symptoms, with striking alteration of the sleep architecture documented by polysomnography. 14-3-3 protein was detected in the CSF, and MRI revealed increased signal intensity bilaterally in the striatum, being most evident in diffusion-weighted (DW-MRI sequences. This is the second case of iatrogenic CJD associated with the use of GH reported in Brazil.

  10. Atypical Creutzfeldt-Jakob Disease Evolution after Electroconvulsive Therapy for Catatonic Depression

    Directory of Open Access Journals (Sweden)

    Iria Grande

    2011-01-01

    Full Text Available We describe a case report of an 80-year-old woman who presented with symptomatology compatible with an episode of major depression with catatonia. After psychiatric admission, electroconvulsive therapy (ECT was applied, but symptoms progressed with cognitive impairment, bradykinesia, widespread stiffness, postural tremor, and gait disturbance. After compatible magnetic resonance imaging (MRI, diffusion changes, and electroencephalogram (EEG findings the case was reoriented to Creutzfeldt-Jakob disease (CJD. The genetic study found a methionine/valine heterozygosity at codon 129 of the prion protein gene PrPSc. On followup, a significant clinical recovery turned out. For this reason, EEG and MRI were repeated and confirmed the findings. The patient subsequently demonstrated progressive clinical deterioration and died 21 months later. The diagnosis was verified postmortem by neuropathology. The vCJD subtype MV2 is indeed characterized by early and prominent psychiatric symptoms and a prolonged disease duration however no frank clinical recovery has before been reported.

  11. Creutzfeldt-Jakob disease in Ireland: epidemiological aspects 1980-2002.

    LENUS (Irish Health Repository)

    Horan, Gail

    2012-02-03

    Surveillance for Creutzfeldt-Jakob disease (CJD) has been carried out in the Republic of Ireland since 1980. Initial surveillance was passive and based on consented autopsy confirmation of CJD in patients in whom there was a high index of clinical suspicion. Since 1999, an active surveillance programme involving formal notification of all suspect CJD cases has been in place. The annual mortality rate has increased from 0.34 cases\\/million in 1980 to 1.27 cases\\/million in 2001. In all, 29 cases have been pathologically confirmed: 1 had variant CJD (vCJD), 1 had iatrogenic human growth hormone-induced CJD and 1 had fatal insomnia. Sporadic CJD (sCJD) accounted for the remainder. This paper details the change in incidence over 22 years as the surveillance programme in Ireland got under way; the increased incidence is attributed to better case ascertainment, as has occurred in other countries where active surveillance programmes have been established.

  12. Creutzfeldt-Jakob病43例患者的临床分析%The clinical features of 43 patients with Creutzfeldt-Jakob disease

    Institute of Scientific and Technical Information of China (English)

    刘静; 王玉平; 王红星; 李莉萍; 刘爱华; 叶静; 杨延辉

    2016-01-01

    Objective To analyze the clinical features of 43 patients with clinically possible or probable Creutzfeldt-Jakob disease (CJD) to provide references for the early clinical evaluation and diagnosis of CJD. Method All patients who were diagnosed with “suspected CJD” and hospitalized in our hospital between January 2013 to January 2016 were collected, and their clinical features and laboratory data were analyzed retrospectively. Results In general, the onset of CJD occurred at about 60 years old, with a mean course of disease of 5.70±5.08 months(median:four months). The first symptoms are changeable, mainly presenting with rapidly progressive dementia. In addition, typical clinical manifestations included 6 types: rapidly progressivedementia, damage in the locomotor system(fibrae pyramidales, extrapyramidal and cerebellar symptoms), myoclonus, akinetic mutism, sleep and vision disorders.Conclusion The early diagnosis of CJD should pay attention to its clinical features, and highly alarming and periodic review should be given to the patient with 2 typical features or above manifestations to avoid misdiagnosis, although 14-3-3 protein, EEG and MRI show atypical findings.%目的:分析43例临床可能或很可能克雅氏病(CJD)患者的临床特征,为CJD早期诊断提供一些参考。方法搜集2013年1月至2016年1月以“可疑CJD”诊断在首都医科大学宣武医院住院的患者,对其临床特点及实验室资料进行分析。结果 CJD通常在60岁左右发病,平均病程5.70±5.08个月;首发症状多变,以迅速进展性痴呆为主。典型临床表现有6种:迅速进展的痴呆、运动系统损害(锥体束、锥体外系及小脑症状)、肌阵挛、无动性缄默、睡眠障碍和视力障碍。结论 CJD的早期诊断应重视其临床特征,当一个患者具有典型特征中的两项或以上表现时,即使14-3-3蛋白、脑电图(EEG)、磁共振(MRI)均不典型,也要高度警惕CJD

  13. Creutzfeldt-Jakob disease versus anti-LGI1 limbic encephalitis in a patient with progressive cognitive dysfunction, psychiatric symptoms, involuntary facio-brachio-crural movement, and an abnormal electroencephalogram: a case report

    Directory of Open Access Journals (Sweden)

    Sun L

    2015-06-01

    Full Text Available Li Sun, Jie Cao, Chang Liu, Yudan LvDepartment of Neurology, The First Hospital of JiLin University, ChangChun, People’s Republic of ChinaAbstract: Diagnosis of Creutzfeldt-Jakob disease (CJD is often challenging in elderly individuals, not only because of its variable clinical features but also because of nonspecific changes on the electroencephalogram (EEG in the early stages of the disease. Here we report on a patient who presented with progressive cognitive dysfunction, psychiatric symptoms, involuntary facio-brachio-crural movement, and an abnormal EEG. We provide a detailed analysis and differential diagnosis between anti-leucine-rich glioma inactivated 1 (LGI1 limbic encephalitis versus CJD, in the hope of providing a new understanding of CJD. A 65-year-old Chinese man presented with slowly progressive cognitive decline with psychiatric symptoms. On admission, he presented with facial grimacing and brief left upper limb dystonic posturing lasting 1–2 seconds, with hyponatremia that was difficult to rectify. Neurological examination showed increased muscle tension in the left limb but without pathological reflexes. His early EEG showed focal periodic wave complexes. Diffusion-weighted magnetic resonance imaging showed a suspected “lace sign” in the occipital cortex. His cerebrospinal fluid was negative for LGI1 antibodies and positive for 14-3-3 brain protein. Therefore, we made a presumptive diagnosis of CJD. At the following visit, a second EEG showed paroxysmal sharp wave complexes, but the patient had a poor prognosis. Atypical facio-brachio-crural movement and nonspecific EEG changes may occasionally be found in patients with CJD or anti-LGI1 encephalitis. Clinicians should not be dissuaded from a diagnosis of CJD where the EEG does not show paroxysmal sharp wave complexes in the early stages but abnormal facio-brachio-crural movement is present.Keywords: abnormal facio-brachio-crural movement, hyponatremia, Creutzfeldt-Jakob

  14. Preliminary risk analysis applied to the transmission of Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Bertrand, E; Schlatter, J

    2011-01-01

    Transmissible spongiform encephalopathy (TSE) is a degenerative disease of the central nervous system. As yet, there is no human screening test and no effective treatment. This disease is invariably fatal. General preventive measures are therefore essential. The objective of this study is to analyze and address on a prioritized basis the risks relating to the transmission of Creutzfeldt-Jakob disease during surgical operations by means of a preliminary risk analysis (PRA). The PRA produces 63 scenarios with maximum risk relating to operational and legal dangers. The study recommends a number of courses of action, such as training and internal controls, in order to reduce the risks identified. A procedure has been drawn up and assessed for each action. This PRA makes it possible to target and significantly reduce the potential dangers for transmission of Creutzfeldt-Jakob disease through the use of medical instruments.

  15. Involvement of the endosomal-lysosomal system correlates with regional pathology in Creutzfeldt-Jakob disease

    DEFF Research Database (Denmark)

    Kovács, Gábor G; Gelpi, Ellen; Ströbel, Thomas

    2007-01-01

    The endosomal-lysosomal system (ELS) has been suggested to play a role in the pathogenesis of prion diseases. The purpose of this study was to examine how experimental observations can be translated to human neuropathology and whether alterations of the ELS relate to neuropathologic changes....... Combined with stereologic techniques, we examined components of the ELS in human sporadic Creutzfeldt-Jakob disease brains. We immunostained for the early endosomal marker Rab5 and lysosomal enzymes cathepsin D and B. We determined neuron-specific changes in their expression and correlated......-immunoreactive lysosomes. The intraneuronal distribution of cathepsin D and B diverges between Purkinje cells and frontal cortical neurons in sporadic Creutzfeldt-Jakob disease brains. We demonstrated focal intra- and perineuronal colocalization of cathepsin D and PrP. Our results indicate that effects in the ELS...

  16. A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis?

    OpenAIRE

    Tan, Bowei; Morales Mangual, Carlos; Mahmud, Iftekhar; Tongo, Nosakhare D; Mararenko, Larisa; Kay, Arthur

    2017-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this disease and varied initial symptoms make the early diagnosis fairly challenging. Here, we present?a case initially admitted for confusion and bizarre behaviors. She had acute deterioration of mental status, akinetic mutism, and myoclonus jerks four weeks later. Cerebrospinal fluid (CSF) analysis was positive for protein 14-3-3....

  17. Atypical presentation of Creutzfeldt-Jakob disease: a rare but important cause of rapidly progressive dementia.

    Science.gov (United States)

    Taillefer, Marguerite S; Tangarorang, Glendo L; Kuchel, George A; Menkes, Daniel L

    2011-09-01

    We report an atypical presentation of sporadic Creutzfeldt-Jakob disease (CJD) in a 74-year-old woman that illustrates the difficulty in diagnosing this rare, but important, cause of rapidly progressive dementia. Despite well-established criteria, this diagnosis is often missed or substantially delayed (Table 1). In this case, a precipitous cognitive decline associated with a urinary tract infection initiallysuggested delirium. Although atypical CJD was considered as a cause when symptoms persisted, a definitive diagnosis was established postmortem when the cerebrospinal fluid (CSF) prion protein 14-3-3 tested positive. Creutzfeldt-Jakob disease must be considered in the differential diagnosis of rapidly progressive dementia as Connecticut accounts for approximately three of the more than 200 cases diagnosed nationally.

  18. Brain Dopamine Transporter Binding and Glucose Metabolism in Progressive Supranuclear Palsy-Like Creutzfeldt-Jakob Disease

    Directory of Open Access Journals (Sweden)

    Eero Rissanen

    2014-01-01

    Full Text Available Here, we present a patient with Creutzfeldt-Jakob disease (CJD who developed initial symptoms mimicking progressive supranuclear palsy (PSP. Before the development of typical CJD symptoms, functional imaging supported a diagnosis of PSP when [123I]-FP-CIT-SPECT showed a defect in striatal dopamine transporter binding, while [18F]-fluorodeoxyglucose PET showed cortical hypometabolism suggestive of Lewy body dementia. However, the postmortem neuropathological examination was indicative of CJD only, without tau protein or Lewy body findings. This case demonstrates that CJD should be taken into account in rapidly progressing atypical cases of parkinsonism, even when functional imaging supports a diagnosis of a movement disorder.

  19. A case of Creutzfeldt-Jakob disease: diagnostic dilemmas of a rapidly fatal disease

    Directory of Open Access Journals (Sweden)

    Mirza M. Baig

    2013-10-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a rapidly progressive and ultimately fatal disorder of the central nervous system. It occurs worldwide with an incidence of 0.5-1 new case per million population per year. No specific treatment is available and management is limited to supportive care. Autopsy or biopsy provides a definitive diagnosis. Because of the transmissible nature of the disease and hesitancy of patients/family members to give consent for biopsy, numerous challenges in confirming the clinical diagnosis are faced by healthcare professionals. We report a case of 66-year-old male who was hospitalized due to hip fracture following a fall. Acute mental status changes followed the surgical fixation of hip fracture which triggered neurologic work up. This finally revealed suspicion and confirmation of CJD. Patient had progressive cognitive decline with akinetic mutism during further hospital stay and was later discharged home with hospice. Shorter thereafter he died at home. This case demonstrates the importance of keeping an open mind towards possibility of CJD when faced with esoteric neurologic presentations. Also this case provides insight into challenges in quarantine and sterilization of surgical instruments when these patients go through major surgeries.

  20. Creutzfeldt-Jakob disease masked by head trauma and features of Wilson's disease.

    Science.gov (United States)

    Scontrini, Alessandra; Di Bonaventura, Carlo; Fiorelli, Marco; Tiple, Dorina; Colaizzo, Elisa; Ladogana, Anna; Parchi, Piero; Pocchiari, Maurizio

    2015-04-01

    Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder typically characterized by progressive dementia associated with myoclonus, cerebellar and other focal neurological signs. Electroencephalogram, brain MRI and cerebrospinal fluid (CSF) analyses are helpful diagnostic tools, but diagnosis in patients with atypical presenting neurological signs is often difficult to make. A 55-year-old woman developed disorientation, drowsiness and focal motor signs after a traumatic brain injury due to an accidental fall. In two weeks, her symptoms worsened in spite of a brain MRI showed an improvement of traumatic lesions, but the presence of bilateral hyperintensity in the basal nuclei was suggestive of a metabolic or prion encephalopathy. The high 24-h urinary copper level and reduction of ceruloplasmin initially supported the diagnosis of Wilson's disease, but the absence of Kayser-Fleischer rings, and the positivity of 14-3-3 protein test and elevated tau concentrations in the CSF oriented toward a diagnosis of CJD. She died 5 months after the onset, and the postmortem examination of the brain revealed immunochemical features of CJD. This case exemplifies the difficulty of a timely diagnosis when rapid progressive dementia is masked by concomitant factors (i.e., head trauma) and neurological signs are associated with unclear laboratory findings.

  1. "Creutzfeldt-Jakob disease associated with non sterile phlebotomy (case report "

    Directory of Open Access Journals (Sweden)

    Ghorbani A

    2007-07-01

    Full Text Available Background: Creutzfeldt-Jakob disease (C-JD is a rare disorder characterized with rapidly progressive mental decline, myoclonic jerk and finally death. The transmissible pathogen for this disease is a proteinaceous infectious particle termed prion. The prion protein is encoded by a gene (designated as PRNP on the short arm chromosome 20.This disorder is diagnosed based on clinical findings, course of disease, EEG, MRI and confirmed with brain biopsy. Case report: A 56- year- old woman presented with confusion, disorientation, hyper somnolence, psychiatric problems such as hallucination, progressive mental deterioration and myoclonic jerks. She had history of several times phlebotomy with traditional and non sterile methods in two past years. She had no past history of other disease. Her illness was diagnosed based on clinical findings, course of her illness, typical MRI, EEG and rule out other dementing disease. She died after one month. Conclusion: in any patients with psychiatric disorders, rapidly progressive mental deterioration and myoclonic jerks C-JD should be considered as an important diagnosis. Treatable dementing disease should be considered and ruled out at first. The significance of phlebotomy in C-JD has yet to be determined.

  2. Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis.

    Science.gov (United States)

    Wang, Xingbang; Li, Na; Liu, Aifen; Ma, Lin; Shan, Peiyan; Jiang, Wenjing; Zhang, Qun

    2017-09-01

    The present study described the characteristics of three cases of Creutzfeldt-Jakob disease (CJD) in China and analyzed their clinical presentations. The clinical information of the three cases was collected and analyzed. Blood and cerebrospinal fluid (CSF) specimens of the patients were collected for detection of the prion protein (PRNP) gene and 14-3-3 protein levels. Dynamic changes of electroencephalograms (EEGs) and brain magnetic resonance images (MRIs) were also observed. All the three cases were sporadic CJD cases. They presented with symptoms including hyposthenia, progressive memory loss, truncal and limb ataxia, dysarthria, lowered vision acuity, bucking, language disorders, myoclonia and akinetic mutism state. One of the three cases was associated with a prolonged duration of >6 years. The EEG of two cases showed slow biphasic waves. The diffusion-weighted MRI sequence revealed abnormal hyperintensity and bilateral ribboning in the cortex. Two patients tested positive for the 14-3-3 protein in the CSF. All patients were of methionine homozygosity at codon 129 in the gene encoding PRNP protein and one patient had a mutation. The CJD cases showed differences in terms of symptoms and disease duration. Subacute onset was common and with attentive nursing and supportive treatments, one of the patients had a prolonged survival time of >6 years.

  3. Creutzfeldt-Jakob disease. Report of 10 neuropathologically-verified cases in Argentina.

    Science.gov (United States)

    Taratuto, A L; Piccardo, P; Leiguarda, R; Granillo, R; Monti, A; Scarlatti, A; Leits, A; Morasso, C; Marquez Vigo, C; Vila, J

    1989-01-01

    We describe 10 neuropathologically verified patients with Creutzfeldt-Jakob disease who died in Argentina between 1980 and 1987. Two of the ten cases were Chilean by birth. Another case visited Chile several times. Two cases (one Argentinian and one Chilean) regularly consumed sheep brain. Ages ranged from 42 to 63 years and the male to female ratio was 7:3. Disease duration ranged from 3.5 to 24 months. Prodromal symptoms presented as behavioral changes in 5 patients, lasting from one year to several weeks, and as neurological impairment in the other 5. Patients developed pyramidal, extrapyramidal and cerebellar disturbances, as well as movement disorders and progressive dementia. Visual alterations were found in 5 cases and periodic EEG activity in 7. Unequivocal cortical spongiform changes, together with varying degrees of neuronal depletion and astroglial hyperplasia were constant findings. No white matter involvement was apparent either from CT brain scans or on histopathological study of biopsied and autopsied material. Increasing awareness of this disease as well as possibilities of transmission is necessary in order to provide better information on its true incidence in Argentina.

  4. Neuronal phosphorylated RNA-dependent protein kinase in Creutzfeldt-Jakob disease.

    LENUS (Irish Health Repository)

    Paquet, Claire

    2009-02-01

    The mechanisms of neuronal apoptosis in Creutzfeldt-Jakob disease (CJD) and their relationship to accumulated prion protein (PrP) are unclear. A recent cell culture study showed that intracytoplasmic PrP may induce phosphorylated RNA-dependent protein kinase (PKR(p))-mediated cell stress. The double-stranded RNA protein kinase PKR is a proapoptotic and stress kinase that accumulates in degenerating neurons in Alzheimer disease. To determine whether neuronal apoptosis in human CJD is associated with activation of the PKR(p) signaling pathway, we assessed in situ end labeling and immunocytochemistry for PrP, glial fibrillary acidic protein, CD68, activated caspase 3, and phosphorylated PKR (Thr451) in samples of frontal, occipital, and temporal cortex, striatum, and cerebellum from 6 patients with sporadic CJD and 5 controls. Neuronal immunostaining for activated PKR was found in all CJD cases. The most staining was in nuclei and, in contrast to findings in Alzheimer disease, cytoplasmic labeling was not detected. Both the number and distribution of PKR(p)-positive neurons correlated closely with the extent of neuronal apoptosis, spongiosis, astrocytosis, and microglial activation and with the phenotype and disease severity. There was no correlation with the type, topography, or amount of extracellular PrP deposits. These findings suggest that neuronal apoptosis in human CJD may result from PKR(p)-mediated cell stress and are consistent with recent studies supporting a pathogenic role for intracellular or transmembrane PrP.

  5. Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Kovacs, Gabor G; Sanchez-Juan, Pascual; Ströbel, Thomas; Schuur, Maaike; Poleggi, Anna; Nocentini, Sara; Giannattasio, Claudia; Belay, Girma; Bishop, Matthew; Capellari, Sabina; Parchi, Piero; Gelpi, Ellen; Gal, Aniko; Bakos, Agnes; Molnar, Maria J; Heinemann, Uta; Zerr, Inga; Knight, Richard S G; Mitrova, Eva; van Duijn, Cornelia; Budka, Herbert

    2010-01-01

    Accumulation of cathepsin D immunoreactive lysosomes correlates with tissue pathology in sporadic Creutzfeldt-Jakob disease (CJD) brains. The C-to-T transition within exon 2 of the cathepsin D (CTSD) gene is associated with altered enzymatic activity. Possession of the TT genotype is a risk factor for variant CJD. To verify the association between the CTSD position 224T allele and the risk for and survival in sporadic and genetic CJD, we genotyped 540 sporadic, 101 genetic CJD, and 723 control individuals. Genotype data and duration of illness were compared using multiple logistic regression and Kruskal-Wallis test. Multivariate survival analysis was performed using Cox's regression model. The distribution of CTSD position 224 alleles was approximately the same in all groups. We observed a trend for shorter survival in sporadic CJD patients harboring the T allele at position 224 of the CTSD gene in particular in sporadic CJD patients with the prion protein gene position 129 MM genotype. We conclude that the CTSD position 224 polymorphism alone is not a significant risk or disease-modifying factor in sporadic or genetic CJD.

  6. Catatonia as Presentation of Creutzfeldt-Jakob Disease: a Case Report

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    Inês Silva Fernandes

    2017-03-01

    Full Text Available Background: Catatonia is a neuropsychiatric syndrome, classically related to schizophrenia,  but  more  often  associated  with other psychiatric, neurological and/or metabolic causes. Case Report: A 61-year-old man was admitted  in  the  Psychiatric  Department  with catatonia of unknown etiology. He was submitted to a detailed investigation including electroencephalogram that revealed triphasic periodic activity and cranial magnetic resonance imaging that revealed brain cortical and subcortical atrophy of frontal and medial  temporal  predominance.  The  patient was  then  transferred  to  the  Neurology  Department.  An increase  of  14.3.3  protein  in the cerebrospinal fluid, was detected and a presumptive diagnosis of spongiform encephalopathy was made. The clinical picture worsened with plurisegmental myoclonus, episodes of ocular deviation and dystonia. The patient died after 5 weeks. Anatomopathological examination confirmed the diagnosis of sporadic Creutzfeldt-Jakob disease. Conclusions: This case report reflects the difficulty in the differential diagnosis of diseases with neuropsychiatric symptoms, particularly of catatonia, and the importance of coordination and multidisciplinary synergy in medicine.

  7. Cathepsin D SNP associated with increased risk of variant Creutzfeldt-Jakob disease

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    Sanchez-Juan Pascual

    2008-04-01

    Full Text Available Abstract Background Variant Creutzfeldt-Jakob disease (vCJD originally resulted from the consumption of foodstuffs contaminated by bovine spongiform encephalopathy (BSE material, with 163 confirmed cases in the UK to date. Many thousands are likely to have been exposed to dietary infection and so it is important (for surveillance, epidemic modelling, public health and understanding pathogenesis to identify genetic factors that may affect individual susceptibility to infection. This study looked at a polymorphism in the cathepsin D gene (refSNP ID: rs17571 previously examined in Alzheimer's disease (AD. Methods Blood samples taken from 110 vCJD patients were tested for the C-T base change, and genotype data were compared with published frequencies for a control population using multiple logistic regression. Results There was a significant excess of the cathepsin D polymorphism TT genotype in the vCJD cohort compared to controls. The TT genotype was found to have a 9.75 fold increase in risk of vCJD compared to the CT genotype and a 10.92 fold increase compared to the CC genotype. Conclusion This mutation event has been observed to alter the protease activity of the cathepsin D protein and has been linked to an increase in amyloid beta plaque formation in AD. vCJD neuropathology is characterised by the presence of amyloid plaques, formed from the prion protein, and therefore alterations in the amyloid processing activity of cathepsin D may affect the neuropathogenesis of this disease.

  8. Constant Transmission Properties of Variant Creutzfeldt-Jakob Disease in 5 Countries

    Science.gov (United States)

    Diack, Abigail B.; Ritchie, Diane; Bishop, Matthew; Pinion, Victoria; Brandel, Jean-Philippe; Haik, Stephane; Tagliavini, Fabrizio; Van Duijn, Cornelia; Belay, Ermias D.; Gambetti, Pierluigi; Schonberger, Lawrence B.; Piccardo, Pedro; Will, Robert G.

    2012-01-01

    Variant Creutzfeldt-Jakob disease (vCJD) has been reported in 12 countries. We hypothesized that a common strain of agent is responsible for all vCJD cases, regardless of geographic origin. To test this hypothesis, we inoculated strain-typing panels of wild-type mice with brain material from human vCJD case-patients from France, the Netherlands, Italy, and the United States. Mice were assessed for clinical disease, neuropathologic changes, and glycoform profile; results were compared with those for 2 reference vCJD cases from the United Kingdom. Transmission to mice occurred from each sample tested, and data were similar between non-UK and UK cases, with the exception of the ranking of mean clinical incubation times of mouse lines. These findings support the hypothesis that a single strain of infectious agent is responsible for all vCJD infections. However, differences in incubation times require further subpassage in mice to establish any true differences in strain properties between cases. PMID:23017202

  9. Creutzfeldt-Jakob disease (CJD) in a case of suspected chronic heavy metal poisoning.

    Science.gov (United States)

    Oehmichen, M; Schulz-Schaeffer, W; Kretzschmar, H; Theuerkauf, I; Gerling, I; Windl, O; Meissner, C

    2001-05-01

    We describe a patient who died of suspected heavy metal poisoning after a nine-month history of rapidly worsening dementia. Autopsy at a forensic-pathological institute established the postmortem diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) based on demonstration of the proteinase-resistant prion protein (PrPsSc) in Western-Blot on native brain tissue. Microscopic examination of the macroscopically largely inconspicuous brain revealed marked spongiform changes in the gray matter--mainly affecting the cerebral cortex, nucleus caudatus, and putamen--with confluent vacuoles. Patchy or perivacuolar deposits of PrPSc were found as well as granular PrPsc deposits. The cerebellum contained focal PrPsc deposits. There was an astrogliosis in the white matter and a proliferation of microglia in the gray matter with a simultaneous clear reduction in neuronal elements. The differential diagnosis is discussed, as is the potential risk to those performing autopsy on forensic cases with a clinical picture of rapidly progressing dementia, especially in cases where a prion disease is not initially suspected.

  10. [A case of Creutzfeldt-Jakob disease presenting with arm levitation as an initial symptom].

    Science.gov (United States)

    Kamogawa, Kenji; Ninomiya, Satoko; Okuda, Shinya; Matsumoto, Yushi; Tomita, Hitomi; Okamoto, Kensho; Okuda, Bungo

    2014-01-01

    A 74-year-old, right handed man, developed insidiously with levitation and clumsiness of the right upper limb. His right arm tended to levitate spontaneously, when he was examined. He could put the elevated arm down on command, while the arm resumed to antigravity posture when his attention was diverted. His right arm also exhibited unwilled elevation when performing complex finger movements on the right side. He had a feeling of strangeness of the elevated limb, especially with the eyes closed. In addition to asymmetric limb-kinetic apraxia, combined sensations such as stereognosis were disturbed on the right side. Brain MRI showed high signal lesions predominantly in the left cerebral cortices and basal ganglia. SPECT with (123)I-IMP revealed asymmetric hypoperfusion, predominantly in the left medial frontal and parietal regions. Two months after the onset, levitation of the arm gradually disappeared, with the development of rapidly progressive dementia, frontal signs, dystonia and generalized myoclonus. The diagnosis of Creutzfeldt-Jakob disease (CJD) was made based on the clinical features and cerebrospinal fluid biomarkers. The early manifestation of the patient mimicked corticobasal degeneration which presents with arm levitation or alien hand syndrome. It is suggested that CJD can represent involuntary movements with higher brain dysfunction resembling corticobasal degeneration at the early stage of the illness. Although the underlying mechanism of arm levitation is still unknown, frontal disinhibition and parietal cortical sensory disturbance may contribute to the development of involuntary arm levitation in our patient.

  11. Development of Dose-Response Models of Creutzfeldt-Jakob Disease Infection in Nonhuman Primates for Assessing the Risk of Transfusion-Transmitted Variant Creutzfeldt-Jakob Disease

    Science.gov (United States)

    Gregori, Luisa; Anderson, Steven A.; Asher, David M.

    2014-01-01

    ABSTRACT Estimates for the risk of transmitting variant Creutzfeldt-Jakob disease (vCJD) via blood transfusion have relied largely on data from rodent experiments, but the relationship between dose (amount of infected blood) and response (vCJD infection) has never been well quantified. The goal of this study was to develop a dose-response model based on nonhuman primate data to better estimate the likelihood of transfusion-transmitted vCJD (TTvCJD) in humans. Our model used dose-response data from nonhuman primates inoculated intracerebrally (i.c.) with brain tissues of patients with sporadic and familial CJD. We analyzed the data statistically by using a beta-Poisson dose-response model. We further adjusted model parameters to account for the differences in infectivity between blood and brain tissue and in transmission efficiency between intravenous (i.v.) and i.c. routes to estimate dose-dependent TTvCJD infection. The model estimates a mean infection rate of 76% among recipients who receive one unit of whole blood collected from an infected donor near the end of the incubation period. The nonhuman primate model provides estimates that are more consistent with those derived from a risk analysis of transfused nonleukoreduced red blood cells in the United Kingdom than prior estimates based on rodent models. IMPORTANCE TTvCJD was recently identified as one of three emerging infectious diseases posing the greatest immediate threat to the safety of the blood supply. Cases of TTvCJD were reported in recipients of nonleukoreduced red blood cells and coagulation factor VIII manufactured from blood of United Kingdom donors. As the quantity of abnormal prions (the causative agent of TTvCJD) varies significantly in different blood components and products, it is necessary to quantify the dose-response relationship for a wide range of doses for the vCJD agent in transfused blood and plasma derivatives. In this paper, we suggest the first mechanistic dose-response model for

  12. Creutzfeldt-jakob, Parkinson, lewy body dementia and Alzheimer diseases: from diagnosis to therapy.

    Science.gov (United States)

    Dupiereux, Ingrid; Zorzi, Willy; Quadrio, Isabelle; Perret-Liaudet, Armand; Kovacs, Gabor G; Heinen, Ernst; Elmoualij, Benaïssa

    2009-03-01

    Depositions of proteins in form of amyloid and non-amyloid plaques are common pathogenic signs of more than 20 degenerative diseases affecting the central nervous system or a variety of peripheral tissues. Among the neuropathological conditions, Alzheimer's, Parkinson's and the prion diseases, such as Creutzfeldt-Jakob disease (CJD), present ambiguities as regarding their differential diagnosis. At present, their diagnosis must be confirmed by post-mortem examination of the brain. Currently the ante-mortem diagnosis is still based on the integration of multiple data (clinical, paraclinical and biological analyses) because no unique marker exists for such diseases. The detection of specific biomarkers would be useful to develop a differential diagnostic, distinguishing not only different neurodegenerative diseases but also the disease from the non-pathological effects of aging. Several neurodegenerative biomarkers are present at very low levels during the early stages of the disease development and their ultra-low detection is needed for early diagnosis, which should permit more effective therapeutic interventions, before the disease concerned can progress to a stage where considerable damage to the brain has already occurred. In the case of prion diseases, there are concerns regarding not only patient care, but the wider community too, with regard to the risk of transmission of prions, especially during blood transfusion, for which, four cases of variant CJD infection associated with transfusion of non-leukocyte-depleted blood components have been confirmed. Therefore the development of techniques with high sensitivity and specificity represent the major challenge in the field of the protein misfolding diseases. In this paper we review the current analytical and/or biochemical diagnostic technologies used mainly in prion, but also in Alzheimer and Parkinson diseases and emphasizing work on the protein detection as a surrogates and specific biomarker in the body

  13. Creutzfeldt-Jakob disease : report of 10 cases from North India.

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    Mehndiratta M

    2001-10-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is increasingly being reported over the last three decades as a result of heightened awareness of the disease. Various studies have reported annual incidence of 0.5-1.5 cases of CJD per million of general population. In India, the disease is still under reported. Over the period spanning from 1968-1997, National Institute of Mental Health and Neurosciences (NIMHANS, Bangalore recorded 69 cases of CJD from different parts of India in the CJD registry. This paper describes the clinical experience with cases of CJD managed at the Department of Neurology, G.B. Pant Hospital, New Delhi from 1990-1998. In this series, the mean age of the patients was 53.80 (+/- 7.32 years and there were 5 females and 5 males. Myoclonus was present in all the cases and abnormal behaviour with or without other features was the presenting complaint in 7 of the 10 patients, while one patient of CJD had cerebellar ataxia as the presenting feature. One patient with occipital variant of CJD presented with acute onset cortical blindness and myoclonic jerks. One of the patients had acute psychosis precipitated by emotional stress at the onset. Extrapyramidal features were noted in 7 of the 10 patients before death. The mean duration of symptoms from the onset of disease to death was 6.6 (+/- 6.11 months. Classical EEG changes were observed in all the patients, except in one possible case of occipital variant of CJD, where we did not have access to EEG record. Brain biopsy could be undertaken in 3 patients, and in 2 patients the features of subacute spongiform encephalopathy (SSE were noted.

  14. Isolated language impairment as the primary presentation of sporadic Creutzfeldt Jakob Disease.

    Science.gov (United States)

    El Tawil, S; Chohan, G; Mackenzie, J; Rowe, A; Weller, B; Will, R G; Knight, R

    2017-03-01

    Sporadic Creutzfeldt Jakob Disease (sCJD) is a neurodegenerative disorder that typically presents as a rapidly progressive encephalopathy associated with various neurological features, culminating in akinetic mutism and death. Atypical cases, presenting with an isolated focal may cause diagnostic confusion. We described a series of patients with sCJD presenting with isolated language impairment. We report a patient with sCJD referred to the NCJDRSU, who presented with isolated language impairment and subsequently identified all cases of sporadic CJD on the NCJDRSU database (covering the years 1990-2012) with an isolated language impairment presentation. Nineteen patients (11 females) with sCJD (1.19% of all patients) had an isolated language disorder of at least 2 weeks duration as the first neurological symptom pattern. Mean age at onset was 68.28 years. No specific pattern of language affection was seen in these patients. Further progression usually affected more than one neurological domain, with all patients eventually developing cognitive decline and myoclonic jerks. The median duration of illness was 4 months. CSF 14.3.3 was positive and S100b level was elevated in all patients in whom it was performed. EEG and MRI showed typical features of sCJD in six patients each. Most patients showed MM genotype of PRNP codon 129. This study highlights the fact that isolated aphasia can be the first neurological symptom approximately in 1% of patients with sCJD. The diagnosis is usually made with appearance of other clinical features and investigation results, but in a small minority, these may not be apparent for relatively long periods. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases.

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    Olga Calero

    Full Text Available Alzheimer's disease (AD and Creutzfeldt-Jakob disease (CJD represent two distinct clinical entities belonging to a wider group, generically named as conformational disorders that share common pathophysiologic mechanisms. It is well-established that the APOE ε4 allele and homozygosity at polymorphic codon 129 in the PRNP gene are the major genetic risk factors for AD and human prion diseases, respectively. However, the roles of PRNP in AD, and APOE in CJD are controversial. In this work, we investigated for the first time, APOE and PRNP genotypes simultaneously in 474 AD and 175 sporadic CJD (sCJD patients compared to a common control population of 335 subjects. Differences in genotype distribution between patients and control subjects were studied by logistic regression analysis using age and gender as covariates. The effect size of risk association and synergy factors were calculated using the logistic odds ratio estimates. Our data confirmed that the presence of APOE ε4 allele is associated with a higher risk of developing AD, while homozygosity at PRNP gene constitutes a risk for sCJD. Opposite, we found no association for PRNP with AD, nor for APOE with sCJD. Interestingly, when AD and sCJD patients were stratified according to their respective main risk genes (APOE for AD, and PRNP for sCJD, we found statistically significant associations for the other gene in those strata at higher previous risk. Synergy factor analysis showed a synergistic age-dependent interaction between APOE and PRNP in both AD (SF = 3.59, p = 0.027, and sCJD (SF = 7.26, p = 0.005. We propose that this statistical epistasis can partially explain divergent data from different association studies. Moreover, these results suggest that the genetic interaction between APOE and PRNP may have a biological correlate that is indicative of shared neurodegenerative pathways involved in AD and sCJD.

  16. Enfermedad de Creutzfeldt-Jakob por RMI: alteración cortical como signo temprano de la enfermedad Creutzfeldt-Jakob disease by MRI: Cortical alteration as early sign disease

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    María Fernanda Markarian

    2008-12-01

    Full Text Available Se estudió por RMI un paciente de 59 años con diagnóstico probable de Enfermedad de Creutzfeldt-Jakob desde el inicio de sus síntomas. El paciente comienza con un cuadro de leve deterioro cognitivo. En una primera resonancia en secuencias FLAIR se visualiza hiperintensidad cortical a predomino de hemisferio izquierdo, no observándose en FSE T 2. Se hace más significativa en nueva resonancia en FLAIR y Difusión, con aparición de hiperintensidad en cabeza de ambos caudados y rápido deterioro cognitivo, alteraciones visuales, aparición de signos piramidales y extrapiramidales, convulsiones y mioclonias y mutismo. Con la acentuación de las alteraciones corticales -y en los ganglios de la base en una tercera resonancia-, el paciente trasforma su ECG de ritmo lento a un ritmo de punta-onda bifásico y trifásico. A 3 meses de la primera resonancia, nuevas imágenes muestran atrofia e importante hiperintensidad cortical y en ganglios de la base. En conclusión, las secuencias FLAIR y Difusión serían más sensibles que las secuencias T2 en la detección del aumento de intensidad de señal en la corteza cerebral, siendo un indicio diagnóstico temprano de la enfermedad de Creutzfeld-Jakob.A 59-year-old man with probable Creutzfeldt-Jakob disease was studied from early symptoms. The patients manifested mild cognitive impairment. The first magnetic resonance showed hiperintense signal cortical abnormalities in FLAIR sequence predominantly in left hemisphere, FSE T2 no showed abnormalities. In other resonance those abnormities were more significative and appeared head of the caudate nucleus abnormalities in FLAIR and Diffusion-weighted, the patients began with rapidly progressing impairment, visual disturbance, pyramidal and extrapyramidal signs, seizures, myoclonus and mutism. The third resonance revealed cortical and basal ganglia high signal intensity abnormalities and the patient transformed slowing EEG to biphasic and triphasic sharp

  17. Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    E.A. Croes (Esther); B.Z. Alizadeh (Behrooz); A.M. Bertoli Avella (Aida); T.A.M. Rademaker (Tessa); J. Vergeer-Drop (Jeannette); B. Dermaut (Bart); J.J. Houwing-Duistermaat (Jeanine); D.P.W.M. Wientjens (Dorothee); A. Hofman (Albert); C. van Broeckhoven (Christine); C.M. van Duijn (Cock)

    2004-01-01

    textabstractThe prion protein gene (PRNP) plays a central role in the origin of Creutzfeldt-Jakob disease (CJD), but there is growing interest in other polymorphisms that may be involved in CJD. Polymorphisms upstream of PRNP that may modulate the prion protein production as well as polymorphisms in

  18. Variant Creutzfeldt-Jakob Disease in France and the United Kingdom: Evidence for the Same Agent Strain

    NARCIS (Netherlands)

    Brandel, J.P.; Heath, C.A.; Head, M.W.; Levavasseur, E.; Knight, R.; Laplanche, J.L.; Langeveld, J.P.M.; Ironside, J.W.; Hauw, J.J.; Mackenzie, J.; Alperovitch, A.; Will, R.G.; Haik, S.

    2009-01-01

    Objective: Variant Creutzfeldt-Jakob disease (vCJD) was first reported in the United Kingdom in 1996. Since then, the majority of cases have been observed in the United Kingdom where there was a major epidemic of bovine spongiform encephalopathy. France was the second country affected. To address th

  19. Nosocomial transmission of sporadic Creutzfeldt-Jakob disease: results from a risk-based assessment of surgical interventions

    DEFF Research Database (Denmark)

    de Pedro-Cuesta, Jesús; Mahillo-Fernández, Ignacio; Rábano, Alberto

    2011-01-01

    Evidence of surgical transmission of sporadic Creutzfeldt-Jakob disease (sCJD) remains debatable in part due to misclassification of exposure levels. In a registry-based case-control study, the authors applied a risk-based classification of surgical interventions to determine the association betw...

  20. Bioassay studies support the potential for iatrogenic transmission of variant Creutzfeldt Jakob Disease through dental procedures.

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    Elizabeth Kirby

    Full Text Available BACKGROUND: Evidence is required to quantify the potential risks of transmission of variant Creutzfeldt Jakob (vCJD through dental procedures. Studies, using animal models relevant to vCJD, were performed to address two questions. Firstly, whether oral tissues could become infectious following dietary exposure to BSE? Secondly, would a vCJD-contaminated dental instrument be able to transmit disease to another patient? METHODS: BSE-301V was used as a clinically relevant model for vCJD. VM-mice were challenged by injection of infected brain homogenate into the small intestine (Q1 or by five minute contact between a deliberately-contaminated dental file and the gingival margin (Q2. Ten tissues were collected from groups of challenged mice at three or four weekly intervals, respectively. Each tissue was pooled, homogenised and bioassayed in indicator mice. FINDINGS: Challenge via the small intestine gave a transmission rate of 100% (mean incubation 157±17 days. Infectivity was found in both dental pulp and the gingival margin within 3 weeks of challenge and was observed in all tissues tested within the oral cavity before the appearance of clinical symptoms. Following exposure to deliberately contaminated dental files, 97% of mice developed clinical disease (mean incubation 234±33 days. INTERPRETATION: Infectivity was higher than expected, in a wider range of oral tissues, than was allowed for in previous risk assessments. Disease was transmitted following transient exposure of the gingiva to a contaminated dental file. These observations provide evidence that dental procedures could be a route of cross-infection for vCJD and support the enforcement of single-use for certain dental instruments.

  1. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease

    Science.gov (United States)

    Kallenberg, K.; Summers, D. M.; Romero, C.; Taratuto, A.; Heinemann, U.; Breithaupt, M.; Varges, D.; Meissner, B.; Ladogana, A.; Schuur, M.; Haik, S.; Collins, S. J.; Jansen, Gerard H.; Stokin, G. B.; Pimentel, J.; Hewer, E.; Collie, D.; Smith, P.; Roberts, H.; Brandel, J. P.; van Duijn, C.; Pocchiari, M.; Begue, C.; Cras, P.; Will, R. G.; Sanchez-Juan, P.

    2009-01-01

    Several molecular subtypes of sporadic Creutzfeldt–Jakob disease have been identified and electroencephalogram and cerebrospinal fluid biomarkers have been reported to support clinical diagnosis but with variable utility according to subtype. In recent years, a series of publications have demonstrated a potentially important role for magnetic resonance imaging in the pre-mortem diagnosis of sporadic Creutzfeldt–Jakob disease. Magnetic resonance imaging signal alterations correlate with distinct sporadic Creutzfeldt–Jakob disease molecular subtypes and thus might contribute to the earlier identification of the whole spectrum of sporadic Creutzfeldt–Jakob disease cases. This multi-centre international study aimed to provide a rationale for the amendment of the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease. Patients with sporadic Creutzfeldt–Jakob disease and fluid attenuated inversion recovery or diffusion-weight imaging were recruited from 12 countries. Patients referred as ‘suspected sporadic Creutzfeldt–Jakob disease’ but with an alternative diagnosis after thorough follow up, were analysed as controls. All magnetic resonance imaging scans were assessed for signal changes according to a standard protocol encompassing seven cortical regions, basal ganglia, thalamus and cerebellum. Magnetic resonance imaging scans were evaluated in 436 sporadic Creutzfeldt–Jakob disease patients and 141 controls. The pattern of high signal intensity with the best sensitivity and specificity in the differential diagnosis of sporadic Creutzfeldt–Jakob disease was identified. The optimum diagnostic accuracy in the differential diagnosis of rapid progressive dementia was obtained when either at least two cortical regions (temporal, parietal or occipital) or both caudate nucleus and putamen displayed a high signal in fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging. Based on our analyses, magnetic

  2. Bitemporal hypometabolism in Creutzfeldt-Jakob disease measured by positron emission tomography with (/sup 18/F)-2-fluorodeoxyglucose

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    Friedland, R.P.; Prusiner, S.B.; Jagust, W.J.; Budinger, T.F.; Davis, R.L.

    1984-10-01

    It is well established that Creutzfeldt-Jakob disease (CJD) is caused by a slow infectious agent similar to the scrapie prion. However, the pathogenesis of this infection is poorly understood. Positron emission tomography (PET) was performed on a 54-year-old man with autopsy confirmed CJD using (18F)-2-fluorodeoxyglucose (FDG) and the Donner 280-crystal tomograph. Temporal lobe hypometabolism with hemispheric asymmetry was observed. These findings are similar to those previously obtained in PET-FDG studies of patients with clinically defined Alzheimer disease (AD). The similarities in the regional metabolic alterations between CJD and AD provide additional evidence for the possibility that AD may be caused by a slow infectious prion.

  3. Panencephalopathic Creutzfeldt-Jakob disease with distinct pattern of prion protein deposition in a patient with D178N mutation and homozygosity for valine at codon 129 of the prion protein Gene.

    Science.gov (United States)

    Marcon, Gabriella; Indaco, Antonio; Di Fede, Giuseppe; Suardi, Silvia; Finato, Nicoletta; Moretti, Valentino; Micoli, Sandro; Fociani, Paolo; Zerbi, Pietro; Pincherle, Alessandro; Redaelli, Veronica; Tagliavini, Fabrizio; Giaccone, Giorgio

    2014-03-01

    Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein (PrP) gene (PRNP). In subjects carrying the D178N PRNP mutation, distinct phenotypes can be observed, depending on the methionine/valine codon 129 polymorphism. We present here a 53-year-old woman with D178N mutation in the PRNP gene and homozygosity for valine at codon 129. The disease started at age 47 with memory deficits, progressive cognitive impairment and ataxia. The clinical picture slowly worsened to a state of akinetic mutism in about 2 years and the disease course was 6 years. The neuropathologic examination demonstrated severe diffuse cerebral atrophy with neuronal loss, spongiosis and marked myelin loss and tissue rarefaction in the hemispheric white matter, configuring panencephalopathic Creutzfeldt-Jakob disease. PrP deposition was present in the cerebral cortex, basal ganglia and cerebellum with diffuse synaptic-type pattern of immunoreactivity and clusters of countless, small PrP deposits, particularly evident in the lower cortical layers, in the striatum and in the molecular layer of the cerebellum. Western blot analysis showed the presence of type 1 PrP(Sc) (Parchi classification). These findings underline the clear-cut distinction between the neuropathological features of Creutzfeldt-Jakob disease associated with D178N PRNP mutation and those of fatal familial insomnia.

  4. Creutzfeldt-Jakob disease in Japan: an epidemiological study done in a select prefecture between 1976 and 1986.

    Science.gov (United States)

    Akai, J; Ishihara, O; Higuchi, S

    1989-01-01

    An epidemiological study was performed with respect to Creutzfeldt-Jakob disease in a designated area in Japan. The subjects were observed in a small rural prefecture where the population generally remains within a limited radius throughout their lives. The patients' life-styles in each area were investigated in detail. Nine cases appeared in 11 years; 6 were definitive and 3 probable. They were all of the subacute type; there were no noteworthy sexual differences, age of onset, course and/or past histories. Three of the nine cases came from two families; the relationship between familial and isolated cases was examined. Revealed facts and time-space clustering were investigated statistically, but no indication of natural transmission was observable.

  5. Heidenhain variant of Creutzfeldt-Jakob disease: An autopsy study from India

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    Kher Monica

    2009-01-01

    Full Text Available Prion diseases are rare, progressive and fatal neurodegenerative diseases characterized by long incubation period and short clinical course. We present a rare case of Heidenhain variant of Creutzfeldt-Jakob disease, occurring in a 55-year-old lady presenting with dementia, cortical blindness, and myoclonic jerks. She succumbed to the disease within 8 weeks of onset of symptoms. MRI revealed hyperintense signals on T2WI and fluid attenuated inversion recovery (FLAIR images in basal ganglia and fronto-temporal and parietal cortex, sparing thalamus, striate cortex and globus pallidum. Abundant abnormal prion protein deposits (PrP sc were detected in caudate, putamen, thalamus, cingulate and striate cortex, in comparison to frontal and parietal cortex while no deposits were found in globus pallidum. MRI changes did not correlate with degree of spongy change, gliosis or prion protein deposition. The cause for abnormal signal changes in MRI and FLAIR images remains unclear.

  6. Chinese specific characteristics of sporadic Creutzfeldt-Jakob disease: a retrospective analysis of 57 cases.

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    Wei Zhao

    Full Text Available OBJECTIVE: Sporadic Creutzfeldt-Jakob disease (sCJD is a fatal and transmissible neurodegenerative disorder. However, no studies have reported Chinese specific characteristics of sCJD. We aimed to identify differences in sCJD between Chinese patients and patients from other countries. METHODS: The data from 57 Chinese sCJD patients were retrospectively analyzed, including demographic data, clinical manifestations, laboratory examinations, electroencephalograms (EEGs, diffusion-weighted imaging (DWI scans, positron emission tomography (PET scans, and pathological results. RESULT: The disease was pathologically confirmed in 11 patients. 39 cases were diagnosed as probable sCJD, and 7 were possible. Of the total cases, 33 were male, and 24 were female. The onset age ranged from 36 to 75 years (mean: 55.5, median: 57. Disease onset before the age of 60 occurred in 57.9% of patients. The disease duration from onset to death ranged 5-22 months (mean: 11.6, median: 11, and 51.9% of patients died 7 to 12 months after disease onset. The majority of patients presented with sub-acute onset with progressive dementia. 3 of the 9 patients who took 14-3-3 protein analysis had positive results (33.3%. The sensitivity of EEG was 79.6% (43/54. For DWI and PET examinations, the sensitivities were 94% (47/50 and 94.1% (16/17, respectively. In seven patients who did not show typical hyper-intensities on the first DWI examination, abnormalities of hypo-metabolism in the cerebral cortex were clearly detected by PET. In 13 out of the 17 patients, PET detected extra abnormal regions in addition to the hyper-intense areas observed in DWI. CONCLUSION: This is the first study to indicate that Chinese sCJD patients have a much earlier onset age and a longer disease duration than other populations, which is most likely related to racial differences. The longer disease duration may also be a probable characteristic of Asian populations. PET had high sensitivity for the

  7. Unique inflammatory RNA profiles of microglia in Creutzfeldt-Jakob disease

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    Baker, Christopher A.; Manuelidis, Laura

    2003-01-01

    Previous studies in Creutzfeldt-Jakob disease (CJD) have shown that myeloid cells in the periphery as well as derivative microglial cells in the brain are infectious. Microglia can show an activated phenotype before prion protein (PrP) pathology is detectable in brain, and isolated infectious microglia contain very little PrP. To find whether a set of inflammatory genes are significantly induced or suppressed with infection, we analyzed RNA from isolated microglia with relevant cDNA arrays, and identified 30 transcripts not previously examined in any transmissible spongiform encephalopathy. This CJD expression profile contrasted with that of uninfected microglia exposed to prototypic inflammatory stimuli such as lipopolysaccharide and IFN-, as well as PrP amyloid. These findings underscore inflammatory pathways evoked by the infectious agent in brain. Transcript profiles unique for CJD microglia and other myeloid cells provide opportunities for more sensitive preclinical diagnoses of infectious and noninfectious neurodegenerative diseases.

  8. Creutzfeldt-Jakob disease: A great masquerade in neurology, a rare case report from South India

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    Sivaprakash Varadan

    2015-01-01

    Full Text Available Creutzfeldt-Jakob disease (CJD is a rare, fatal neurodegenerative disease caused by an infectious protein called prion and is characterized by spongiform changes, neuronal loss, reactive astrocytic proliferation, and accumulation of pathologic cellular protein. Clinical presentation of CJD is characterized by rapidly progressive dementia, neurologic symptoms and visual impairment, and the development of akinetic mutism, which can mimic many neurological conditions. The diagnosis is based on clinical presentation, electroencephalogram, and typical cerebrospinal fluid and magnetic resonance imaging (MRI findings. Literature on the incidence and prevalence of CJD is lacking in South India. We report the case of a 57-year-old woman with progressive dementia and typical neurologic symptoms, myoclonic jerks, and MRI findings of CJD. This case highlights the need for a high index of suspicion to diagnose CJD.

  9. A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis?

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    Tan, Bowei; Morales Mangual, Carlos; Mahmud, Iftekhar; Tongo, Nosakhare D; Mararenko, Larisa; Kay, Arthur

    2017-05-30

    Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this disease and varied initial symptoms make the early diagnosis fairly challenging. Here, we present a case initially admitted for confusion and bizarre behaviors. She had acute deterioration of mental status, akinetic mutism, and myoclonus jerks four weeks later. Cerebrospinal fluid (CSF) analysis was positive for protein 14-3-3. Brain magnetic resonance imaging (MRI) showed hyperintensities in the bilateral cortex, basal ganglia, and thalami in diffusion-weighted imaging (DWI). Electroencephalogram (EEG) showed bihemispheric periodic lateralizing epileptiform discharges. The probable diagnosis of sCJD was reached based on the clinical features, characteristic findings in her MRI, the EEG, and a positive 14-3-3 CSF assay. The literature was also reviewed for early diagnosis of sCJD.

  10. The Heidenhain variant of Creutzfeldt-Jakob disease and concomitant tau pathology: A case report.

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    Ehler, Edvard; Pipka, Michael; Meleková, Alena; Mandysová, Petra; Johanidesová, Silvie; Matěj, Radoslav; Rusina, Robert

    2017-02-10

    The Heidenhain form of Creutzfeldt-Jakob disease (CJD) is a rare CJD variant with predominantly visual symptoms in the early stages. Clinical manifestations of metamorphopsia, hemianopia and Balint's syndrome correlate with the involvement of the posterior cortical regions. A 71-year old healthy and very active man was admitted because of impaired visual acuity, hemianopia, and gait disturbance progressing over one week. MRI found typical cortical hyperintensities in the occipital regions while rhythm slowing and sharp waves were seen in the occipital regions on EEG. Protein 14-3-3 was detected in the cerebrospinal fluid. Postmortem neuropathology revealed typical histopathological changes consistent with CJD. Moreover, we found deposits of phosphorylated tau protein in the limbic regions that met the criteria for primary age-related tauopathy (PART); representing an additional and interesting finding in our case.

  11. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.

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    Sanchez-Juan, Pascual; Bishop, Matthew T; Kovacs, Gabor G; Calero, Miguel; Aulchenko, Yurii S; Ladogana, Anna; Boyd, Alison; Lewis, Victoria; Ponto, Claudia; Calero, Olga; Poleggi, Anna; Carracedo, Ángel; van der Lee, Sven J; Ströbel, Thomas; Rivadeneira, Fernando; Hofman, Albert; Haïk, Stéphane; Combarros, Onofre; Berciano, José; Uitterlinden, Andre G; Collins, Steven J; Budka, Herbert; Brandel, Jean-Philippe; Laplanche, Jean Louis; Pocchiari, Maurizio; Zerr, Inga; Knight, Richard S G; Will, Robert G; van Duijn, Cornelia M

    2014-01-01

    We performed a genome-wide association (GWA) study in 434 sporadic Creutzfeldt-Jakob disease (sCJD) patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a multinational consortium. From the initial GWA analysis we selected 23 SNPs for further genotyping in 1109 sCJD cases from seven different countries. Five SNPs were significantly associated with sCJD after correction for multiple testing. Subsequently these five SNPs were genotyped in 2264 controls. The pooled analysis, including 1543 sCJD cases and 4203 controls, yielded two genome wide significant results: rs6107516 (p-value=7.62x10-9) a variant tagging the prion protein gene (PRNP); and rs6951643 (p-value=1.66x10-8) tagging the Glutamate Receptor Metabotropic 8 gene (GRM8). Next we analysed the data stratifying by country of origin combining samples from the pooled analysis with genotypes from the 1000 Genomes Project and imputed genotypes from the Rotterdam Study (Total n=12967). The meta-analysis of the results showed that rs6107516 (p-value=3.00x10-8) and rs6951643 (p-value=3.91x10-5) remained as the two most significantly associated SNPs. Rs6951643 is located in an intronic region of GRM8, a gene that was additionally tagged by a cluster of 12 SNPs within our top100 ranked results. GRM8 encodes for mGluR8, a protein which belongs to the metabotropic glutamate receptor family, recently shown to be involved in the transduction of cellular signals triggered by the prion protein. Pathway enrichment analyses performed with both Ingenuity Pathway Analysis and ALIGATOR postulates glutamate receptor signalling as one of the main pathways associated with sCJD. In summary, we have detected GRM8 as a novel, non-PRNP, genome-wide significant marker associated with heightened disease risk, providing additional evidence supporting a role of glutamate receptors in sCJD pathogenesis.

  12. A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk.

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    Pascual Sanchez-Juan

    Full Text Available We performed a genome-wide association (GWA study in 434 sporadic Creutzfeldt-Jakob disease (sCJD patients and 1939 controls from the United Kingdom, Germany and The Netherlands. The findings were replicated in an independent sample of 1109 sCJD and 2264 controls provided by a multinational consortium. From the initial GWA analysis we selected 23 SNPs for further genotyping in 1109 sCJD cases from seven different countries. Five SNPs were significantly associated with sCJD after correction for multiple testing. Subsequently these five SNPs were genotyped in 2264 controls. The pooled analysis, including 1543 sCJD cases and 4203 controls, yielded two genome wide significant results: rs6107516 (p-value=7.62x10-9 a variant tagging the prion protein gene (PRNP; and rs6951643 (p-value=1.66x10-8 tagging the Glutamate Receptor Metabotropic 8 gene (GRM8. Next we analysed the data stratifying by country of origin combining samples from the pooled analysis with genotypes from the 1000 Genomes Project and imputed genotypes from the Rotterdam Study (Total n=12967. The meta-analysis of the results showed that rs6107516 (p-value=3.00x10-8 and rs6951643 (p-value=3.91x10-5 remained as the two most significantly associated SNPs. Rs6951643 is located in an intronic region of GRM8, a gene that was additionally tagged by a cluster of 12 SNPs within our top100 ranked results. GRM8 encodes for mGluR8, a protein which belongs to the metabotropic glutamate receptor family, recently shown to be involved in the transduction of cellular signals triggered by the prion protein. Pathway enrichment analyses performed with both Ingenuity Pathway Analysis and ALIGATOR postulates glutamate receptor signalling as one of the main pathways associated with sCJD. In summary, we have detected GRM8 as a novel, non-PRNP, genome-wide significant marker associated with heightened disease risk, providing additional evidence supporting a role of glutamate receptors in sCJD pathogenesis.

  13. A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease.

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    Olga Calero

    Full Text Available The β site APP cleaving enzyme 1 (BACE1 is the rate-limiting β-secretase enzyme in the amyloidogenic processing of APP and Aβ formation, and therefore it has a prominent role in Alzheimer's disease (AD pathology. Recent evidence suggests that the prion protein (PrP interacts directly with BACE1 regulating its β-secretase activity. Moreover, PrP has been proposed as the cellular receptor involved in the impairment of synaptic plasticity and toxicity caused by Aβ oligomers. Provided that common pathophysiologic mechanisms are shared by Alzheimer's and Creutzfeldt-Jakob (CJD diseases, we investigated for the first time to the best of our knowledge a possible association of a common synonymous BACE1 polymorphism (rs638405 with sporadic CJD (sCJD. Our results indicate that BACE1 C-allele is associated with an increased risk for developing sCJD, mainly in PRNP M129M homozygous subjects with early onset. These results extend the very short list of genes (other than PRNP involved in the development of human prion diseases; and support the notion that similar to AD, in sCJD several loci may contribute with modest overall effects to disease risk. These findings underscore the interplay in both pathologies of APP, Aβ oligomers, ApoE, PrP and BACE1, and suggest that aging and perhaps vascular risk factors may modulate disease pathologies in part through these key players.

  14. Cerebroventricular infusion of pentosan polysulphate in human variant Creutzfeldt-Jakob disease.

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    Todd, N V; Morrow, J; Doh-ura, K; Dealler, S; O'Hare, S; Farling, P; Duddy, M; Rainov, N G

    2005-06-01

    Variant Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy believed to be caused by the bovine spongiform encephalopathy agent, an abnormal isoform of the prion protein (PrP(sc)). At present there is no specific or effective treatment available for any form of CJD. Pentosan polysulphate (PPS), a large polyglycoside molecule with weak heparin-like activity, has been shown to prolong the incubation period of the intracerebral infection when administered to the cerebral ventricles in a rodent scrapie model. PPS also prevents the production of further PrP(sc) in cell culture models. These properties of PPS prompted its cerebroventricular administration in a young man with vCJD. Long-term continuous infusion of PPS at a dose of 11 microg/kg/day for 18 months did not cause drug-related side effects. Follow-up CT scans demonstrated progressive brain atrophy during PPS administration. Further basic and clinical research is needed in order to address the issue of efficacy of PPS in vCJD and in other prion diseases.

  15. Subtype and regional-specific neuroinflammation in sporadic creutzfeldt-jakob disease.

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    Llorens, Franc; López-González, Irene; Thüne, Katrin; Carmona, Margarita; Zafar, Saima; Andréoletti, Olivier; Zerr, Inga; Ferrer, Isidre

    2014-01-01

    The present study identifies deregulated cytokines and mediators of the immune response in the frontal cortex and cerebellum of sporadic Creutzfeldt-Jakob disease (sCJD) MM1 and VV2 subtypes compared to age-matched controls. Deregulated genes include pro- and anti-inflammatory cytokines, toll-like receptors, colony stimulating factors, cathepsins, members of the complement system, and members of the integrin and CTL/CTLD family with particular regional and sCJD subtype patterns. Analysis of cytokines and mediators at protein level shows expression of selected molecules and receptors in neurons, in astrocytes, and/or in microglia, thus suggesting interactions between neurons and glial cells, mainly microglia, in the neuroinflammatory response in sCJD. Similar inflammatory responses have been shown in the tg340 sCJD MM1 mice, revealing a progressive deregulation of inflammatory mediators with disease progression. Yet, inflammatory molecules involved are subjected to species differences in humans and mice. Moreover, inflammatory-related cell signaling pathways NFκB/IKK and JAK/STAT are activated in sCJD and sCJD MM1 mice. Together, the present observations show a self-sustained complex inflammatory and inflammatory-related responses occurring already at early clinical stages in animal model and dramatically progressing at advanced stages of sCJD. Considering this scenario, measures tailored to modulate (activate or inhibit) specific molecules could be therapeutic options in CJD.

  16. Diffusion-Weighted MRI in Creutzfeldt-Jakob Disease: Focus on the Cerebral Cortex and Chronologic Change

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    Lee, Jeong Eun; Song, Chang Joon; Lee, In Ho [Chungnam National University, Daejeon (Korea, Republic of); Yu, In Kyu [Eulji University Hospital, Seoul (Korea, Republic of); Choi, See Sung [Wonkwang University Hospital, Iksan (Korea, Republic of)

    2010-08-15

    To evaluate high cortical signal intensity and chronologic changes for diffusion-weighted MR imaging (DWI) in sporadic Creutzfeldt-Jakob disease. We retrospectively analyzed the DWI results of 16 patients with probable CJD (according to WHO criteria) and evaluated the distribution, extent and bilaterality of the lesions in the cortex, basal ganglia and thalamus. We also reviewed the chronologic changes of the lesions by evaluating the followup MR examination results in 8 of 16 patients. Cortical abnormalities were present in 15 (94%) of 16 patients. Isolated cortical involvement was present in 6 patients (40%), while the combined involvement of the cortex and basal ganglia was present in 9 patients (60%). The distribution of the lesions was bilateral in 12 patients and predominantly on the right side in 8 patients. Upon follow-up MR imaging, the cortical lesions showed progress in terms of extent and signal intensity. Basal ganglia abnormalities were present in 9 of 15 patients. Moreover, 4 of 6 patients who had no abnormal signal intensity in the basal ganglia on the initial MR imaging results, showed abnormally high signal intensity upon follow-up MR imaging. The characteristically high cortical signal intensities on DWI in an elderly patient with rapidly progressive dementia should point to the diagnosis of early phase CJD and might be useful for the differential diagnosis.

  17. MM2-thalamic Creutzfeldt-Jakob disease: neuropathological, biochemical and transmission studies identify a distinctive prion strain.

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    Moda, Fabio; Suardi, Silvia; Di Fede, Giuseppe; Indaco, Antonio; Limido, Lucia; Vimercati, Chiara; Ruggerone, Margherita; Campagnani, Ilaria; Langeveld, Jan; Terruzzi, Alessandro; Brambilla, Antonio; Zerbi, Pietro; Fociani, Paolo; Bishop, Matthew T; Will, Robert G; Manson, Jean C; Giaccone, Giorgio; Tagliavini, Fabrizio

    2012-09-01

    In Creutzfeldt-Jakob disease (CJD), molecular typing based on the size of the protease resistant core of the disease-associated prion protein (PrP(Sc) ) and the M/V polymorphism at codon 129 of the PRNP gene correlates with the clinico-pathologic subtypes. Approximately 95% of the sporadic 129MM CJD patients are characterized by cerebral deposition of type 1 PrP(Sc) and correspond to the classic clinical CJD phenotype. The rare 129MM CJD patients with type 2 PrP(Sc) are further subdivided in a cortical and a thalamic form also indicated as sporadic fatal insomnia. We observed two young patients with MM2-thalamic CJD. Main neuropathological features were diffuse, synaptic PrP immunoreactivity in the cerebral cortex and severe neuronal loss and gliosis in the thalamus and olivary nucleus. Western blot analysis showed the presence of type 2A PrP(Sc) . Challenge of transgenic mice expressing 129MM human PrP showed that MM2-thalamic sporadic CJD (sCJD) was able to transmit the disease, at variance with MM2-cortical sCJD. The affected mice showed deposition of type 2A PrP(Sc) , a scenario that is unprecedented in this mouse line. These data indicate that MM2-thalamic sCJD is caused by a prion strain distinct from the other sCJD subtypes including the MM2-cortical form. © 2012 The Authors; Brain Pathology © 2012 International Society of Neuropathology.

  18. Racial and ethnic differences in individuals with sporadic Creutzfeldt-jakob disease in the United States of America.

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    Brian S Appleby

    Full Text Available BACKGROUND: Little is known about racial and ethnic differences in individuals with sporadic Creutzfeldt-Jakob disease (sCJD. The authors sought to examine potential clinical, diagnostic, genetic, and neuropathological differences in sCJD patients of different races/ethnicities. METHODOLOGY/PRINCIPAL FINDINGS: A retrospective study of 116 definite and probable sCJD cases from Johns Hopkins and the Department of Veterans Affairs Healthcare Systems was conducted that examined differences in demographic, clinical, diagnostic, genetic, and neuropathological characteristics among racial/ethnic groups. Age at disease onset differed among racial/ethnic groups. Non-Hispanic Whites had a significantly older age at disease onset compared to the other groups (65 vs. 60, p = 0.036. Non-Whites were accurately diagnosed more rapidly than Whites (p = 0.008 and non-Hispanic Whites were more likely to have normal appearing basal ganglia on brain magnetic resonance imaging (MRI compared to minorities (p = 0.02. Whites were also more likely to undergo post-mortem evaluation compared to non-Whites (p = 0.02. CONCLUSIONS/SIGNIFICANCE: Racial/ethnic groups affected by sCJD demonstrated differences in age at disease onset, time to correct diagnosis, clinical presentation, and diagnostic test results. Whites were more likely to undergo autopsy compared to non-Whites. These results have implications in regards to case ascertainment, diagnosis, and surveillance of sCJD and possibly other human prion diseases.

  19. Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc.

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    Puoti, Gianfranco; Giaccone, Giorgio; Mangieri, Michela; Limido, Lucia; Fociani, Paolo; Zerbi, Pietro; Suardi, Silvia; Rossi, Giacomina; Iussich, Selina; Capobianco, Raffaella; Di Fede, Giuseppe; Marcon, Gabriella; Cotrufo, Roberto; Filippini, Graziella; Bugiani, Orso; Tagliavini, Fabrizio

    2005-10-01

    In prion-related encephalopathies, microglial activation occurs early and is dependent on accumulation of disease-specific forms of the prion protein (PrPSc) and may play a role in nerve cell death. Previously, we found that different types of PrPSc (i.e. type 1 and type 2) coexisted in approximately 25% of patients with sporadic Creutzfeldt-Jakob disease (CJD); and a close relationship was detected between PrPSc type, the pattern of PrP immunoreactivity, and extent of spongiform degeneration. To investigate whether microglial reaction is related to the biochemical type and deposition pattern of PrPSc, we carried out a neuropathologic and biochemical study on 26 patients with sporadic CJD, including all possible genotypes at codon 129 of the prion protein gene. By quantitative analysis, we demonstrated that strong microglial activation was associated with type 1 PrPSc and diffuse PrP immunoreactivity, whereas type 2 PrPSc and focal PrP deposits were accompanied by mild microglia reaction. These findings support the view that the phenotypic heterogeneity of sporadic CJD is largely determined by the physicochemical properties of distinct PrPSc conformers.

  20. Bitemporal hypometabolism in Creutzfeldt-Jakob Disease measured by positron emission tomography with (F-18)2-fluorodeoxyglucose

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    Friedland, R.P.; Budinger, T.F.; Prusiner, S.B.; Jagust, W.J.

    1984-01-01

    It is well established that Creutzfeldt-Jakob Disease (CJD) is caused by a slow infectious agent similar to the scrapie prion. However, the pathogenesis of this infection is poorly understood. Positron emission tomography (PET) was performed on a 54 year old male subject with autopsy confirmed CJD using (F-18)2-fluorodeoxyglucose (FDG) and the Donner 280-crystal tomograph. An x-ray computed tomographic study of the brain performed 4 days prior to PET was normal. In the PET study the frontal to temporal cortex difference of activity densities was 30% on the left and 12% on the right, reflecting temporal hypometabolism. The left-right temporal cortex difference of activity density was 25%, documenting marked hemispheric asymmetry. These findings are similar to those previously obtained in PET-FDG studies of patients with clinically defined Alzheimer's Disease (AD) and are distinctly different from PET-FDG finding in patients with other dementing illnesses or in healthy aged subjects. Recent work has demonstrated extensive biological similarities between CJD, scrapie and AD. The similarities in the regional metabolic alterations between CJD and AD provide additional evidence for the hypothesis that AD is caused by a slow infectious (prion-like) pathogen.

  1. Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years

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    Deguchi Kentaro

    2012-11-01

    Full Text Available Abstract Background We report a female patient with familial Creutzfeldt-Jakob disease with V180I mutation (fCJD with V180I, who was serially followed up with magnetic resonance imaging (MRI and electroencephalogram (EEG for up to four years. Case presentation At 6 months after the onset, diffusion-weighted images (DWI and fluid-attenuated inversion recovery (FLAIR of brain MRI revealed an increased signal intensity in the bilateral frontal, temporal, and parietal cerebral cortex with left dominancy except for the occipital lobe. However, her follow-up MRI at four years showed the high-signal regions spreading to the occipital cerebral cortex in DWI and FLAIR images, and bilateral frontal cerebral white matter in FLAIR images. EEG showed a progressive and general slow high-voltage rhythm from 7–8 to 3–5 c/s over four years, without evidence of periodic synchronous discharge. These findings correspond to the symptom progression even after akinetic mutism at 18 months. Conclusion We suggest that serial MRI and EEG examinations are useful for early diagnosis of fCJD with V180I and for monitoring disease progression.

  2. Genetic and Transcriptomic Profiles of Inflammation in Neurodegenerative Diseases: Alzheimer, Parkinson, Creutzfeldt-Jakob and Tauopathies.

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    López González, Irene; Garcia-Esparcia, Paula; Llorens, Franc; Ferrer, Isidre

    2016-02-04

    Polymorphisms in certain inflammatory-related genes have been identified as putative differential risk factors of neurodegenerative diseases with abnormal protein aggregates, such as sporadic Alzheimer's disease (AD) and sporadic Parkinson's disease (sPD). Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau). The studies have disclosed variable gene regulation which is: (1) disease-dependent in the frontal cortex area 8 in AD, sPD, sCJD MM1 and VV2, PiD, PSP and FTLD-tau; (2) region-dependent as seen when comparing the entorhinal cortex, orbitofrontal cortex, and frontal cortex area 8 (FC) in AD; the substantia nigra, putamen, FC, and angular gyrus in PD, as well as the FC and cerebellum in sCJD; (3) genotype-dependent as seen considering sCJD MM1 and VV2; and (4) stage-dependent as seen in AD at different stages of disease progression. These observations show that regulation of inflammation is much more complicated and diverse than currently understood, and that new therapeutic approaches must be designed in order to selectively act on specific targets in particular diseases and at different time points of disease progression.

  3. Sporadic Creutzfeldt-Jakob disease with focal findings: caveats to current diagnostic criteria

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    Edward C. Mader

    2013-02-01

    Full Text Available The clinical diagnosis of Creutzfeldt-Jakob disease (CJD is largely based on the 1998 World Health Organization diagnostic criteria. Unfortunately, rigid compliance with these criteria may result in failure to recognize sporadic CJD (sCJD, especially early in its course when focal findings predominate and traditional red flags are not yet present. A 61-year-old man presented with a 3-week history of epilepsia partialis continua (jerking of the left upper extremity and a 2-week history of forgetfulness and left hemiparesis; left hemisensory neglect was also detected on admission. Repeated brain magnetic resonance imaging (MRI showed areas of restricted diffusion in the cerebral cortex, initially on the right but later spreading to the left. Electroencephalography (EEG on hospital days 7, 10, and 14 showed right-sided periodic lateralized epileptiform discharges. On day 20, the EEG showed periodic sharp wave complexes leading to a diagnosis of probable sCJD and subsequently to definite sCJD with brain biopsy. Neurological decline was relatively fast with generalized myoclonus and akinetic mutism developing within 7 weeks from the onset of illness. CJD was not immediately recognized because of the patient’s focal/lateralized manifestations. Focal/lateralized clinical, EEG, and MRI findings are not uncommon in sCJD and EEG/MRI results may not be diagnostic in the early stages of sCJD. Familiarity with these caveats and with the most current criteria for diagnosing probable sCJD (University of California San Francisco 2007, MRI-CJD Consortium 2009 will enhance the ability to recognize sCJD and implement early safety measures.

  4. Doença de Creutzfeldt-Jakob: a propósito de um caso com comprometimento medular Creutzfeldt-Jakob disease: case report with spinal cord involvement

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    Marlos Fábio Alves de Azevedo

    2001-12-01

    Full Text Available A doença de Creutzfeldt-Jakob (DCJ é a encefalopatia espongiforme subaguda transmissível mais frequente nos seres humanos. Aproximadamente 85% dos casos pertencem à forma esporádica da doença. Os outros 15% consistem na forma genética e iatrogênica. Relatamos o caso de uma paciente com a forma esporádica da doença de Creutzfeldt-Jakob, com comprometimento medular e apresentação clínica caracterizada por síndrome demencial e cerebelar, miofasciculação com arreflexia difusa e crises convulsivas do tipo tônico-clônico generalizada. É rara a associação das duas últimas manifestações clínicas. O caso foi considerado como provável DCJ até confirmação por autópsia e imunohistoquímica. Concluímos que se deve sempre pensar na DCJ em pacientes que apresentam demência rapidamente progressiva e, na ausência de sinais piramidais ou extrapiramidais, pensar em acometimento periférico e/ou medular.Creutzfeldt-Jakob disease (CJD is the most common subacute transmissible spongiform encephalopathy. Approximately 85% of the cases are sporadic. The remaining 15% consist of genetic and iatrogenic forms. We report a sporadic form of CJD with spinal cord involvement and a clinical manifestation characterized by dementia and cerebellar syndrome, myofasciculation with absent reflexes and seizures. The two last manifestations are rare. The clinical hypothesis was probable CJD which was confirmed with autopsy and immunohistochemistry. We conclude that CJD should always be suspected when rapidly progressive dementia occurs and the absence of pyramidal or extrapyramidal signs suggest a spinal cord and/or peripheral nerve involvement.

  5. Diffusion-weighted imaging and magnetic resonance spectroscopy of sporadic Creutzfeldt-Jakob disease: correlation with clinical course

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    Kim, Jae Hyoung; Choi, Byung Se; Jung, Cheolkyu [Seoul National University Bundang Hospital, Department of Radiology, Seoul National University College of Medicine, Seongnam-si (Korea, Republic of); Chang, YoungHee; Kim, SangYun [Seoul National University Bundang Hospital, Department of Neurology, Seoul National University College of Medicine, Seongnam-si (Korea, Republic of)

    2011-12-15

    Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal disease with variable clinical courses. The presence or absence of basal ganglia (BG) involvement has been reported to be associated with clinical course. We investigated the association of clinical course of sCJD with diffusion-weighted imaging (DWI) and MR spectroscopy (MRS) as well as BG involvement at early stage. DWI and single voxel proton MRS were performed in 14 patients with sCJD during the initial diagnostic workup. Apparent diffusion coefficient (ADC) and metabolites were measured in medial occipitoparietal cortices where large hyperintense DWI lesions were found in all patients. The presence or absence of BG involvement, ADC, N-acetylaspartate (NAA)/creatine (Cr) ratios, and choline (Cho)/Cr ratios were correlated with disease duration (i.e., the time from the symptom onset to death). The disease duration ranged from 2 to 31 months (median, 16). Hyperintense DWI lesions were observed bilaterally in both cortices and basal ganglia in eight patients and in cortices alone in six patients. Patients with BG involvement had shorter disease duration (median, 6.8 versus 20.5; p = 0.039) than those without and lower NAA/Cr ratios (median, 1.41 versus 2.03; p = 0.001). ADC and Cho/Cr ratios were not significantly different between the patients with BG involvement and those without. By multiple regression analysis, NAA/Cr ratios had the greatest correlation with the disease duration (p = 0.029). The disease duration of sCJD was variable. NAA/Cr ratios of the affected brain at the early stage of sCJD can be used as a useful parameter in predicting the clinical course. (orig.)

  6. Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease

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    Banshi Lal Kumawat

    2015-01-01

    Full Text Available Sporadic Creutzfeldt-Jakob disease (sCJD can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness. Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD.

  7. Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease

    Science.gov (United States)

    Kumawat, Banshi Lal; Sharma, Chandra Mohan; Nath, Kunal; Acharya, Mihir; Khandelwal, Dinesh; Jain, Deepak

    2015-01-01

    Sporadic Creutzfeldt-Jakob disease (sCJD) can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness). Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD. PMID:25745324

  8. Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics

    NARCIS (Netherlands)

    Cali, I.; Castellani, R.; Alshekhlee, A.; Cohen, Y.; Blevins, J.; Yuan, J.; Langeveld, J.P.M.; Parchi, P.; Safar, J.G.; Zou, W.Q.; Gambetti, P.

    2009-01-01

    Five phenotypically distinct subtypes have been identified in sporadic Creutzfeldt-Jakob disease (sCJD), based on the methionine/valine polymorphic genotype of codon 129 of the prion protein (PrP) gene and the presence of either one of the two protease K-resistant scrapie prion protein (PrPSc) types

  9. Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification

    NARCIS (Netherlands)

    Parchi, P.; Strammiello, R.; Notari, S.; Giese, A.; Langeveld, J.P.M.; Ladogana, A.; Zerr, I.; Roncaroli, F.; Cras, P.; Ghetti, B.; Pocchiari, M.; Kretzschmar, H.; Capellari, S.

    2009-01-01

    Six subtypes of sporadic Creutzfeldt-Jakob disease with distinctive clinico-pathological features have been identified largely based on two types of the abnormal prion protein, PrPSc, and the methionine (M)/valine (V) polymorphic codon 129 of the prion protein. The existence of affected subjects sho

  10. New variant of Creutzfeldt-Jakob (vCJD disease and other human prion diseases under epidemiological surveillance in Brazil

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    Vera Lúcia Gattás

    Full Text Available Abstract To increase the timeliness of detection of human cases of the new variant of Creutzfeldt-Jakob disease (vCJD and to reduce the risk of transmission, the Brazilian Ministry of Health has established and standardized rules and control measures. These include the definition of criteria for suspect cases, reporting, monitoring, and control measures for illness prevention and transmission. Guidelines to be used by the team of health care staff were published and distributed to health workers. A detailed proposal for a simplified system of surveillance for prion diseases was developed and mandatory reporting introduced. Additional effort is necessary to increase vCJD case detection, thus making it necessary to establish a partnership with health care services for best identification of suspected cases and dissemination of information to all involved in the service dealing with vCJD investigation.

  11. Characterization of variant Creutzfeldt-Jakob disease prions in prion protein-humanized mice carrying distinct codon 129 genotypes.

    Science.gov (United States)

    Takeuchi, Atsuko; Kobayashi, Atsushi; Ironside, James W; Mohri, Shirou; Kitamoto, Tetsuyuki

    2013-07-26

    To date, all clinical variant Creutzfeldt-Jakob disease (vCJD) patients are homozygous for methionine at polymorphic codon 129 (129M/M) of the prion protein (PrP) gene. However, the appearance of asymptomatic secondary vCJD infection in individuals with a PRNP codon 129 genotype other than M/M and transmission studies using animal models have raised the concern that all humans might be susceptible to vCJD prions, especially via secondary infection. To reevaluate this possibility and to analyze in detail the transmission properties of vCJD prions to transgenic animals carrying distinct codon 129 genotype, we performed intracerebral inoculation of vCJD prions to humanized knock-in mice carrying all possible codon 129 genotypes (129M/M, 129M/V, or 129V/V). All humanized knock-in mouse lines were susceptible to vCJD infection, although the attack rate gradually decreased from 129M/M to 129M/V and to 129V/V. The amount of PrP deposition including florid/amyloid plaques in the brain also gradually decreased from 129M/M to 129M/V and to 129V/V. The biochemical properties of protease-resistant abnormal PrP in the brain and transmissibility of these humanized mouse-passaged vCJD prions upon subpassage into knock-in mice expressing bovine PrP were not affected by the codon 129 genotype. These results indicate that individuals with the 129V/V genotype may be more susceptible to secondary vCJD infection than expected and may lack the neuropathological characteristics observed in vCJD patients with the 129M/M genotype. Besides the molecular typing of protease-resistant PrP in the brain, transmission studies using knock-in mice carrying bovine PrP may aid the differential diagnosis of secondary vCJD infection, especially in individuals with the 129V/V genotype.

  12. Clinical analysis of early-stage misdiagnosis of Creutzfeldt-Jakob disease%克雅病早期误诊临床分析

    Institute of Scientific and Technical Information of China (English)

    吴杰贤; 梁颖茵; 姚晓黎

    2011-01-01

    目的 提高散发性克雅病临床诊断水平,降低其误诊率.方法 回顾性分析11例克雅病患者临床表现及早期误诊情况.结果 11例克雅病患者早期误诊为阿尔茨海默病4例,病毒性脑炎3例,脑梗死2例,路易体痴呆2例,脑脊液14-3-3蛋白阳性6例.结论 克雅病的早期临床表现极不典型,较易误诊;多次复查脑电图、磁共振弥散加权成像、脑脊液14-3-3蛋白是诊断本病的重要手段.%Objective To improve the clinical practical diagnosis of sporadic Creutzfeldt-Jakob disease and decrease the probability of misdiagnosis.Methods Clinical manifestations of 11 cases of Creutzfeldt-Jakob disease misdiagnosed in the early stage were reviewed.Results Eleven cases of Creutzfeldt-Jakob disease were misdiagnosed as Alzheimer' s disease (4 cases), viral encephalitis (3 cases),cerebral infarction (2 cases) and dementia with Lewy bodies (2 cases) in the early stage.Cerebrospinal fluid 14-3-3 protein was positive in 6 cases.Conclusions The clinical manifestations of Creutzfeldt- Jakob disease in the early stage are atypical and tend to be misdiagnosed;repetitive EEG,diffusion weighted imaging and cerebrospinal fluid 14-3-3 protein are essential to diagnosis.

  13. Doença de Creutzfeldt-Jakob: considerações clínicas, eletrencefalográficas e anatomopatológicas a propósito de uma caso Creutzfeldt-Jakob disease: a case report with clinical, electroencephalographic and neuropathological aspects

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    Wilson Luiz Sanvito

    1971-03-01

    Full Text Available É relatado um caso da doença de Creutzfeldt-Jakob cujo diagnóstico foi comprovado mediante estudo anátomo-patológico. São analisadas as diversas formas clínicas da doença e particular ênfase é dada aos aspectos eletrencefalográficos. No que respeita aos aspectos neuropatológicos é ressaltada a importância, para o diagnóstico, da presença de degeneração neuronal ao lado de hipertrofia da astroglia; o estado espongioso pode ocorrer em elevado número de casos. O paciente do presente registro, do sexo masculino, apresentou aos 52 anos de idade um quadro rapidamente evolutivo, caracterizado por instabilidade à marcha, mutismo, mioclonias generalizadas e coma vigil, vindo a falecer 5 meses após o início da doença. O estudo anátomo-patológico evidenciou lesões difusas nas regiões corticais, sub-corticais, no tronco do encéfalo e na medula espinhal, caracterizadas por degeneração neuronal, hipertrofia da astroglia e presença do estado espongioso.A case of peculiar form of Creutzfeldt-Jakob disease — the subacute disseminated encephalo-myelopathy one — is reported. The diagnosis was ascertained by necroscopic study. The clinical and electroencephalographic aspects are analysed. The patient here concerned, a man aged fifty two, during the clinical course of the disease showed stupor, decorticate posture, myoclonic jerks, epileptic seizures, muscular wasting in the left leg, exaggerated tendon reflexes in the face, tendon reflexes not elicitable in the legs. The electroencephalographic findings, during the downhill course of the disease, showed a pattern of irregularly depressed background rhythm with the periodic synchronous high voltage wave. The post-mortem findings revealed mild atrophy of the brain and the histological study revealed neuronal degeneration, astroglial hypertrophies and status spongiosus. The microscopic examination showed that the areas most affected were the frontal and occipital lobes, the basal

  14. Does Poor Dental Health Have a Role in the Emergence of Variant Creutzfeldt Jakob Disease in the United Kingdom?

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    Robert Burnie

    2011-05-01

    Full Text Available Introduction: Variant creutzfeldt jakob disease (vCJD is the hu-man neurological disease known to be caused by the same proteinaceous infectious agent (“prion” that causes Bovine Spongiform Encephalopathy or "Mad Cow Disease". Two un-usual and unexplained characteristics of the vCJD epidemic are its geographical distribution within the UK (about twice as frequent in Scotland and Northern England and its median age of onset of 26 years that has remained unchanged over the fifteen years of the epidemic.The hypothesis: Infection via the dental route as a consequence of poor dental health, most probably the presence of untreated decay may account for the geographical distribution of vCJD in the UK and offer an explanation for the constant median age of onset of the dis-ease by representing a fixed stage in development.Evaluation of the hypothesis: Analysis of existing data indicates that vCJD incidence by region and an index of dental health by region are positively correlated (r=0.737, p= 0.015. The hypothesis that infection via the dental route may explain the constant median age of onset and geographical distribution of vCJD could be investigated further with a case control study based on individual dental records and by further animal experiments to confirm the biological plausibility of this route.

  15. Stereotypic Movements in Case of Sporadic Creutzfeldt-Jakob Disease: Possible Role of Anti-NMDA Receptor Antibodies

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    Michelle Molina

    2012-12-01

    Full Text Available Sporadic Creutzfeldt-Jakob disease (sCJD and anti-NMDA receptor antibody encephalitis (NMDAE can both produce a rapidly progressive dementia with resulting state of catatonia or akinetic mutism. Both are associated with movement disorders. In published case series, myoclonus appears to be the most frequent movement disorder in sCJD, while stereotypic, synchronized, one-cycle-per-second movements such as arm or leg elevation, jaw opening, grimacing, head turning, and eye deviation are seen in NMDAE. We report a case of a 59-year-old woman with rapidly worsening cognitive disturbance leading to a nearly catatonic state interrupted by stereotypic movements. sCJD was diagnosed via periodic sharp wave complexes on EEG as well as cerebrospinal fluid (CSF 14-3-3 and tau protein elevation. Characteristic movement disorder of NMDAE was present in absence of ovarian mass or CSF pleiocytosis. Given prior case reports of presence of anti-NMDA receptor antibodies in sCJD, we propose that the movement disorder in this case was caused by anti-NMDA receptor antibodies whose formation was secondary to neuronal damage from prion disease. It is important to consider sCJD even in cases that have some clinical features suggestive of NMDAE.

  16. Sporadic Creutzfeldt-Jakob Disease: Prion Pathology in Medulla Oblongata—Possible Routes of Infection and Host Susceptibility

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    Diego Iacono

    2015-01-01

    Full Text Available Sporadic Creutzfeldt-Jakob disease (sCJD, the most frequent human prion disorder, is characterized by remarkable phenotypic variability, which is influenced by the conformation of the pathologic prion protein and the methionine/valine polymorphic codon 129 of the prion protein gene. While the etiology of sCJD remains unknown, it has been hypothesized that environmental exposure to prions might occur through conjunctival/mucosal contact, oral ingestion, inhalation, or simultaneous involvement of the olfactory and enteric systems. We studied 21 subjects with definite sCJD to assess neuropathological involvement of the dorsal motor nucleus of the vagus and other medullary nuclei and to evaluate possible associations with codon 129 genotype and prion protein conformation. The present data show that prion protein deposition was detected in medullary nuclei of distinct sCJD subtypes, either valine homozygous or heterozygous at codon 129. These findings suggest that an “environmental exposure” might occur, supporting the hypothesis that external sources of contamination could contribute to sCJD in susceptible hosts. Furthermore, these novel data could shed the light on possible causes of sCJD through a “triple match” hypothesis that identify environmental exposure, host genotype, and direct exposure of specific anatomical regions as possible pathogenetic factors.

  17. Deep Learning Representation from Electroencephalography of Early-Stage Creutzfeldt-Jakob Disease and Features for Differentiation from Rapidly Progressive Dementia.

    Science.gov (United States)

    Morabito, Francesco Carlo; Campolo, Maurizio; Mammone, Nadia; Versaci, Mario; Franceschetti, Silvana; Tagliavini, Fabrizio; Sofia, Vito; Fatuzzo, Daniela; Gambardella, Antonio; Labate, Angelo; Mumoli, Laura; Tripodi, Giovanbattista Gaspare; Gasparini, Sara; Cianci, Vittoria; Sueri, Chiara; Ferlazzo, Edoardo; Aguglia, Umberto

    2017-03-01

    A novel technique of quantitative EEG for differentiating patients with early-stage Creutzfeldt-Jakob disease (CJD) from other forms of rapidly progressive dementia (RPD) is proposed. The discrimination is based on the extraction of suitable features from the time-frequency representation of the EEG signals through continuous wavelet transform (CWT). An average measure of complexity of the EEG signal obtained by permutation entropy (PE) is also included. The dimensionality of the feature space is reduced through a multilayer processing system based on the recently emerged deep learning (DL) concept. The DL processor includes a stacked auto-encoder, trained by unsupervised learning techniques, and a classifier whose parameters are determined in a supervised way by associating the known category labels to the reduced vector of high-level features generated by the previous processing blocks. The supervised learning step is carried out by using either support vector machines (SVM) or multilayer neural networks (MLP-NN). A subset of EEG from patients suffering from Alzheimer's Disease (AD) and healthy controls (HC) is considered for differentiating CJD patients. When fine-tuning the parameters of the global processing system by a supervised learning procedure, the proposed system is able to achieve an average accuracy of 89%, an average sensitivity of 92%, and an average specificity of 89% in differentiating CJD from RPD. Similar results are obtained for CJD versus AD and CJD versus HC.

  18. Protease-sensitive conformers in broad spectrum of distinct PrPSc structures in sporadic Creutzfeldt-Jakob disease are indicator of progression rate.

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    Chae Kim

    2011-09-01

    Full Text Available The origin, range, and structure of prions causing the most common human prion disease, sporadic Creutzfeldt-Jakob disease (sCJD, are largely unknown. To investigate the molecular mechanism responsible for the broad phenotypic variability of sCJD, we analyzed the conformational characteristics of protease-sensitive and protease-resistant fractions of the pathogenic prion protein (PrP(Sc using novel conformational methods derived from a conformation-dependent immunoassay (CDI. In 46 brains of patients homozygous for polymorphisms in the PRNP gene and exhibiting either Type 1 or Type 2 western blot pattern of the PrP(Sc, we identified an extensive array of PrP(Sc structures that differ in protease sensitivity, display of critical domains, and conformational stability. Surprisingly, in sCJD cases homozygous for methionine or valine at codon 129 of the PRNP gene, the concentration and stability of protease-sensitive conformers of PrP(Sc correlated with progression rate of the disease. These data indicate that sCJD brains exhibit a wide spectrum of PrP(Sc structural states, and accordingly argue for a broad spectrum of prion strains coding for different phenotypes. The link between disease duration, levels, and stability of protease-sensitive conformers of PrP(Sc suggests that these conformers play an important role in the pathogenesis of sCJD.

  19. An autopsy case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting with pathological laughing and an exaggerated startle reaction.

    Science.gov (United States)

    Iwasaki, Yasushi; Mori, Keiko; Ito, Masumi; Akagi, Akio; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

    2017-07-13

    A 78-year-old Japanese woman presented with slow progressive disorientation and memory disturbances. Pathological laughing was observed at an early disease stage and continued for several months. Around the same time, the patient began to exhibit an exaggerated startle reaction and mild myoclonus. The pathological laughing and startle reaction disappeared before the patient reached an akinetic mutism state approximately 16 months after symptom onset. MRI showed extensive hyperintensity of the cerebral cortex and striatum on diffusion-weighted images, and swelling in the cerebral cortex on T2-weighted and fluid attenuated inversion recovery images. A prion protein (PrP) gene analysis revealed a V180I mutation with methionine homozygosity at codon 129. Neuropathological examination showed extensive spongiform changes with characteristic various-sized and non-confluent (VaSNoC) vacuoles in the cerebral neocortex and striatum. Gliosis and hypertrophic astrocytosis were generally mild in character. Neurons were relatively preserved in number. We believe that pathological laughing and an exaggerated startle reaction are possible pathognomonic findings of V180I genetic Creutzfeldt-Jakob disease. Based on the pathological findings of the present case, the presence of the VaSNoC-type spongiform changes with relative preservation of the neurons in the cerebral cortex and a lack of apparent brainstem involvement are associated at least in part with the pathological laughing and startle reaction. © 2017 Japanese Society of Neuropathology.

  20. Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Jeong, Byung-Hoon; Kim, Nam-Ho; Kim, Jae-Il; Carp, Richard I; Kim, Yong-Sun

    2005-01-01

    Association between sporadic Creutzfeldt-Jakob disease (CJD) and the prion-like protein gene (PRND) has been reported in the German population. To investigate whether the PRND polymorphisms are associated with an increased risk for developing sporadic CJD in the Korean population, we compared the genotype and allele frequencies of PRND polymorphisms in 110 sporadic CJD patients with those in 102 healthy Koreans. Two polymorphisms (P56L, T174 M) in Koreans were found in the open reading frame (ORF) of PRND. One heterozygote of P56L was observed in normal controls but not in sporadic CJD patients. A strong significant difference of PRND genotype frequency at codon 174 was found between the normal Korean population and various European populations. In contrast to results in the German population, our study did not show a significant difference in PRND genotype or allele frequency at codon 174 between sporadic CJD and normal controls. This was the first genetic association study of the ORF of PRND in an Asian CJD population.

  1. Cerebrospinal fluid real-time quaking-induced conversion is a robust and reliable test for sporadic creutzfeldt-jakob disease: An international study.

    Science.gov (United States)

    McGuire, Lynne I; Poleggi, Anna; Poggiolini, Ilaria; Suardi, Silvia; Grznarova, Katarina; Shi, Song; de Vil, Bart; Sarros, Shannon; Satoh, Katsuya; Cheng, Keding; Cramm, Maria; Fairfoul, Graham; Schmitz, Matthias; Zerr, Inga; Cras, Patrick; Equestre, Michele; Tagliavini, Fabrizio; Atarashi, Ryuichiro; Knox, David; Collins, Steven; Haïk, Stéphane; Parchi, Piero; Pocchiari, Maurizio; Green, Alison

    2016-07-01

    Real-time quaking-induced conversion (RT-QuIC) has been proposed as a sensitive diagnostic test for sporadic Creutzfeldt-Jakob disease; however, before this assay can be introduced into clinical practice, its reliability and reproducibility need to be demonstrated. Two international ring trials were undertaken in which a set of 25 cerebrospinal fluid samples were analyzed by a total of 11 different centers using a range of recombinant prion protein substrates and instrumentation. The results show almost complete concordance between the centers and demonstrate that RT-QuIC is a suitably reliable and robust technique for clinical practice. Ann Neurol 2016;80:160-165.

  2. Consumption of bovine spongiform encephalopathy (BSE) contaminated beef and the risk of variant Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Chen, Chu-Chih; Wang, Yin-Han; Wu, Kuen-Yuh

    2013-11-01

    To date, the variant Creutzfeldt-Jakob disease (vCJD) risk assessments that have been performed have primarily focused on predicting future vCJD cases in the United Kingdom, which underwent a bovine spongiform encephalopathy (BSE) epidemic between 1980 and 1996. Surveillance of potential BSE cases was also used to assess vCJD risk, especially in other BSE-prevalent EU countries. However, little is known about the vCJD risk for uninfected individuals who accidentally consume BSE-contaminated meat products in or imported from a country with prevalent BSE. In this article, taking into account the biological mechanism of abnormal prion PrP(res) aggregation in the brain, the probability of exposure, and the expected amount of ingested infectivity, we establish a stochastic mean exponential growth model of lifetime exposure through dietary intake. Given the findings that BSE agents behave similarly in humans and macaques, we obtained parameter estimates from experimental macaque data. We then estimated the accumulation of abnormal prions to assess lifetime risk of developing clinical signs of vCJD. Based on the observed number of vCJD cases and the estimated number of exposed individuals during the BSE epidemic period from 1980 to 1996 in the United Kingdom, an exposure threshold hypothesis is proposed. Given the age-specific risk of infection, the hypothesis explains the observations very well from an extreme-value distribution fitting of the estimated BSE infectivity exposure. The current BSE statistics in the United Kingdom are provided as an example.

  3. Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings; Doenca de Creutzfeldt-Jakob forma Heidenhain: relato de caso com achados de ressonancia magnetica e DWI

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    Arruda, Walter Oleschko; Bordignon, Kelly C.; Milano, Jeronimo B.; Ramina, Ricardo [Instituto de Neurologia de Curitiba, PR (Brazil)]. E-mail: warruda@speednet.com.br

    2004-06-01

    Creutzfeldt-Jakob disease (CJD) is a pre senile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few accentuates cases have been described in Brazil. A 54-year-old white woman, was admitted in our service with a month history of progressive, bilateral cortical blindness. After admission, she developed right partial motor seizures (right facial, upper and lower limbs), she became progressively aphasic (mixed aphasia). Seizures were controlled with phenytoine, but she developed choreoathetotic movements on her right dimidium, with partial control after introduction of chlorpromazine 25 mg q/d. She could no longer stand up or walk due to severe ataxia. The first EEG (October, 2001) showed left hemisphere severe seizure activity (status epilepticus partial is). She was delivered home with enteral nutrition, phenytoine, chlorpromazine and mepacrine 100 mg q d. The following laboratory tests were negative or normal: blood series, platelets, ESR, kidney and liver function, copper, ceruloplasmin, Vedril, HIV, HTLV-1, lactate, and cerebral Dsa (performed in other service). A spinal tap with normal opening pressure was perform and CSFR examination was normal. CSFR 14-3-3 protein was positive, CSF specific neuronal enolase 7.5 ng/ml(normal). Genetic study of PRNP gene did not disclosed any known mutation. A MRI (October, 2001) showed areas of hyperintense signal (T 2 and FLAIR) without Gd-enhancement on T1, in the left temporal lobe and in both occipital lobes; basal ganglia have a normal appearance. DWI imaging showed bright areas at the same sites. An EEG (March, 2002) disclosed a periodical sharp triphasic waves pattern, suggestive of CJD. A second MRI (April, 2002) showed mild generalized atrophy, no ventricular dilatation, and the hyperintense sites disappeared. She remained clinically stable and under use of chlorpromazine and mepacrine until she died due to pulmonary complications on April

  4. Study on clinical features in general paresis of insane, HIV-associated dementia and Creutzfeldt-Jakob disease behaved as dementia

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    LIU Wen-yan

    2012-06-01

    Full Text Available Objective To investigate the clinical features of general paresis of insane (GPI, HIV-associated dementia (HAD and Creutzfeldt -Jakob disease (CJD. Methods The clinical features, laboratory examination, electroencephalography (EEG, magnetic resonance imaging (MRI, treatment and prognosis of 19 patients (GPI, n = 8; HAD, n = 6; CJD, n = 5 were analyzed retrospectively. Results The cases of three groups had cognitive impairment. At the same time, multiple systems (pyramidal system, extrapyramidal system and cerebellar and multiple cranial nerves were involved. In GPI patients, the results of rapid plasma regain circle card test (RPR and treponema pallidum particle agglutination assay (TPPA were all positive in 8 cases, venereal disease research laboratory tests (VDRL of CSF were positive in 4 cases, and Head MRI showed encephalatrophy in 6 cases. In HAD patients, serologic tests for HIV of all cases were positive, the average protein of CSF was increased significantly and Pandy's test was positive in 2 cases, Head MRI were characterized with multiple space occupying lesions or diffuse abnormal density image. In CJD patients, CSF 14-3-3 protein showed positive in 4 patients, EEG showed diffuse slow waves in 5 case, in which 1 case showed typical periodic triphasic wave, Head MRI in 3 sporadic CJD patients (sCJD showed swelling like changes in sulus of cortex area and 1 varaint CJD (vCJD patient showed hockey like change in thalamencephalon. Conclusion The clinical characteristics of dementia caused by GPI, HAD or CJD are varied, and the diagnosis mainly depends on clinical features, positive findings in serum, CSF, EEG and MRI detections.

  5. The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD

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    Jeong Byung-Hoon

    2011-08-01

    Full Text Available Abstract Background Although polymorphisms of PRNP, the gene encoding prion protein, are known as a determinant affecting prion disease susceptibility, other genes also influence prion incubation time. This finding offers the opportunity to identify other genetic or environmental factor (s modulating susceptibility to prion disease. Ribosomal protein SA (RPSA, also called 37 kDa laminin receptor precursor (LRP/67 kDa laminin receptor (LR, acts as a receptor for laminin, viruses and prion proteins. The binding/internalization of prion protein is dependent for LRP/LR. Methods To identify other susceptibility genes involved in prion disease, we performed genetic analysis of RPSA. For this case-control study, we included 180 sporadic Creutzfeldt-Jakob disease (CJD patients and 189 healthy Koreans. We investigated genotype and allele frequencies of polymorphism on RPSA by direct sequencing or restriction fragment length polymorphism (RFLP analysis. Results We observed four single nucleotide polymorphisms (SNPs, including -8T>C (rs1803893 in the 5'-untranslated region (UTR of exon 2, 134-32C>T (rs3772138 in the intron, 519G>A (rs2269350 in the intron and 793+58C>T (rs2723 in the intron on the RPSA. The 519G>A (at codon 173 is located in the direct PrP binding site. The genotypes and allele frequencies of the RPSA polymorphisms showed no significant differences between the controls and sporadic CJD patients. Conclusion These results suggest that these RPSA polymorphisms have no direct influence on the susceptibility to sporadic CJD. This was the first genetic association study of the polymorphisms of RPSA gene with sporadic CJD.

  6. Enfermedad de Creutzfeldt-Jakob por RMI: alteración cortical como signo temprano de la enfermedad Creutzfeldt-Jakob disease by MRI: Cortical alteration as early sign disease

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    María Fernanda Markarian; Adriana Ojeda; Ana María Uriarte

    2008-01-01

    Se estudió por RMI un paciente de 59 años con diagnóstico probable de Enfermedad de Creutzfeldt-Jakob desde el inicio de sus síntomas. El paciente comienza con un cuadro de leve deterioro cognitivo. En una primera resonancia en secuencias FLAIR se visualiza hiperintensidad cortical a predomino de hemisferio izquierdo, no observándose en FSE T 2. Se hace más significativa en nueva resonancia en FLAIR y Difusión, con aparición de hiperintensidad en cabeza de ambos caudados y rápido deterioro co...

  7. Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene.

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    Maurizio Pocchiari

    Full Text Available BACKGROUND: The E200K mutation of the prion protein gene (PRNP is the most frequent amino acid substitution in genetic Creutzfeldt-Jakob disease and is the only one responsible for the appearance of clustered cases in the world. In the Israel and Slovakian clusters, age of disease onset was reduced in successive generations but the absence of a clear molecular basis raised the possibility that this event was an observational bias. The aim of the present study was to investigate possible selection biases or confounding factors related to anticipation in E200K CJD patients belonging to a cluster in Southern Italy. METHODS: Clinical and demographical data of 41 parent-offspring pairs from 19 pedigrees of the Italian cluster of E200K patients were collected. Age at death of parents was compared with age at death of E200K CJD offspring. Subgroup analyses were performed for controlling possible selection biases, confounding factors, or both. RESULTS: The mean age at death/last follow-up of the parent generation was 71.4 years while that of CJD offspring was 59.3 years with an estimated anticipation of 12.1 years. When the same analysis was performed including only parents with CJD or carrying the E200K mutation (n = 26, the difference between offspring and parents increased to 14.8 years. CONCLUSIONS: These results show that early age at death occurs in offspring of families carrying the E200K PRNP mutation and that this event is not linked to observational biases. Although molecular or environmental bases for this occurrence remain unsettled, this information is important for improving the accuracy of information to give to mutated carriers.

  8. Sporadic Creutzfeldt-Jakob disease: a clinico-neuropathological analysis of nine definite cases Doença de Creutzfeldt-Jakob do tipo esporádico: análise clínico-neuropatológica de nove casos da forma definida

    Directory of Open Access Journals (Sweden)

    CARLOS M. DE CASTRO COSTA

    1998-09-01

    Full Text Available The authors have analyzed clinico-neuropathologically nine cases of the definite sporadic form of Creutzfeldt-Jakob disease (CJD. All cases were female, with mean age of 62.7 years. Eighty-nine percent of the patients exhibited prodromal and initial psychiatric symptoms; definite signs of dementia, and myoclonus were present in 100% of cases. The EEG was abnormal in all cases and pseudoperiodic paroxysms were present in 56% of the patients. Their evolution time ranged from 3 to 19 months. Neuropathologically, brain and cerebellar atrophy, spongiosis, astrocytosis and neuronal loss were present in 100% of the patients. In 5 (56% of these 9 cases, prion protein (PrP amyloid plaques were detected in the cerebellum, by optical- and electronmicroscopy. There was a positive correlation between the number of plaques and the evolution time. The authors outline the similarities of their cases in the elderly with the new variant of CJD described in young people.Os autores analisaram, do ponto de vista clínico e neuropatológico, nove casos da forma esporádica definida da doença de Creutzfeldt-Jakob (DCJ. Todos eles eram mulheres, com idade média de 62,7 anos. Oitenta e nove por cento dos pacientes exibiram sintomas psiquiátricos prodrômicos e iniciais; sinais típicos de demência e mioclonias estavam presentes em 100% deles. O EEG foi anormal em todos os casos e apresentou paroxismos pseudoperiódicos em 56% dos pacientes. O tempo de evolução da doença variou de 3 a 19 meses. Do ponto de vista neuropatológico, atrofia cerebral e cerebelar, espongiose, astrocitose e perda neuronal estavam presentes em 100% dos pacientes. Em 5 (56% dos 9 casos, foi evidenciada, por microscopia óptica e eletrônica, a presença de placas amilóides de proteína prion (PrP no cerebelo. Havia correlação positiva entre o número de placas e o tempo de evolução da doença. Os autores salientam as semelhanças desses seus casos de pacientes idosos com a nova

  9. Genetic and Transcriptomic Profiles of Inflammation in Neurodegenerative Diseases: Alzheimer, Parkinson, Creutzfeldt-Jakob and Tauopathies

    National Research Council Canada - National Science Library

    López González, Irene; Garcia-Esparcia, Paula; Llorens, Franc; Ferrer, Isidre

    2016-01-01

    Polymorphisms in certain inflammatory-related genes have been identified as putative differential risk factors of neurodegenerative diseases with abnormal protein aggregates, such as sporadic Alzheimer's disease (AD...

  10. Doença de Creutzfeldt-Jakob forma Heidenhain: relato de caso com achados de ressonância magnética e DWI Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI findings

    Directory of Open Access Journals (Sweden)

    Walter Oleschko Arruda

    2004-06-01

    Full Text Available A doença de Creutzfeldt-Jakob (CJD é uma forma de demência pré-senil de rápida evolução, geralmente fatal em um ano. Casos autóctones no Brasil têm sido raramente descritos assim como achados de ressonância magnética. Mulher, natural de Ponta Grossa PR, branca , 54 anos , foi admitida no serviço em outubro de 2001 com quadro de amaurose bilateral cortical progressiva desde há 1 mês do internamento. Nunca viajou ao exterior e foi somente submetida a uma cirurgia de redução do estômago, para obesidade. História familial sem relato de casos semelhantes. Logo após o internamento a paciente desenvolveu quadro de disfasia mista, hemiparesia flácida direita, com movimentos coreoatetóticos e crises parciais motoras. Paciente evoluiu com quadro demencial progressivo; atualmente, acamada, torporosa, dependente de alimentação enteral, recebendo mepacrina, fenitoína e clorpromazina , estabilizando o quadro até final de maio de 2002. Exames laboratoriais negativos ou normais. Pesquisa de proteína 14-3-3 no líquor foi positiva; enolase-neurônio-específica no líquor foi normal. Estudo genético do gen PRNP não revelou mutação descrita anteriormente. EEG (23/10/2001 revelou intensa atividade irritativa hemisfério cerebral esquerdo. Estudo de ressonância magnética revelou áreas de hipersinal em T2 e FLAIR em regiões temporal esquerda e bioccipital; gânglios da base normal. Imagens de DWI mostraram hipersinal nas mesmas áreas.Outro EEG (15/03/2002 revelou padrão periódico de ondas trifásicas sugestivos de CJD. A paciente fez uso de mepacrina associado a clorpromazina com aparente estabilização do quadro, até seu óbito por complicações infecciosas pulmonares em abril de 2003.Creutzfeldt-Jakob disease (CJD is a presenile dementia characterized by rapidly progressive mental deterioration, myoclonic jerking, and other less common neurological signs. Few autoctonous cases have been described in Brazil. A 54-year

  11. Creutzfeldt-Jakob Disease with Mixed Transcortical Aphasia: Insights into Echolalia

    National Research Council Canada - National Science Library

    S. E. McPherson; J. D. Kuratani; J. L. Cummings; J. Shih; P. S. Mischel; H. V. Vinters

    1994-01-01

    .... The patient ultimately evidenced mixed transcortical aphasia (MTA) with echolalia. Disruption of frontal-subcortical circuits with environmental dependency accounts for the symptoms in MTA, including intact repetition and echolalia...

  12. Creutzfeldt-Jakob disease with mixed transcortical aphasia: insights into echolalia

    National Research Council Canada - National Science Library

    McPherson, S E; Kuratani, J D; Cummings, J L; Shih, J; Mischel, P S; Vinters, H V

    1994-01-01

    .... The patient ultimately evidenced mixed transcortical aphasia (MTA) with echolalia. Disruption of frontal-subcortical circuits with environmental dependency accounts for the symptoms in MTA, including intact repetition and echolalia...

  13. Unusual resistance to ionizing radiation of the viruses of kuru, Creutzfeldt-Jakob disease, and scrapie.

    Science.gov (United States)

    Gibbs, C J; Gajdusek, D C; Latarjet, R

    1978-01-01

    The titers of several preparations of kuru. Creutzfeldt-Jacob disease, and scrapie viruses were reduced by only 1/10th or less by high doses of gamma radiation of 50 kGy and by only 1/10th-1/1000th or less for 200 kGy. This unusual radiation resistance of the two human viruses further links them with the scrapie virus and suggests that the genetic information of all three viruses is considerably smaller than that of any other known viruses of mammals. PMID:104301

  14. Subtype and regional-specific neuroinflammation in sporadic Creutzfeldt-Jakob disease

    Directory of Open Access Journals (Sweden)

    Franc eLlorens

    2014-08-01

    Full Text Available The present study identifies deregulated cytokines and mediators of the immune response in the frontal cortex and cerebellum of sCJD MM1 and VV2 subtypes compared to age-matched controls. Deregulated genes include pro- and anti-inflammatory cytokines, toll-like receptors, colony stimulating factors, cathepsins, members of the complement system, and members of the integrin and CTL/CTLD family with particular regional and sCJD subtype patterns. Analysis of cytokines and mediators at protein level shows expression of selected molecules and receptors in neurons and/or in astrocytes and/or in microglia thus suggesting interactions between neurons and glial cells, mainly microglia, in the neuroinflammatory response in sCJD. Similar inflammatory responses have been shown in the tg340 sCJD MM1 mice, revealing a progressive deregulation of inflammatory mediators with disease progression. Yet inflammatory molecules involved are subjected to species differences in humans and mice. Moreover, inflammatory-related cell signalling pathways NFκB/IKK and JAK/STAT are activated in sCJD and sCJD MM1 mice. Together, the present observations show a self-sustained complex inflammatory and inflammatory-related responses occurring already at early clinical stages in animal model and dramatically progressing at advanced stages of sCJD. Considering this scenario, measures tailored to modulate (activate or inhibit specific molecules could be therapeutic options in CJD.

  15. Cleanability of dental instruments--implications of residual protein and risks from Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Walker, J T; Dickinson, J; Sutton, J M; Raven, N D H; Marsh, P D

    2007-10-13

    Cleaning of dental instruments is the first line of control in reducing the adherent bioburden. The threat of vCJD and the difficulty in removing prion protein has provided a new challenge for cleaning surgical and dental instruments. Prion proteins are also more resistant to many disinfection and sterilisation techniques. A number of different methods are currently available in primary care for cleaning instruments including manual washing, ultrasonic cleaners and washer disinfectors. Manual cleaning of dental instruments is time-consuming, introduces operator error and the risk of puncture wounds, is not reproducible and does not completely remove debris from instruments. Ultrasonic baths are significantly more effective than hand cleaning alone and are currently used by the majority of dental surgeries (often as an adjunct to manual cleaning). Automated washer-disinfectors appear to provide a validated, reliable and reproducible procedure for disinfection and sterilisation of dental instruments to ensure both the safety of patients and dental staff. Dental instruments that are difficult to clean are frequently contaminated with tissue debris after routine reprocessing and cannot be excluded as a potential transmission risk for infectious agents, including prions. The transmission of vCJD via dentistry is considered to be low risk, however, the Department of Health (DoH) has recently advised dentists to ensure that endodontic reamers and files are treated as single-use as a precautionary basis in order to further reduce any risk of vCJD transmission.

  16. Creutzfeldt-Jakob Disease

    Science.gov (United States)

    ... newsletter Stay up-to-date on the latest advances in Alzheimer's and dementia treatments, care and research. Subscribe now ... up-to-date on the latest news and advances in Alzheimer's treatments, care and research. Get tips for living ...

  17. Doença de Creutzfeldt-Jakob forma Heidenhain: relato de caso com achados de ressonância magnética e DWI Creutzfeldt-Jakob disease, Heidenhain variant: case report with MRI (DWI) findings

    OpenAIRE

    Walter Oleschko Arruda; Kelly C. Bordignon; Jerônimo B. Milano; Ricardo Ramina

    2004-01-01

    A doença de Creutzfeldt-Jakob (CJD) é uma forma de demência pré-senil de rápida evolução, geralmente fatal em um ano. Casos autóctones no Brasil têm sido raramente descritos assim como achados de ressonância magnética. Mulher, natural de Ponta Grossa PR, branca , 54 anos , foi admitida no serviço em outubro de 2001 com quadro de amaurose bilateral cortical progressiva desde há 1 mês do internamento. Nunca viajou ao exterior e foi somente submetida a uma cirurgia de redução do estômago, para o...

  18. Follow-up of a pedigree of familial Creutzfeldt-Jakob disease%遗传性CJD一家系随访分析

    Institute of Scientific and Technical Information of China (English)

    刘峥; 叶静; 李存江; 贾建平

    2011-01-01

    Objective To detect the PRNP gene mutations in a pedigree of familial Creutzfeldt- Jakob disease and evaluate the mutation rate of PRNP gene and the phenotype of the affected members. Methods The study group consisted of 28 members of a familial dementia pedigree and 310 healthy subjects. Genomic DNA was extracted from peripheral blood leucocytes of all subjects followed by in vitro amplification using polymerase chain reaction ( PCR ). The PCR products were directly sequenced by Sanger method. Result We detected missense mutations of PRNP gene in 15 family members, in which 3 were patients and 12 were healthy carriers, resulting in G114V mutation in the prion protein. A new patient demonstrated progressive dementia, myoclonus and Parkinsonism, whose cerebral MRI showed mild atrophy of left temporal lobe. EEG of the new patient indicated periodic sharp wave complexes ( PSWCs ). Conclusion Patients in this pedigree demonstrate the phenotype of CJD. The pedigree is autosomal dominant with incomplete penetrance.%目的 随访一个遗传性朊蛋白病的家系,对全部家系成员进行朊蛋白基因(PRNP)突变的筛查,探讨患病者的表型和突变发生率.方法 研究对象包括28例家系成员和310例健康对照.对研究对象的PRNP基因的开放阅读框架进行PCR扩增,产物直接测序,异常者重复测序,并与对照组对比.收集新发病例的影像和神经电生理资料.结果 共发现15例G114V基因突变者,其中3例发病,12例为携带者.1例新发病的患者表现为进行性痴呆、肌阵挛、帕金森综合征,头颅MRI示左侧颞叶轻度萎缩,脑电图有典型的周期性放电.结论 本家系为常染色体显性遗传的家族性CJD,新发病例的出现进一步明确了这一表型诊断,部分携带者不发病提示存在不完全外显.

  19. 中国2010年克-雅病监测病例特征分析%Surveillance of Creutzfeldt-Jakob disease in China,2010

    Institute of Scientific and Technical Information of China (English)

    陈操; 石琦; 周伟; 张宝云; 高晨; 田婵; 韩俊; 董小平

    2011-01-01

    Objective To understand the incidence, epidemiological and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in China. Methods The analysis was conducted on the clinical and epidemiological data of suspected CJD cases collected through the surveillance in China in 2010. Cerebrospinal fluid (CSF) and blood samples were taken from the patients to detect PrPSc in brain tissue and 14-3-3 protein in CSF by using Western blot assay and analyze the polymorphism of 129 amino acid and mutation of PRNP gene extracted from blood samples by using PCR and sequencing assay. Results Totally 1 laboratory confirmed cases, 46 clinical diagnosed and 25 suspected cases of CJD, 3 fatal familial insomnia cases (FFI) and 5 genetic CJD cases were detected, including 1 R208H, 1 P102L and 3 T188K mutation cases No seasonal, geographic and population clustering of the disease were observed. The mean age of clinical diagnosed patients was 62 years old, the male to female ratio was 1. 30:1, the mean age of suspected patients was 57 years old, the male to female ratio was 2. 14: 1. Rapidly progressive dementia was the mostly common symptom, occurring firstly in 54. 93% of the CJD patients. More typical clinical manifestations were presented in clinical diagnosed patients than in suspected patients. Conclusion CJD occurred sporadically in China in 2010, which was demonstrated by the time, geographic, population, gender and age distributions of the cases.%目的 了解中国(未包括香港、澳门和台湾地区,下同)克-雅病(Creutzfeldt-Jakob disease,CJD)的发病情况、流行病学及临床特征.方法 对2010年中国CJD监测网络获得的可疑CJD病例的临床及流行病学资料进行分析,收集患者脑脊液及血液样品,利用Western blot方法检测脑组织中PrPSc蛋白及脑脊液中14 -3 -3蛋白,提取全血基因组DNA并利用PCR及测序方法对PRNP基因进行129位多态性及基因突变的分析.结果 共发现散发型CJD确定诊断病例1

  20. Variant Creutzfeldt-Jakob Disease-Human Manifestation of Bovine Spongiform Encephalopathy%新型克-雅氏病是人的牛海绵状脑病

    Institute of Scientific and Technical Information of China (English)

    方元

    2001-01-01

    本文在概述人朊病毒的基础上,重点阐述新型克-雅氏病与早先已知的各种人朊病毒病的区别和它是由牛海绵状脑病朊病毒引起的证据,并对牛海绵状脑病并非源于痒病而是原于牛散发性朊病毒病、影响新型克-雅氏病流行规模的主要因素和该病的主要预防措施等问题进行了讨论。%Variant Creutzfeldt-Jakob disease (vCJD) is a new disease firstly described in April, 1996 in the United Kingdom. On the basis of a brief account of human prion diseases, this paper elucidates the differences between vCJD and bovine spongiform encephalopathy (BSE) and presents the evidence conforming that vCJD is caused by the BSE agent. In addition, the origin of BSE (it was not derived from scrapie), some important factors determining epidemic scale of vCJD and key preventive measures of vCJD are discussed.

  1. Human variant Creutzfeldt-Jakob disease and sheep scrapie PrP(res) detection using seeded conversion of recombinant prion protein.

    Science.gov (United States)

    Orrú, Christina D; Wilham, Jason M; Hughson, Andrew G; Raymond, Lynne D; McNally, Kristin L; Bossers, Alex; Ligios, Ciriaco; Caughey, Byron

    2009-08-01

    The pathological isoform of the prion protein (PrP(res)) can serve as a marker for prion diseases, but more practical tests are needed for preclinical diagnosis and sensitive detection of many prion infections. Previously we showed that the quaking-induced conversion (QuIC) assay can detect sub-femtogram levels of PrP(res) in scrapie-infected hamster brain tissue and distinguish cerebral spinal fluid (CSF) samples from normal and scrapie-infected hamsters. We now report the adaptation of the QuIC reaction to prion diseases of medical and agricultural interest: human variant Creutzfeldt-Jakob disease (vCJD) and sheep scrapie. PrP(res)-positive and -negative brain homogenates from humans and sheep were discriminated within 1-2 days with a sensitivity of 10-100 fg PrP(res). More importantly, in as little as 22 h we were able to distinguish CSF samples from scrapie-infected and uninfected sheep. These results suggest the presence of prions in CSF from scrapie-infected sheep. This new method enables the relatively rapid and sensitive detection of human CJD and sheep scrapie PrP(res) and may facilitate the development of practical preclinical diagnostic and high-throughput interference tests.

  2. Analyses of the similarity and difference of global gene expression profiles in cortex regions of three neurodegenerative diseases: sporadic Creutzfeldt-Jakob disease (sCJD), fatal familial insomnia (FFI), and Alzheimer's disease (AD).

    Science.gov (United States)

    Tian, Chan; Liu, Di; Xiang, Wei; Kretzschmar, Hans A; Sun, Qing-Lan; Gao, Chen; Xu, Yin; Wang, Hui; Fan, Xue-Yu; Meng, Ge; Li, Wei; Dong, Xiao-Ping

    2014-10-01

    Neurodegenerative disease is a general designation for the disorders that are progressive loss of structure or function and final death of neurons, including Alzheimer's, Parkinson's, Huntington's, prion diseases, etc. In this study, we comparatively analyzed 21 individual microarray data sets of the cortex tissues from 11 sporadic Creutzfeldt-Jakob disease (sCJD), 3 fatal familial insomnia (FFI), 3 Alzheimer's disease (AD), and 4 normal controls. After normalization, a collection of 730 differently expressed sets (DESets) were obtained by comparison of the data of three diseases with their original controls. Principal component analysis (PCA) showed a background-related distribution within the groups of FFI, AD, and normal control, but two apparently different subgroups within the group of sCJD were observed. Review of the clinical materials of 11 sCJD patients identified the difference in brain PrP(Sc) deposits between two subgroups. Hierarchical cluster analysis illustrated the relatively independent clusters of normal controls, FFIs, six sCJD cases (subgroup 1) with more PrP(Sc) deposits, respectively, while an overlapped cluster of five cases of sCJD2 (subgroup 2) with less PrP(Sc) deposits and AD patients. Despite of the presence of special gene expressions, many common features were found among those neurodegenerative diseases. The most commonly changed biological processes (BPs) were signal transduction, synaptic transmission, and neuropeptide signaling pathway. The most commonly changed pathways were MAPK signaling pathway, Parkinson's disease, and oxidative phosphorylation. Our data here provide the similarity and difference in global gene expressions among the patients with sCJD, FFI, and AD, which may help to understand the common mechanism of neurodegenerative diseases.

  3. Creutzfeldt-Jakob disease a case report, with special attention to the electroencephalogram in this disorder and to its possible relationships to kuru, scrapie and «mad cow disease»

    Directory of Open Access Journals (Sweden)

    A.H. Chapman

    1993-06-01

    Full Text Available A case of Creutzfeldt-Jakob disease in a 58-year-old Brazillian cattle rancher and businessman is presented. The EEG was normal, which is consistent with the fact that it was made during the first half of his illness; in a later stage suppression of normal rhythms by slow moderate voltage waves would be expected. The resemblances of kuru, scrapie and "mad cow disease» to C-J disease are discussed. In each of these 4 illnesses the patient or affected animal (scrapie and «mad cow disease" (a has a widespread spongiform encephalopathy and consequent dementia, myoclonic epilepsy and cerebellar and corticospinal symptoms, (b Each illness is caused by a virus (or virus-like organism called a PrP or prion which is unusually resistant to heat and entirely resistant to ultraviolet light and x-rays, (c This causative agent can be transmitted to other mammals by intracerebral injection or, in the proved cases of 3 of them, by the oral route. Unresolved questions about C-J disease include the following: Are C-J disease, kuru, scrapie and "mad cow disease" essentially similar illnesses caused by the same virus or by subtle variants of it? What is the incubation period of C-J disease, and does its virus exist for long periods of time in some asymptomatic persons, some of whom may never become neurologically ill? How does this virus enter the bodies of most persons with C-J disease, and why does the clinical disease characteristically occur only in middle age?

  4. Comparison of the neuropathological characteristics of bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (vCJD) in mice.

    Science.gov (United States)

    Brown, D A; Bruce, M E; Fraser, J R

    2003-06-01

    Bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (vCJD) belong to a group of diseases called the transmissible spongiform encephalopathies (TSEs). Transmission studies in inbred mice (strain typing) provided overwhelming evidence that vCJD arose from BSE. In this study, we compare the patterns of neuropathology in a panel of three inbred mouse strains (RIII, C57BL and VM) and one cross (C57BL x VM) infected with either vCJD or BSE. For each mouse strain, patterns of abnormal prion protein (PrPres) deposition, astrocytosis and vacuolation were similar in the vCJD- and BSE-challenged mice. Prion protein (PrP)-positive plaques were prominent in the VM and C57BL x VM mice in addition to diffuse PrPres accumulation, whereas only diffuse PrPres labelling was observed in the RIII and C57BL mice. The hippocampus was targeted in all mouse strains, as was the cochlear nucleus in the medulla, both showing consistent severe vacuolation and heavy PrPres deposition. Although the targeting of PrPres was similar in the BSE- and vCJD-infected brains, the amount and intensity of PrPres observed in the brains treated with formic acid during fixation was reduced considerably. The distribution of astrocytosis was similar to the targeting of PrPres deposition in the brain, although some differences were observed in the hippocampi of mice challenged with vCJD. We conclude that there are no significant differences in the targeting of neuropathological changes observed in the BSE- and vCJD-infected mice, consistent with the previous evidence of a link between BSE and vCJD.

  5. Is brain copper deficiency in Alzheimer's, Lewy body, and Creutzfeldt Jakob diseases the common key for a free radical mechanism and oxidative stress-induced damage?

    Science.gov (United States)

    Deloncle, Roger; Guillard, Olivier

    2015-01-01

    In Alzheimer's (AD), Lewy body (LBD), and Creutzfeldt Jakob (CJD) diseases, similar pathological hallmarks have been described, one of which is brain deposition of abnormal protease-resistant proteins. For these pathologies, copper bound to proteins is able to protect against free radicals by reduction from cupric Cu++ to cupreous Cu+. We have previously demonstrated in bovine brain homogenate that free radicals produce proteinase K-resistant prion after manganese is substituted for copper. Since low brain copper levels have been described in transmissible spongiform encephalopathies, in substantia nigra in Parkinson's disease, and in various brain regions in AD, LBD, and CJD, a mechanism has been proposed that may underlie the neurodegenerative processes that occur when copper protection against free radicals is impaired. In peptide sequences, the alpha acid proton near the peptide bond is highly mobile and can be pulled out by free radicals. It will produce a trivalent α-carbon radical and induce a free radical chain process that will generate a D-amino acid configuration in the peptide sequence. Since only L-amino acids are physiologically present in mammalian (human) proteins, it may be supposed that only physiological L-peptides can be recycled by physiological enzymes such as proteases. If a D-amino acid is found in the peptide sequence subsequent to deficient copper protection against free radicals, it will not be recognized and might alter the proteasome L-amino acid recycling from brain peptides. In the brain, there will result an accumulation of abnormal protease-resistant proteins such as those observed in AD, LBD, and CJD.

  6. Rapid and Highly Sensitive Detection of Variant Creutzfeldt-Jakob Disease Abnormal Prion Protein on Steel Surfaces by Protein Misfolding Cyclic Amplification: Application to Prion Decontamination Studies.

    Directory of Open Access Journals (Sweden)

    Maxime Belondrade

    Full Text Available The prevalence of variant Creutzfeldt-Jakob disease (vCJD in the population remains uncertain, although it has been estimated that 1 in 2000 people in the United Kingdom are positive for abnormal prion protein (PrPTSE by a recent survey of archived appendix tissues. The prominent lymphotropism of vCJD prions raises the possibility that some surgical procedures may be at risk of iatrogenic vCJD transmission in healthcare facilities. It is therefore vital that decontamination procedures applied to medical devices before their reprocessing are thoroughly validated. A current limitation is the lack of a rapid model permissive to human prions. Here, we developed a prion detection assay based on protein misfolding cyclic amplification (PMCA technology combined with stainless-steel wire surfaces as carriers of prions (Surf-PMCA. This assay allowed the specific detection of minute quantities (10-8 brain dilution of either human vCJD or ovine scrapie PrPTSE adsorbed onto a single steel wire, within a two week timeframe. Using Surf-PMCA we evaluated the performance of several reference and commercially available prion-specific decontamination procedures. Surprisingly, we found the efficiency of several marketed reagents to remove human vCJD PrPTSE was lower than expected. Overall, our results demonstrate that Surf-PMCA can be used as a rapid and ultrasensitive assay for the detection of human vCJD PrPTSE adsorbed onto a metallic surface, therefore facilitating the development and validation of decontamination procedures against human prions.

  7. Rapid and Highly Sensitive Detection of Variant Creutzfeldt-Jakob Disease Abnormal Prion Protein on Steel Surfaces by Protein Misfolding Cyclic Amplification: Application to Prion Decontamination Studies.

    Science.gov (United States)

    Belondrade, Maxime; Nicot, Simon; Béringue, Vincent; Coste, Joliette; Lehmann, Sylvain; Bougard, Daisy

    2016-01-01

    The prevalence of variant Creutzfeldt-Jakob disease (vCJD) in the population remains uncertain, although it has been estimated that 1 in 2000 people in the United Kingdom are positive for abnormal prion protein (PrPTSE) by a recent survey of archived appendix tissues. The prominent lymphotropism of vCJD prions raises the possibility that some surgical procedures may be at risk of iatrogenic vCJD transmission in healthcare facilities. It is therefore vital that decontamination procedures applied to medical devices before their reprocessing are thoroughly validated. A current limitation is the lack of a rapid model permissive to human prions. Here, we developed a prion detection assay based on protein misfolding cyclic amplification (PMCA) technology combined with stainless-steel wire surfaces as carriers of prions (Surf-PMCA). This assay allowed the specific detection of minute quantities (10-8 brain dilution) of either human vCJD or ovine scrapie PrPTSE adsorbed onto a single steel wire, within a two week timeframe. Using Surf-PMCA we evaluated the performance of several reference and commercially available prion-specific decontamination procedures. Surprisingly, we found the efficiency of several marketed reagents to remove human vCJD PrPTSE was lower than expected. Overall, our results demonstrate that Surf-PMCA can be used as a rapid and ultrasensitive assay for the detection of human vCJD PrPTSE adsorbed onto a metallic surface, therefore facilitating the development and validation of decontamination procedures against human prions.

  8. Asymmetric cortical high signal on diffusion weighted-MRI in a case of Creutzfeldt-Jakob disease Hipersinal cortical assimétrico na ressonância magnética na imagem em difusão em caso de doença de Creutzfeldt-Jakob

    Directory of Open Access Journals (Sweden)

    Ricardo Nitrini

    2005-06-01

    Full Text Available High signal in the cerebral cortex and/or basal ganglia on diffusion-weighted magnetic resonance imaging (DW-MRI has been described as a good diagnostic marker for sporadic Creutzfeldt-Jakob disease (sCJD. We report a case of sCJD with atypical clinical evolution and unusual DW-MRI findings. A 53-year-old man was seen with a 2-year history of a rapidly progressive dementia and cerebellar ataxia. Cerebrospinal fluid analysis, including the test for 14-3-3 protein, was normal. EEG did not show periodic activity. However, DW-MRI showed gyriform hyperintensity involving practically the entire cortical ribbon of the left hemisphere, whilst being limited to the posterior cingulate gyrus in the right hemisphere. DNA analysis showed no mutations or insertions in the prion protein gene, and homozigozity for methionine in codon 129. A subsequent brain biopsy confirmed the diagnosis of CJD. Thus, high signal on DW-MRI may be limited to the cerebral cortex and may present a very asymmetric distribution in sCJD.Hipersinal no cortex cerebral e/ou nos gânglios da base observado com a técnica de difusão da ressonância magnética (RM-DIF tem sido descrito como bom marcador diagnóstico da doença de Creutzfeldt-Jakob esporádica (DCJe. Relatamos caso de DCJe com evolução clínica atípica e achados incomuns na RM-DIF. Homem de 53 anos foi examinado com história de dois anos de demência rapidamente progressiva e ataxia cerebelar. Exame do líquido cefalorraqueano, incluindo pesquisa da proteína 14-3-3, foi normal; EEG não revelou atividade periódica; RM-DIF mostrou hiperintensidade nos giros que afetava quase inteiramente o manto cortical do hemisfério cerebral esquerdo e que no hemisfério direito se limitava à parte posterior do giro cíngulo. Análise do DNA revelou ausência de mutação ou de inserção no gene da proteína priônica e a presença de homozigose para metionina no códon 129. Biópsia cerebral confirmou o diagnóstico de DCJ

  9. MM1-type sporadic Creutzfeldt-Jakob disease with 1-month total disease duration and early pathologic indicators.

    Science.gov (United States)

    Iwasaki, Yasushi; Kato, Hiroko; Ando, Tetsuo; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

    2017-10-01

    A 62-year-old man presented with abnormal behavior and cognitive impairment. Diffusion-weighted images (DWI) obtained on MRI showed extensive hyperintense regions in the cerebral cortex and striatum. Myoclonus was recognized, and the patient died 1 month after the onset; his condition did not reach the akinetic mutism state. The brain weighed 1300 g and showed no apparent atrophy. Extensive spongiform changes were observed in the cerebral neocortex, striatum, thalamus and cerebellar cortex, but gliosis was mild or absent. Neuropil rarefaction and neuron loss were not apparent. Mild proliferation of anti- GFAP-positive astrocytes was observed in the cerebral cortex, but unaffected regions were noted. Regions without spongiform changes and GFAP-positive astrocytes included the hippocampal formation and subiculum. PrP immunostaining showed extensive diffuse synaptic-type PrP deposition in the gray matter, including the hippocampal region, but it was also mild. PrP gene analysis revealed no mutation with methionine homozygosity at polymorphic codon 129. Western blot analysis of proteinase K-resistant PrP indicated type 1 PrP(Sc) . The clinicopathological findings of the present case confirm several hypotheses: (i) the earliest pathologic evidence observed by HE staining in CJD are spongiform changes; (ii) DWI hyperintense regions indicate these spongiform changes; and (iii) regions without spongiform changes, gliosis and proliferation of GFAP-positive astrocytes, but with PrP deposition, exist in the early disease stage. © 2017 Japanese Society of Neuropathology.

  10. Red-backed vole brain promotes highly efficient in vitro amplification of abnormal prion protein from macaque and human brains infected with variant Creutzfeldt-Jakob disease agent.

    Science.gov (United States)

    Nemecek, Julie; Nag, Nabanita; Carlson, Christina M.; Schneider, Jay R.; Heisey, Dennis M.; Johnson, Christopher J.; Asher, David M.; Gregori, Luisa

    2013-01-01

    Rapid antemortem tests to detect individuals with transmissible spongiform encephalopathies (TSE) would contribute to public health. We investigated a technique known as protein misfolding cyclic amplification (PMCA) to amplify abnormal prion protein (PrPTSE) from highly diluted variant Creutzfeldt-Jakob disease (vCJD)-infected human and macaque brain homogenates, seeking to improve the rapid detection of PrPTSE in tissues and blood. Macaque vCJD PrPTSE did not amplify using normal macaque brain homogenate as substrate (intraspecies PMCA). Next, we tested interspecies PMCA with normal brain homogenate of the southern red-backed vole (RBV), a close relative of the bank vole, seeded with macaque vCJD PrPTSE. The RBV has a natural polymorphism at residue 170 of the PrP-encoding gene (N/N, S/S, and S/N). We investigated the effect of this polymorphism on amplification of human and macaque vCJD PrPTSE. Meadow vole brain (170N/N PrP genotype) was also included in the panel of substrates tested. Both humans and macaques have the same 170S/S PrP genotype. Macaque PrPTSE was best amplified with RBV 170S/S brain, although 170N/N and 170S/N were also competent substrates, while meadow vole brain was a poor substrate. In contrast, human PrPTSE demonstrated a striking narrow selectivity for PMCA substrate and was successfully amplified only with RBV 170S/S brain. These observations suggest that macaque PrPTSE was more permissive than human PrPTSE in selecting the competent RBV substrate. RBV 170S/S brain was used to assess the sensitivity of PMCA with PrPTSE from brains of humans and macaques with vCJD. PrPTSE signals were reproducibly detected by Western blot in dilutions through 10-12 of vCJD-infected 10% brain homogenates. This is the first report showing PrPTSE from vCJD-infected human and macaque brains efficiently amplified with RBV brain as the substrate. Based on our estimates, PMCA showed a sensitivity that might be sufficient to detect PrPTSE in v

  11. Red-backed vole brain promotes highly efficient in vitro amplification of abnormal prion protein from macaque and human brains infected with variant Creutzfeldt-Jakob disease agent.

    Directory of Open Access Journals (Sweden)

    Julie Nemecek

    Full Text Available Rapid antemortem tests to detect individuals with transmissible spongiform encephalopathies (TSE would contribute to public health. We investigated a technique known as protein misfolding cyclic amplification (PMCA to amplify abnormal prion protein (PrP(TSE from highly diluted variant Creutzfeldt-Jakob disease (vCJD-infected human and macaque brain homogenates, seeking to improve the rapid detection of PrP(TSE in tissues and blood. Macaque vCJD PrP(TSE did not amplify using normal macaque brain homogenate as substrate (intraspecies PMCA. Next, we tested interspecies PMCA with normal brain homogenate of the southern red-backed vole (RBV, a close relative of the bank vole, seeded with macaque vCJD PrP(TSE. The RBV has a natural polymorphism at residue 170 of the PrP-encoding gene (N/N, S/S, and S/N. We investigated the effect of this polymorphism on amplification of human and macaque vCJD PrP(TSE. Meadow vole brain (170N/N PrP genotype was also included in the panel of substrates tested. Both humans and macaques have the same 170S/S PrP genotype. Macaque PrP(TSE was best amplified with RBV 170S/S brain, although 170N/N and 170S/N were also competent substrates, while meadow vole brain was a poor substrate. In contrast, human PrP(TSE demonstrated a striking narrow selectivity for PMCA substrate and was successfully amplified only with RBV 170S/S brain. These observations suggest that macaque PrP(TSE was more permissive than human PrP(TSE in selecting the competent RBV substrate. RBV 170S/S brain was used to assess the sensitivity of PMCA with PrP(TSE from brains of humans and macaques with vCJD. PrP(TSE signals were reproducibly detected by Western blot in dilutions through 10⁻¹² of vCJD-infected 10% brain homogenates. This is the first report showing PrP(TSE from vCJD-infected human and macaque brains efficiently amplified with RBV brain as the substrate. Based on our estimates, PMCA showed a sensitivity that might be sufficient to detect Pr

  12. Description and analysis of 12 years of surveillance for Creutzfeldt-Jakob disease in Denmark, 1997 to 2008

    DEFF Research Database (Denmark)

    Gubbels, S; Bacci, S; Laursen, H;

    2012-01-01

    Prospective surveillance of Creutzfeldt–Jakob disease (CJD) was initiated in Denmark in 1997, following the observation of variant CJD in the United Kingdom. Demographic, clinical and diagnostic information was collected for each patient with clinical suspicion of CJD. Here we describe the method...

  13. RARB and STMN2 polymorphisms are not associated with sporadic Creutzfeldt-Jakob disease (CJD) in the Korean population.

    Science.gov (United States)

    Jeong, Byung-Hoon; Kim, Hae-Jung; Lee, Kyung-Hee; Carp, Richard I; Kim, Yong-Sun

    2014-01-01

    Polymorphisms in the prion protein gene (PRNP) can affect the susceptibility of humans to prion diseases. Recently, aside from PRNP, single nucleotide polymorphisms (SNPs) of two candidate genes for susceptibility to human prion diseases have been identified by human genome-wide association studies (GWAS) in the British population. One SNP of retinoic acid receptor beta (RARB), which is correlated with prion disease incubation time in mice, was associated with human prion diseases such as variant and iatrogenic CJD in the British population. The other SNP of the gene that encodes SCG10 (STMN2), which is related to clinical onset of sporadic CJD, was also associated with variant CJD and kuru. In order to investigate whether two polymorphisms located in upstream of RARB and STMN2 are associated with sporadic CJD in the Korean population, we compared genotype and allele frequencies of these polymorphisms in 217 sporadic CJD patients and 216 healthy Koreans. The genotype distribution and allele frequencies in upstream of the RARB and STMN2 polymorphisms were not significantly different between healthy controls and Korean sporadic CJD patients. This finding indicates that the two SNPs are not correlated with genetic susceptibility to sporadic CJD in the Korean population. This is the first genetic association study of RARB and STMN2 with sporadic CJD in an Asian population.

  14. R3-R4 deletion in the PRNP gene is associated with Creutzfeldt-Jakob disease (CJD)

    Energy Technology Data Exchange (ETDEWEB)

    Cervenakova, L.; Brown, P.; Nagle, J. [and others

    1994-09-01

    There are conflicting reports on the association of deletions in the PRNP gene on chromosome 20 with CJD, a rapidly progressive fatal spongiform encephalopathy. We accumulated data suggesting that a deletion of R3-R4 type (parts of the third and fourth repeats are deleted from the area of four repeating 24 bp sequences in the 5{prime} region of the gene) is causing CJD. Screening of 129 unaffected control individuals demonstrated presence of a deletion of R2 type in four (1.55% of the studied chromosomes), but none of them had the R3-R4 type. Of 181 screened patients with spongiform encephalopathies, two had a deletion of R3-R4 type with no other mutations in the coding sequence. Both patients had a classical rapidly progressive dementing disease and diffuse spongiform degeneration, and both cases were apparently sporadic. The same R3-R4 type of deletion was detected in three additional neuropathologically confirmed spongiform encephalopathy patients, of which two had other known pathogenic mutations in the PRNP gene: at codon 178 on the methionine allele exhibiting the phenotype of fatal familial insomnia, and codon 200 causing CJD with severe dementia; the third was a patient with iatrogenic CJD who developed the disease after treatment with growth hormone extracted from cadaveric human pituitary glands. In all cases the deletion coincided with a variant sequence at position 129 coding for methionine.

  15. Generalized cerebral atrophy seen on MRI in a naturally exposed animal model for creutzfeldt-jakob disease

    Directory of Open Access Journals (Sweden)

    Dasanu Constantin A

    2010-11-01

    Full Text Available Abstract Background Magnetic resonance imaging has been used in the diagnosis of human prion diseases such as sCJD and vCJD, but patients are scanned only when clinical signs appear, often at the late stage of disease. This study attempts to answer the questions "Could MRI detect prion diseases before clinical symptoms appear?, and if so, with what confidence?" Methods Scrapie, the prion disease of sheep, was chosen for the study because sheep can fit into a human sized MRI scanner (and there were no large animal MRI scanners at the time of this study, and because the USDA had, at the time of the study, a sizeable sample of scrapie exposed sheep, which we were able to use for this purpose. 111 genetically susceptible sheep that were naturally exposed to scrapie were used in this study. Results Our MRI findings revealed no clear, consistent hyperintense or hypointense signal changes in the brain on either clinically affected or asymptomatic positive animals on any sequence. However, in all 37 PrPSc positive sheep (28 asymptomatic and 9 symptomatic, there was a greater ventricle to cerebrum area ratio on MRI compared to 74 PrPSc negative sheep from the scrapie exposed flock and 6 control sheep from certified scrapie free flocks as defined by immunohistochemistry (IHC. Conclusions Our findings indicate that MRI imaging can detect diffuse cerebral atrophy in asymptomatic and symptomatic sheep infected with scrapie. Nine of these 37 positive sheep, including 2 one-year old animals, were PrPSc positive only in lymph tissues but PrPSc negative in the brain. This suggests either 1 that the cerebral atrophy/neuronal loss is not directly related to the accumulation of PrPSc within the brain or 2 that the amount of PrPSc in the brain is below the detectable limits of the utilized immunohistochemistry assay. The significance of these findings remains to be confirmed in human subjects with CJD.

  16. Gerstmann-Sträussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature.

    Science.gov (United States)

    Rusina, Robert; Fiala, Jindřich; Holada, Karel; Matějčková, Milada; Nováková, Jana; Ampapa, Radek; Koukolík, František; Matěj, Radoslav

    2013-01-01

    Gerstmann-Sträussler-Scheinker syndrome is a rare autosomal dominant disease caused by a mutation in the prion gene, usually manifesting as progressive ataxia with late cognitive decline. A 44-year-old woman with a positive family history developed early personality and behavior changes, followed by paresthesias and ataxia, later associated with memory problems, pyramidal signs, anosognosia and very late myoclonus, spasticity, and severe dysexecutive impairment. Magnetic resonance showed caudate, mesio-frontal, and insular hyper-intensities, electroencephalography revealed generalized triphasic periodic complexes. A pathogenic P102L mutation in the prion gene was detected. Our case differed from classical Gerstmann-Sträussler-Scheinker syndrome by rapid progression, severe dementia, abnormal electroencephalography and magnetic resonance findings, which were highly suggestive of familial Creutzfeldt-Jakob disease.

  17. [A case of Creutzfeldt-Jakob in the Mexican north-east and review of current concepts on prion disease].

    Science.gov (United States)

    Calderón-Garcidueñas, A L; Sagastegui-Rodríguez, J A; Canales-Ibarra, C; Farías-García, R

    2001-01-01

    The case reported here is that of a 50-year-old man from Saltillo, Coahuila, Mexico, who during the previous 15 months developed a demential syndrome and myoclonia. The brain biopsy led to establish a diagnosis of spongiform encephalopathy. The EEG showed periodic sharp wave complexes over the right hemisphere. A review on about prion diseases is included.

  18. Dynamic change of MRI in Creutzfeldt-Jakob disease (report of 1 case)%Creutzfeldt-Jakob病的MRI动态改变(附1例报告)

    Institute of Scientific and Technical Information of China (English)

    黄承芳; 姜丹; 金红花; 张智燕; 杨卫; 吴银侠

    2015-01-01

    目的:探讨Creutzfeldt-Jakob病( CJD)的MRI动态改变。方法回顾性分析1例CJD患者的临床资料。结果本例患者以进行性痴呆为特征,伴有共济失调、肌阵挛,发病3个月后达晚期。 DWI示早期双侧额、颞、顶、枕叶皮质、海马异常稍高信号,颞叶明显;随疾病进展脑皮质及海马异常信号变强,范围变大;晚期随着脑萎缩出现,脑皮质及海马异常高信号逐渐消失。患者因反复肺部感染死亡。结论散发型CJD患者DWI表现为早期病灶高信号,最常见于大脑皮质。%Objective To investigate the dynamic change of MRI in Creutzfeldt-Jakob disease ( CJD ) . Methods The clinical data of 1 sporadic CJD patient were analyzed retrospectively.Results The clinical features were progressive dementia, accompanied with ataxia and myoclonus in this case, and she reached terminal stage at 3 months after the onset of the disease.DWI showed the mildly hyperintensities in both side of cortex of frontal, temporal, parietal, occipital lobe and hippocampus, and especially of temporal lobe. With the progressive exacerbation of disease, the hyperintensities in cortex and hippocampus became higher and gradually distributed wider region.Late as brain atrophy, DWI displayed abnormally hyperintensities gradually decreased in both side cortexes of cerebra and hippocampus.The patient was died of pulmonary infection.Conclusion The DWI of sporadic CJD shows hyperintensities in the early stage, mostly in cerebral cortex.

  19. An autopsied case of MM1 + MM2-cortical with thalamic-type sporadic Creutzfeldt-Jakob disease presenting with hyperintensities on diffusion-weighted MRI before clinical onset.

    Science.gov (United States)

    Iwasaki, Yasushi; Mori, Keiko; Ito, Masumi; Mimuro, Maya; Kitamoto, Tetsuyuki; Yoshida, Mari

    2017-02-01

    + MM2-cortical with thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD), which suggests a broader spectrum of sCJD clinicopathological findings. © 2016 Japanese Society of Neuropathology.

  20. Brain in human nutrition and variant Creutzfeldt-Jakob disease risk (vCJD): detection of brain in retail liver sausages using cholesterol and neuron specific enolase (NSE) as markers.

    Science.gov (United States)

    Lücker, E; Horlacher, S; Eigenbrodt, E

    2001-08-01

    No information is available about the consumption of brain via meat products. With respect to the new variant of Creutzfeldt-Jakob disease (vCJD) and the presumed food-borne transmission of bovine spongiform encephalopathy (BSE) to humans, a preliminary survey for brain and/or spinal cord (tissues of the central nervous system, CNS) was conducted. We applied a previously developed integrated procedure using cholesterol and neuron specific enolase (NSE) as markers. Quantification of cholesterol had to be backed up by NSE immunochemistry in order to account for low specificity and relatively high variances. Out of 126 high-quality finely graded liver sausages, five samples (4 %) showed positive NSE immunoresponses. In four of these samples a transgression of the normal maximum cholesterol content was obtained. The identification of such a considerable number of CNS-positive sausages indicates that brain consumption is not as rare as previously assumed. Overall, the present integrated method could be successfully applied for the detection of CNS in heat-treated meat products. Its routine application in official food control would deter illegal practice and thus help to control transmissible spongiform encephalopathies.

  1. An autopsy-verified case of FTLD-TDP type A with upper motor neuron-predominant motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Hayashi, Yuichi; Iwasaki, Yasushi; Takekoshi, Akira; Yoshikura, Nobuaki; Asano, Takahiko; Mimuro, Maya; Kimura, Akio; Satoh, Katsuya; Kitamoto, Tetsuyuki; Yoshida, Mari; Inuzuka, Takashi

    2016-11-01

    Here we report an autopsy-verified case of frontotemporal lobar degeneration (FTLD)-transactivation responsive region (TAR) DNA binding protein (TDP) type A with upper motor neuron-predominant motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD). A 69-year-old woman presented with an 11-month history of progressive dementia, irritability, insomnia, and gait disturbance without a family history of dementia or prion disease. Neurological examination revealed severe dementia, frontal signs, and exaggerated bilateral tendon reflexes. Periodic sharp-wave complexes were not observed on the electroencephalogram. Brain diffusion MRI did not reveal abnormal changes. An easy Z score (eZIS) analysis for (99m)Tc-ECD-single photon emission computed tomography ((99m)Tc-ECD-SPECT) revealed a bilateral decrease in thalamic regional cerebral blood flow (rCBF). PRNP gene analysis demonstrated methionine homozygosity at codon 129 without mutation. Cerebrospinal fluid (CSF) analysis showed normal levels of both 14-3-3 and total tau proteins. Conversely, prion protein was slowly amplified in the CSF by a real-time quaking-induced conversion assay. Her symptoms deteriorated to a state of akinetic mutism, and she died of sudden cardiac arrest, one year after symptom onset.  Despite the SPECT results supporting a clinical diagnosis of MM2-thalamic-type sCJD, a postmortem assessment revealed that this was a case of FTLD-TDP type A, and excluded prion disease. Thus, this case indicates that whereas a bilateral decreasing thalamic rCBF detected by (99m)Tc-ECD-SPECT can be useful for diagnosing MM2-thalamic-type sCJD, it is not sufficiently specific. Postmortem diagnosis remains the gold standard for the diagnosis of this condition.

  2. Decreased regional cerebral blood flow in the bilateral thalami and medulla oblongata determined by an easy Z-score (eZIS) analysis of (99m)Tc-ECD-SPECT images in a case of MM2-thalamic-type sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Hayashi, Yuichi; Iwasaki, Yasushi; Yoshikura, Nobuaki; Asano, Takahiko; Hatano, Taku; Tatsumi, Shinsui; Satoh, Katsuya; Kimura, Akio; Kitamoto, Tetsuyuki; Yoshida, Mari; Inuzuka, Takashi

    2015-11-15

    We report a case of autopsy-verified MM2-thalamic-type sporadic Creutzfeldt-Jakob disease (sCJD) in a 46-year-old patient with a 16-month history of abnormal behavior, progressive dementia, insomnia, and speech disturbances without family history. Neurological examination revealed progressive dementia, frontal signs, insomnia, speech disturbance, gait disturbance and bilaterally exaggerated tendon reflexes. Both brain MRI and cerebrospinal fluid examinations, including 14-3-3 protein, yielded normal results. An easy Z-score (eZIS) analysis for (99m)Tc-ethyl cysteinate dimer-single photon emission computed tomography ((99m)Tc-ECD-SPECT) revealed decreased regional cerebral blood flow in the bilateral thalami and medulla oblongata. PRNP gene analysis revealed methionine homozygosity at codon 129 without mutation. Neuropathological examinations revealed severe neuronal loss, gliosis, and hypertrophic astrocytosis in the medial thalamus and inferior olivary nucleus. A slight depletion of Purkinje cells was observed. PrP immunostaining showed no obvious PrP deposits in the basal ganglia, thalamus, cerebellum, or brainstem; however, mild synaptic-type PrP deposits with some smaller plaque-like structures were only partially observed in the localized region of the frontal lobe with the spongiform change. Western blot analyses of protease-resistant PrP showed a type 2 pattern. In conclusion, eZIS analysis of (99m)Tc-ECD-SPECT images is useful for detecting both thalamic and medullary lesions. This is the first case of medullary lesions detected in a live patient with MM2-thalamic-type sCJD using SPECT.

  3. Localization of disease-related PrP in Danish patients with different subtypes of prion disease

    DEFF Research Database (Denmark)

    Bergstrom, A.L.; Heegaard, P.M.; Dyrbye, H.

    2009-01-01

    blot (PET-blot), immunohistochemistry (IHC) and Western blotting (WB) were combined to study the morphology and localization of disease related PrP in Danish patients with different subtypes of sporadic Creutzfeldt-Jakob disease, familiar Creutzfeldt-Jakob disease and Gerstmann......-Straussler-Scheinker disease. RESULTS AND CONCLUSION: There was a good morphological and anatomical concordance between what was found with PET-blot and IHC in all patients. In some specific cases, the PET-blot was superior to IHC in sensitivity. To our knowledge, this is the first report where PET-blot analysis is applied...

  4. Localization of disease-related PrP in Danish patients with different subtypes of prion disease

    DEFF Research Database (Denmark)

    Bergström, A. L.; Heegaard, Peter M. H.; Dyrbye, H.;

    2009-01-01

    Objective: The transmissible spongiform encephalopaties are characterized by vacuolization, neuronal loss, gliosis and deposition of a misfilded and Proteinase K resistant isoform of the prion protein (PrPSc) in the central nervous system. Methods, materials and patients: Paraffin-embedded tissue...... blot (PET-blot), immunohistochemistry (IHC) and Western blotting (WB) were combined to stydy the morphology and localization of disease related PrP in Danish patients with different subtypes of sporadic Creutzfeldt-Jakob disease, familiar Creutzfeldt-Jakob disease and Gertsmann...

  5. Gerstmann-Straussler-Scheinker Disease

    Science.gov (United States)

    ... include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia. Treatment There is no cure for GSS, nor are ... include Creutzfeldt-Jakob disease, kuru, and fatal familial insomnia. Treatment There is no cure for GSS, nor are ...

  6. Human Variant Creutzfeldt-Jakob disease and sheep scrapie PrP (res) detection using seeded conversion of recombinant prion protein.

    NARCIS (Netherlands)

    Orrú, C.D.; Wilham, J.M.; Hughson, A.G.; Raymond, L.D.; McNally, K.L.; Bossers, A.; Ligios, C.; Caughey, B.

    2009-01-01

    The pathological isoform of the prion protein (PrPres) can serve as a marker for prion diseases, but more practical tests are needed for preclinical diagnosis and sensitive detection of many prion infections. Previously we showed that the quaking-induced conversion (QuIC) assay can detect sub-femtog

  7. Clinical findings of a probable case of MM2-cortical-type sporadic Creutzfeldt-Jakob disease with antibodies to anti-N-terminus of α-enolase.

    Science.gov (United States)

    Hayashi, Yuichi; Yamada, Megumi; Kimura, Akio; Asano, Takahiko; Satoh, Katsuya; Kitamoto, Tetsuyuki; Yoneda, Maokoto; Inuzuka, Takashi

    2017-10-02

    We report the case of a 76-year-old woman presenting with 47-month history of progressive dementia and cortical blindness with no family history. Antibodies against thyroid glands and the N-terminus of α-enolase (NAE) were detected in her serum. Neurological examination revealed progressive dementia, frontal signs, visual disturbance, and exaggerated bilateral tendon reflexes in both legs. Diffusion MRI showed cortical hyper-intensities in the bilateral occipital and parietal, and the left frontal and temporal cortices. (99m)Tc-ethyl cysteinate dimer-single photon emission computed tomography indicated decreased regional cerebral blood flow throughout the bilateral parietal lobes and partially in the left frontal and temporal lobes. PRNP gene analysis showed no mutations with methionine homozygosity at codon 129 in peripheral blood. Cerebrospinal fluid examination, including 14-3-3 and total tau protein detection, revealed normal levels; however, prion proteins were amplified by the real-time quaking-induced conversion method. Hashimoto's encephalopathy was excluded on the basis of unresponsiveness to corticosteroids. The symptoms progressed slowly. Periodic sharp-wave complexes were observed on electroencephalogram 36 months after the onset of symptoms; the patient reached a state of akinetic mutism at 47 months. This was a probable case of MM2-cortical-type sCJD with anti-NAE antibodies based on the World Health Organization (WHO) diagnostic criteria for sCJD, genetic information, and the slowly progressive course. However, this case did not meet with the probable WHO diagnostic criteria until 3 years after symptom onset, highlighting the difficulty of diagnosing a living case of the MM2-type of sCJD. Therefore, establishment of clinical diagnostic criteria for MM2-type of sCJD is required.

  8. Enfermedad de Creutzfeldt-Jakob: Reporte de dos casos.

    OpenAIRE

    Carla Brevis C.; Eduardo López A.; Catherine Navarrete G.

    2011-01-01

    INTRODUCCIÓN: La enfermedad de Creutzfeldt-Jakob (ECJ) es una enfermedad priónica neurodegenerativa que afecta el Sistema Nervioso Central (SNC), invariablemente mortal. Clasificada en esporádica, familiar e iatrogénica, se manifiesta por cuadro demencial subagudo, síntomas motores, visuales, y mioclonías. Presenta electroencefalograma (EEG) con actividad espicular pseudoperiódica; resonancia agnética (RM) con hiperintesidad de núcleos estriados y áreas de corteza cerebral; y líquido céfalo r...

  9. Less protease-resistant PrP in a patient with sporadic CJD treated with intraventricular pentosan polysulphate.

    Science.gov (United States)

    Terada, T; Tsuboi, Y; Obi, T; Doh-ura, K; Murayama, S; Kitamoto, T; Yamada, T; Mizoguchi, K

    2010-02-01

    Treatment with intraventricular pentosan polysulphate (PPS) might be beneficial in patients with Creutzfeldt-Jakob disease. We report a 68-year-old woman with sporadic Creutzfeldt-Jakob disease who received continuous intraventricular PPS infusion (1-120 microg/kg/day) for 17 months starting 10 months after the onset of clinical symptoms. Treatment with PPS was well tolerated but was associated with a minor, transient intraventricular hemorrhage and a non-progressive collection of subdural fluid. The patient's overall survival time was well above the mean time expected for the illness but still within the normal range. Post-mortem examination revealed that the level of abnormal protease-resistant prion protein in the brain was markedly decreased compared with levels in brains without PPS treatment. These findings suggest that intraventricular PPS infusion might modify the accumulation of abnormal prion proteins in the brains of patients with sporadic Creutzfeldt-Jakob disease.

  10. Enfermedad de Creutzfeldt-Jakob: Reporte de dos casos.

    Directory of Open Access Journals (Sweden)

    Carla Brevis C.

    2011-12-01

    Full Text Available INTRODUCCIÓN: La enfermedad de Creutzfeldt-Jakob (ECJ es una enfermedad priónica neurodegenerativa que afecta el Sistema Nervioso Central (SNC, invariablemente mortal. Clasificada en esporádica, familiar e iatrogénica, se manifiesta por cuadro demencial subagudo, síntomas motores, visuales, y mioclonías. Presenta electroencefalograma (EEG con actividad espicular pseudoperiódica; resonancia agnética (RM con hiperintesidad de núcleos estriados y áreas de corteza cerebral; y líquido céfalo raquídeo (LCR con aumento de proteína 14-3-3. Finalmente, un estudio histopatológico del cerebro establece la encefalopatía espongiforme. PRESENTACIÓN DEL CASO: Se exponen dos casos de ECJ. Ambas mujeres, 44 y 67 años, con alteración de la marcha, deterioro cognitivo y mioclonías, cuadro rápidamente progresivo hasta la dependencia absoluta. EEG en ambos casos compatible con ECJ, además de imágenes que revelan hiperintensidad en núcleos estriados y/o zonas de la corteza. Ambas cursaron con infecciones durante su hospitalización y se les realizó gastrostomía por presentar trastorno deglutorio severo. DISCUSIÓN: El diagnóstico de ECJ se sospecha con la clínica, y se fundamenta con hallazgos característicos en RM, EEG y análisis de LCR. Ante la sospecha de la forma familiar se sugiere estudio genético, sin embargo, en el Hospital Clínico Herminda Martin (HCHM no se realiza. Al ser una enfermedad invariablemente mortal y sin tratamiento, dificulta la decisión entre realización de estudios e intervenciones, contra el manejo expectante.

  11. Coexistence of mixed phenotype Creutzfeldt-Jakob disease, Lewy body disease and argyrophilic grain disease plus histological features of possible Alzheimer's disease: a multi-protein disorder in an autopsy case.

    Science.gov (United States)

    Fernández-Vega, Iván; Ruiz-Ojeda, Javier; Juste, Ramon A; Geijo, Maria; Zarranz, Juan Jose; Sánchez Menoyo, Jose Luis; Vicente-Etxenausia, Ikerne; Mediavilla-García, Jennifer; Guerra-Merino, Isabel

    2015-02-01

    We report hereby an autopsy case of sporadic mixed phenotype CJD without hereditary burden and a long-term clinical course. An 80-year old man was diagnosed with mild cognitive impairment 27 months before death, caused by bronchopneumonia and severe respiratory impairment. During this time, the patient developed gradual mental deterioration, some sleeping problems and myoclonus. Other clinical manifestations were progressive gait problems, language deterioration, presence of primitive reflexes and irritability. In keeping with those symptoms, a rapidly evolving dementia was clinically suspected. Cerebrospinal fluid test for 14-3-3 protein was negative. However, an abnormal EEG and MRI at end-stage of disease were finally consistent with CJD. Post-mortem examination revealed a massive cortical neuronal loss with associated reactive astrocytosis, also evident in the white matter. Diffuse spongiform changes involving some basal ganglia, especially medial thalamus, some troncoencephalic nuclei, mainly inferior olivary nucleus and the molecular layer of the cerebellum were seen. Immunorreactive deposits for anti-prion protein antibody were present at different areas of the CNS. Additionally, Lewy bodies were observed at the brainstem and amygdala. Furthermore, argirophilic grains together with oligodendroglial coiled bodies and pre-tangle inclusions in the neurons from the limbic system containing hyperphosphorylated 4R tau were noted. To the best of our knowledge, this is the first case of CJD combined with Lewy body disease and argirophilic grain disease. Furthermore, we believe this case is an extremely rare combination of MM2-cortical-type and MM2-thalamic-type sporadic CJD (sCJD), which explains the broad spectrum of MM2-type sCJD findings and symptoms. Moreover, histological features of possible Alzheimer's disease were also reported.

  12. Localization of disease-related PrP in Danish patients with different subtypes of prion disease

    DEFF Research Database (Denmark)

    Bergström, A. L.; Heegaard, Peter M. H.; Dyrbye, H.

    2009-01-01

    Objective: The transmissible spongiform encephalopaties are characterized by vacuolization, neuronal loss, gliosis and deposition of a misfilded and Proteinase K resistant isoform of the prion protein (PrPSc) in the central nervous system. Methods, materials and patients: Paraffin-embedded tissue...... blot (PET-blot), immunohistochemistry (IHC) and Western blotting (WB) were combined to stydy the morphology and localization of disease related PrP in Danish patients with different subtypes of sporadic Creutzfeldt-Jakob disease, familiar Creutzfeldt-Jakob disease and Gertsmann......-Sträussler-Scheinker disease. Results and conclusion: There was a good morphological and anatomical concordance between what was found with PET-blot and IHC in all patients. In some specific cases, the PET-blot was superior to IHC in sensitivity. to our knowledge, this is the first report where PET-blot analysis is applied...

  13. Diffusion-weighted magnetic resonance imaging - a new instrument in the diagnosis of Creutzfeldt-Jacob's disease; Diffusjonsvektet magnetisk resonanstomografi - nytt i diagnostikken av Creutzfeldt-Jakobs sykdom

    Energy Technology Data Exchange (ETDEWEB)

    Romi, Fredrik; Smivoll, Alf Inge; Moerk, Sverre; Tysnes, Ole-Bjoern

    2000-07-01

    Creutzfeldt-Jacob's disease (CID) is characterised by rapidly progressive dementia, ataxia, myoclonus and several other neurological deficits. It generally affects older adults and occurs in sporadic, genetic and iatrogenic forms. Death occurs usually within one year after onset of the disease. The diagnosis is based on clinical criteria, neuro physiological and radiological findings and confirmed by post mortal histopathology. During the last two years several cases of CID have been reported with diffusion-weighted magnetic resonance imaging (MR) abnormalities represented by increased signal intensity indicating reduced diffusion in basal ganglia and/or cortex cerebric. These abnormalities seem to be characteristic of CID. We report a case of CID in a 54 year old woman who developed vertigo, nystagmus, ataxia, myoclonus and dementia over a period of eight months. Diffusion-weighted magnetic resonance imaging showed increased signal intensity in corpus striatum and gyrus conguli. The diagnosis was post mortally confirmed with histopathology. (Author) 7 figs., 15 refs.

  14. Cortical sensory loss in a patient with posterior cortical atrophy: a case report.

    Science.gov (United States)

    Hsu, Jung-Lung; Chen, Wei-Hung; Chiu, Hou-Chang

    2004-02-01

    Patients with posterior cortical atrophy (PCA) who present with initial symptoms of higher visual function deficits eventually develop alexia, aphasia, and components of Balint's syndrome or Gerstmann's syndrome. Recently, pathological findings were reported for these patients that are generally suggestive of Alzheimer's disease even though Creutzfeldt-Jakob disease (CJD) was presumed as an alternative cause of some autopsy-diagnosed PCA cases. Here, we report a case with a four-year progression of cognitive and higher visual function deterioration, and with features not described in previously reported PCA cases (i.e., a distinct sensory complaint and early frontal lobe involvement). To summarize, this case belongs to perceptual-motor syndrome of asymmetric cortical degeneration and the underlying neuropathology is more suggestive of Alzheimer's disease than of Creutzfeldt-Jakob disease.

  15. Binswanger's Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  16. Batten Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  17. Behcet's Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  18. Krabbe Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  19. Antithyroideaantistof hos to patienter med subakut dementiel udvikling, ataksi og myoklonus

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Hansen, Klaus; Gonzalez, Teresa

    2012-01-01

    Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and posit......Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus...... and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia...

  20. Antithyroideaantistof hos to patienter med subakut dementiel udvikling, ataksi og myoklonus

    DEFF Research Database (Denmark)

    Kondziella, Daniel; Hansen, Klaus; Gonzalez, Teresa

    2012-01-01

    Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus and posit......Hashimoto encephalitis (HE) is a steroid-responsive autoimmune encephalitis with anti-thyroid antibodies; Creutzfeldt-Jakob disease (CJD) is a prion disease. Both disorders can have a similar clinical presentation. Two women, 67 and 63 year-old, with subacute dementia, ataxia, myoclonus...... and positive antithyroid antibodies were given oral steroids. Whereas one progressively declined and had histopathologically proven CJD, the other made a complete recovery and was diagnosed with HE. Anti-thyroid antibodies can occur in CJD, but when present in a patient with subacute dementia, ataxia...

  1. Doença de Creutzfeldt-Jakob: registro de caso

    Directory of Open Access Journals (Sweden)

    João Aris Kouyoumdjian

    1987-03-01

    Full Text Available É apresentado um caso da doença de Creutzfeldt-Jakob (DCJ com estudo neuropatológico. O paciente, de 76 anos de idade e do sexo masculino, apresentou quadro de demência rapidamente progressiva associada a ataxia, afasia, mioclonias e síndrome motora piramidal com evolução de aproximadamente 4 meses até o óbito. Havia antecedente de trauma ocular à direita causado por substância química de origem vegetal há cerca de 12 a 18 meses. O eletrencefalograma revelou lentificação difusa do traçado. Os achados neuropatológicos foram característicos. O encontro de partícula proteinácea infectante no "scrapie", descrita como "prion" ou PrP27-30 cujo antissoro reagiu com proteínas do cérebro de pacientes com DCJ abriu nova perspectiva na conceituação do agente etiológico, descrito anteriormente como vírus não convencional. A descrição de alguns casos de DCJ em jovens que faziam uso de hormônio de crescimento preparado de hipófises de cadáveres é preocupante em termos de aparecimento de novos casos.

  2. Enfermedad de creutzfeldt-jakob en el Perú: reporte de once casos

    Directory of Open Access Journals (Sweden)

    Luis Torres-Ramírez

    2014-04-01

    Full Text Available La enfermedad de Creutzfeldt-Jakob (ECJ es una enfermedad neurológica fatal producida por la isoforma patológica de la proteína priónica humana. Se reporta las características clínicas de seis casos de la forma esporádica de ECJ con diagnóstico definitivo por histopatología, y cinco casos con diagnóstico probable, en pacientes atendidos en el Instituto Nacional de Ciencias Neurológicas del Perú. La edad de inicio en los casos definitivos fue de 55,8 años y, en los probables, de 59,6 años, con predominio del sexo masculino. El tiempo de enfermedad fue de 8,8 meses. Se encontró un EEG típico en 50% de los casos definitivos y 80% de los probables. La proteína 14-3-3 en líquido cefalorraquídeo fue positiva en un caso probable y los hallazgos típicos en resonancia magnética se observaron en dos casos probables. Todos los casos cursaron con una evolución clínica típica de la enfermedad, y se considera el primer reporte de ECJ en el Perú

  3. Enfermedad de creutzfeldt-jakob en el Perú: reporte de once casos

    Directory of Open Access Journals (Sweden)

    Luis Torres-Ramírez

    Full Text Available La enfermedad de Creutzfeldt-Jakob (ECJ es una enfermedad neurológica fatal producida por la isoforma patológica de la proteína priónica humana. Se reporta las características clínicas de seis casos de la forma esporádica de ECJ con diagnóstico definitivo por histopatología, y cinco casos con diagnóstico probable, en pacientes atendidos en el Instituto Nacional de Ciencias Neurológicas del Perú. La edad de inicio en los casos definitivos fue de 55,8 años y, en los probables, de 59,6 años, con predominio del sexo masculino. El tiempo de enfermedad fue de 8,8 meses. Se encontró un EEG típico en 50% de los casos definitivos y 80% de los probables. La proteína 14-3-3 en líquido cefalorraquídeo fue positiva en un caso probable y los hallazgos típicos en resonancia magnética se observaron en dos casos probables. Todos los casos cursaron con una evolución clínica típica de la enfermedad, y se considera el primer reporte de ECJ en el Perú

  4. Diversidad sindromatica de la enfermedad de Creutzfeldt-Jakob: correlato neurofisiologico e histopatologico

    Directory of Open Access Journals (Sweden)

    Sergio Ferrer D

    1982-03-01

    Full Text Available Se estudian dos casos de enfermedad de Creutzfeldt-Jakob comprobados por examen necrópsico. Uno de ellos presentaba típicas descargas hipersincrónicas, periódicas en el electroencefalograma; el otro caso no mostraba estas descargas epileptiformes y evolucionó con una lentitud difusa progresiva. La espongiosis, gliosis y pérdida neuronal fué intensa en la corteza del caso con espigas y muy moderada en el caso sin espigas. El compromiso subcortical era similar en ambos casos. Se postula que la diferente expresión topográfica de su histopatología explicaria tambien la diferencia en el comportamiento de los potenciales evocados somatosensoriales y el diferente modelo electroencefalográfico del sueno penthotálico. La independencia de las descargas epileptiformes en cada hemisferio se prueba con el test de Wada. Se discute el origen de las espigas y su periodicidad. Se postula teóricamente que el predominio de las lesiones de las capas II a IV privaria a las células piramidales remanentes, de influencias inhibitorias, lo que explicaria la génesis de las espigas.

  5. Tay-Sachs Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  6. Infantile Refsum Disease

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  7. Prion diseases of the brain; Prionenerkrankung des Gehirns

    Energy Technology Data Exchange (ETDEWEB)

    Lutz, Kira; Urbach, Horst [Universitaetsklinik Freiburg (Germany). Klinik fuer Neuroradiologie

    2015-09-15

    The prion diseases of the brain, especially Creutzfeldt-Jakob disease, are rare fatal neurodegenerative disorders. A definitive CJD diagnosis is currently only possible by a brain biopsy or post mortem autopsy. The diagnosis of Creutzfeldt-Jakob disease is based on clinical signs, pathognomonic EEG, on typical MRI findings and the examination of the cerebrospinal fluid. Using the MRI the diagnosis Creutzfeldt-Jakob disease can be confirmed or excluded with high certainty. The MRI examination should contain diffusion-weighted and FLAIR imaging sequences. This review article provides an overview of the prion diseases of the brain with the corresponding imaging findings.

  8. Transmissible Spongiform Encephalopathies (Prion Diseases)

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  9. Creutzfeldt-Jacob’s Disease Presenting with Psychiatric Symptomsand Severe Itching

    Directory of Open Access Journals (Sweden)

    Emine Rabia Koç

    2013-03-01

    Full Text Available Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disease that is characterized by the accumulation of abnormal prion-like proteins in the central nervous system. Clinical features, electroencephalography, brain magnetic resonance imaging and protein 14.3.3 is useful in diagnosis. Protein 14.3.3 may be negative in the early or late stages of the disease. Presentation with psychiatric symptoms and itching is not typical in the beginning of the disease In this paper, we present a patient who was first accepted to the pschiatry ward because of his psychiatric symtpoms and had severe itching, resistant to antihistaminic drugs.

  10. 医源性Creutzfeldt-Jakob病%Introgenic Creutzfeldt-Jakob Disease

    Institute of Scientific and Technical Information of China (English)

    林世和

    2002-01-01

    @@ 1999年7月19~21日在世界卫生组织官员Maura Ricketts的组织领导下,奥地利著名神经病学家Herbert Budka、英国Martin Zeidler、MR Bradley教授等专程来到北京,由中国卫生部和世界卫生组织联合举办,中国预防医学科学院具体承办的Creutzfeldt-Jakob病(CJD)监测讲习班,旨在我国尽快成立国家CJD监测中心,同世界发达国家与世界卫生组织取得紧密联系,共同努力尽快发现CJD的危险因素与致病因子,为减少和预防CJD的发生与扩延做出自己的贡献.会议期间吉林大学第一医院CJD课题组报告了国人CJD的临床、病理、免疫组化、基因检测、14-3-3蛋白和动物传递的研究.董小平研究员报告了人朊病毒病的实验室研究,郭玉璞教授对CJD的病理改变做了补充发言.

  11. Investigation of prion protein gene in 10 sporadic Creutzfeldt-Jakob disease patients: a new novel mutation of prion protein gene%散发性Creutzfeldt-Jakob病患者10例prion基因研究

    Institute of Scientific and Technical Information of China (English)

    南善姬; 赵节绪; 林世和; 江新梅; 宋晓南

    2006-01-01

    目的 检测10例Creutzfeldt-Jakob病(CJD)患者prion基因(PRNP)外显子突变情况.方法 抽取患者外周静脉血,提取DNA,PCR法扩增PRNP外显子后直接测序,并用限制性内切酶Nsp Ⅰ检测PRNP 129位点密码子基因型.结果 2例肯定CJD患者中,1例PRNP检测未见异常,另1例PRNP第729碱基G被C取代(729G→C),使编码prion第211个氨基酸的密码子GAG变成了GAC,翻译后第211个氨基酸由谷氨酸变为天冬氨酸(E211D).8例很可能CJD患者中,2例PRNP第751碱基G被A取代(751G→A),使编码prion第219个氨基酸的密码子GAG变成了AAG,翻译后第219个氨基酸由谷氨酸变为赖氨酸(E219K).10例CJD患者PRNP 129位点密码子基因型都是甲硫氨酸纯合型.结论 1例肯定CJD患者的prion基因外显子存在一种新的点突变E211D,这很可能是导致遗传prion病发生的原因.2例很可能CJD患者的prion基因突变E219K,与M129V同属于基因多态性,而不是致病原因.prion基因检测有助于prion病的诊断.

  12. Doença de Creutzfeldt-Jakob forma Heidenhain: relato de caso com achados de ressonância magnética e DWI

    OpenAIRE

    Arruda Walter Oleschko; Bordignon Kelly C.; Milano Jerônimo B.; Ramina Ricardo

    2004-01-01

    A doença de Creutzfeldt-Jakob (CJD) é uma forma de demência pré-senil de rápida evolução, geralmente fatal em um ano. Casos autóctones no Brasil têm sido raramente descritos assim como achados de ressonância magnética. Mulher, natural de Ponta Grossa PR, branca , 54 anos , foi admitida no serviço em outubro de 2001 com quadro de amaurose bilateral cortical progressiva desde há 1 mês do internamento. Nunca viajou ao exterior e foi somente submetida a uma cirurgia de redução do estômago, para o...

  13. Gastrostomy in patients with prion disease.

    Science.gov (United States)

    Iwasaki, Yasushi; Mori, Keiko; Ito, Masumi; Kawai, Yoshinari; Hoshino, Ken-Ichiro; Kawabata, Yuko; Mimuro, Maya; Yoshida, Mari

    2017-05-04

    Patients with prion diseases can live for long periods of time in a state of akinetic mutism given appropriate management of their symptoms. To study symptom support in these cases, we performed gastrostomies on 3 patients with V180I genetic Creutzfeldt-Jakob disease (CJD) who had become akinetic and mute, and compared them to 14 other similar patients being fed by tube. In the 3 gastrostomy cases, there were no direct complications due to the gastrostomy or tube feeding, nor were there episodes of discontinuation of tube feeding or initiation of continuous drip infusion due to severe complications. Antibiotics were administered for mild infections, a complication of CJD, with 0.2% and 8.8% of the total time after gastrostomy being used for intravenous or transluminal administration, respectively. We compared the present patient series with that of our previous report statistically, and found that patients undergoing gastrostomy required significantly fewer discontinuations of tube feeding than those who did not. No significant difference in antibiotic administration was found between groups, however. It is our conclusion that gastrostomy should be allowed for symptom support in akinetic patients with prion disease, but adequate informed consent must be provided to the patient's family.

  14. Neprilysin-Like Activity Correlates with CSF-Tau and Phospho-Tau in Patients with Alzheimer's Disease

    DEFF Research Database (Denmark)

    Sorensen, Katrine Christa Nordskov; Simonsen, Anja Hviid; Holmetoft, Ulla Bachmann

    2013-01-01

    the level and enzyme activity of NEP in serum and CSF, using a sandwich enzyme-linked immunosorbent assay and a fluorescence resonance energy transfer assay, respectively, in patients with AD, frontotemporal dementia (FTD), Creutzfeldt-Jakob disease (CJD), and depression. Results were correlated...... with the levels of CSF AD biomarkers Aβ42, hyperphosphorylated tau (p-tau), and total tau (t-tau). In serum, we found no differences in NEP-like activity or concentration between the groups and there were no correlations between NEP and AD biomarkers. In CSF, no influence of age or gender on NEP levels or enzyme...... activity was seen. However, NEP concentration was lower and the specific activity was higher in FTD compared to AD. Aβ42 levels in CSF did not correlate with NEP concentration or activity in the AD, CJD, or depression groups, but NEP-like activity and Aβ42 levels correlated significantly in the FTD group...

  15. [Patient with Creutzfeld-Jakob disease - a case report].

    Science.gov (United States)

    Pastuszak, Żanna; Tomczykiewicz, Kazimierz; Stępień, Adam; Piusińska-Macoch, Renata; Klimczuk, Joanna; Rolewska, Agnieszka; Galbarczyk, Dariusz

    2017-02-20

    Creutzfeldt-Jakob disease (CJD) is a rare syndrome of central nervous system caused by infectious protein called prion. There are four types of CJD: sporadic (sCJD), familial (fCJD), jatrogenic (jCJD) and variant (vCJD). The most frequent symptoms are rapidly progressing dementia, mioclonias, akinetic mutism and signs of cerebellum dysfunction. In sCJD, MRI often shows high signal intensity in the putamen and caudate nucleus on T2-weighted images while in vCJD pulvinar sign is often observed. 70% patients with CJD often has characteristic generalized periodic sharp wave pattern in electroencephalography. In case of 90% patients with CJD 14-3-3 protein is present in cerebrospinal fluid. Neuropathological studies play an important role in disease diagnosis. CJD incidence is 0.5-1 on 1000000 people but some cases can be undiagnosed. Presented study is a description of woman with sCJD confirmed with histopathological study. Since childhood patient had psychotic symptoms and behavior disturbances. Patient wasn't diagnosed due to this symptoms. Few months before admission to hospital her condition was getting worse. Symptoms of cerebellum, pyramidal and extrapyramidal system occurred. In cerebrospinal fluid 14-3-3 protein was detected. In EEG and MRI changes specific for sCJD was observed. After three months patient died.

  16. Quantitative EEG parameters correlate with the progression of human prion diseases

    Science.gov (United States)

    Wehner, Tim; Lowe, Jessica; Porter, Marie-Claire; Kenny, Joanna; Thompson, Andrew; Rudge, Peter; Collinge, John; Mead, Simon

    2016-01-01

    Background Prion diseases are universally fatal and often rapidly progressive neurodegenerative diseases. EEG has long been used in the diagnosis of sporadic Creutzfeldt-Jakob disease; however, the characteristic waveforms do not occur in all types of prion diseases. Here, we re-evaluate the utility of EEG by focusing on the development of biomarkers. We test whether abnormal quantitative EEG parameters can be used to measure disease progression in prion diseases or predict disease onset in healthy individuals at risk of disease. Methods In the National Prion Monitoring Cohort study, we did quantitative encephalography on 301 occasions in 29 healthy controls and 67 patients with prion disease. The patients had either inherited prion disease or sporadic Creutzfeldt-Jakob disease. We computed the main background frequency, the α and θ power and the α/θ power ratio, then averaged these within 5 electrode groups. These measurements were then compared among participant groups and correlated with functional and cognitive scores cross-sectionally and longitudinally. Results We found lower main background frequency, α power and α/θ power ratio and higher θ power in patients compared to control participants. The main background frequency, the power in the α band and the α/θ power ratio also differed in a consistent way among the patient groups. Moreover, the main background frequency and the α/θ power ratio correlated significantly with functional and cognitive scores. Longitudinally, change in these parameters also showed significant correlation with the change in clinical and cognitive scores. Conclusions Our findings support the use of quantitative EEG to follow the progression of prion disease, with potential to help evaluate the treatment effects in future clinical-trials. PMID:27413165

  17. MM2-Thalamic Creutzfeldt-Jacob Disease: Neuropathological, Biochemical and Transmission Studies Identify a Distinctive Prion Strain

    NARCIS (Netherlands)

    Moda, F.; Suardi, S.; Fede, Di G.; Indaco, A.; Limido, L.; Vimercati, C.; Ruggerone, M.; Campagnani, I.; Langeveld, J.P.M.; Terruzzi, A.; Brambilla, A.; Zerbi, P.; Fociani, P.; Bishop, T.; Will, G.W.; Manson, J.C.; Giaccone, G.; Tagliavini, F.

    2012-01-01

    In CreutzfeldtJakob disease (CJD), molecular typing based on the size of the protease resistant core of the disease-associated prion protein (PrPSc) and the M/V polymorphism at codon 129 of the PRNP gene correlates with the clinico-pathologic subtypes. Approximately 95% of the sporadic 129MM CJD pat

  18. MM2-Thalamic Creutzfeldt-Jacob Disease: Neuropathological, Biochemical and Transmission Studies Identify a Distinctive Prion Strain

    NARCIS (Netherlands)

    Moda, F.; Suardi, S.; Fede, Di G.; Indaco, A.; Limido, L.; Vimercati, C.; Ruggerone, M.; Campagnani, I.; Langeveld, J.P.M.; Terruzzi, A.; Brambilla, A.; Zerbi, P.; Fociani, P.; Bishop, T.; Will, G.W.; Manson, J.C.; Giaccone, G.; Tagliavini, F.

    2012-01-01

    In CreutzfeldtJakob disease (CJD), molecular typing based on the size of the protease resistant core of the disease-associated prion protein (PrPSc) and the M/V polymorphism at codon 129 of the PRNP gene correlates with the clinico-pathologic subtypes. Approximately 95% of the sporadic 129MM CJD

  19. Metabolic patterns in prion diseases: an FDG PET voxel-based analysis

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    Prieto, Elena; Dominguez-Prado, Ines; Jesus Ribelles, Maria; Arbizu, Javier [Clinica Universidad de Navarra, Nuclear Medicine Department, Pamplona (Spain); Riverol, Mario; Ortega-Cubero, Sara; Rosario Luquin, Maria; Castro, Purificacion de [Clinica Universidad de Navarra, Neurology Department, Pamplona (Spain)

    2015-09-15

    Clinical diagnosis of human prion diseases can be challenging since symptoms are common to other disorders associated with rapidly progressive dementia. In this context, {sup 18}F-fluorodeoxyglucose (FDG) positron emission tomography (PET) might be a useful complementary tool. The aim of this study was to determine the metabolic pattern in human prion diseases, particularly sporadic Creutzfeldt-Jakob disease (sCJD), the new variant of Creutzfeldt-Jakob disease (vCJD) and fatal familial insomnia (FFI). We retrospectively studied 17 patients with a definitive, probable or possible prion disease who underwent FDG PET in our institution. Of these patients, 12 were diagnosed as sCJD (9 definitive, 2 probable and 1 possible), 1 was diagnosed as definitive vCJD and 4 were diagnosed as definitive FFI. The hypometabolic pattern of each individual and comparisons across the groups of subjects (control subjects, sCJD and FFI) were evaluated using a voxel-based analysis. The sCJD group exhibited a pattern of hypometabolism that affected both subcortical (bilateral caudate, thalamus) and cortical (frontal cortex) structures, while the FFI group only presented a slight hypometabolism in the thalamus. Individual analysis demonstrated a considerable variability of metabolic patterns among patients, with the thalamus and basal ganglia the most frequently affected areas, combined in some cases with frontal and temporal hypometabolism. Patients with a prion disease exhibit a characteristic pattern of brain metabolism presentation in FDG PET imaging. Consequently, in patients with rapidly progressive cognitive impairment, the detection of these patterns in the FDG PET study could orient the diagnosis to a prion disease. (orig.)

  20. Chronic wasting disease and atypical forms of BSE and scrapie are not transmissible to mice expressing wild-type levels of human PrP

    Science.gov (United States)

    The association between bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (vCJD) has demonstrated that cattle TSEs can pose a risk to human health and raises the possibility that other ruminant TSEs may be transmissible to humans. In recent years, several new TSEs in shee...

  1. Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease.

    Science.gov (United States)

    Jammoul, Adham; Lederman, Richard J; Tavee, Jinny; Li, Yuebing

    2014-06-05

    Voltage-gated potassium channel (VGKC) complex antibody-mediated encephalitis is a recently recognised entity which has been reported to mimic the clinical presentation of Creutzfeldt-Jakob disease (CJD). Testing for the presence of this neuronal surface autoantibody in patients presenting with subacute encephalopathy is therefore crucial as it may both revoke the bleak diagnosis of prion disease and allow institution of potentially life-saving immunotherapy. Tempering this optimistic view is the rare instance when a positive VGKC complex antibody titre occurs in a definite case of prion disease. We present a pathologically and genetically confirmed case of CJD with elevated serum VGKC complex antibody titres. This case highlights the importance of interpreting the result of a positive VGKC complex antibody with caution and in the context of the overall clinical manifestation.

  2. Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series

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    Ye Jing

    2008-10-01

    Full Text Available Abstract Introduction Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. Case presentation A 47-year-old Han-Chinese woman was hospitalized with a 2-year history of progressive dementia, tiredness, lethargy and mild difficulty in falling asleep. On neurological examination, there was severe apathy, spontaneous myoclonus of the lower limbs, generalized hyperreflexia and bilateral Babinski signs. A missense mutation (T to G was identified at the position of nt 341 in one PRNP allele, leading to a change from glycine (Gly to valine (Val at codon 114. PK-resistant PrPSc was detected in brain tissues by Western blotting and immunohistochemical assays. Information on pedigree was collected notably by interviews with family members. A further four suspected patients in five consecutive generations of the family have been identified. One of them was hospitalized for progressive memory impairment at the age of 32. On examination, he had impairment of memory, calculation and comprehension, mild ataxia of the limbs, tremor and a left Babinski sign. He is still alive. Conclusion This family with G114V inherited prion disease is the first to be described in China and represents the second family worldwide in which this mutation has been identified. Three other suspected cases have been retrospectively identified in this family, and a further case with suggestive clinical manifestations has been shown by gene sequencing to have the causal mutation.

  3. Estudo retrospectivo da doença de Creutzfeldt-Jakob diagnosticada no norte de Portugal entre 1993-2002: características demográficas, clínicas e neuropatológicas

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    Silva Ana Martins

    2003-01-01

    Full Text Available INTRODUÇÃO E OBJETIVO: Descrição das características demográficas, clinicas e neuropatológicas de 11 doentes com doença de Creutzfeldt-Jakob (DCJ. MÉTODO: Revisão clínica e neuropatológica de doentes com DCJ diagnosticados entre 1993 e 2002 em hospitais do Norte de Portugal. RESULTADOS: Foram identificados 11 doentes (4 do sexo feminino; idade média de início dos sintomas, 64 anos; média de duração da doença, 8 meses. Todos apresentaram síndrome demencial progressiva associada a mioclonias, sendo a síndrome cerebelar a forma de apresentação inicial em quatro deles. O estudo neuropatológico revelou sempre espongiose e gliose reativa associada a perda neuronal. O estudo imunocitoquímico para proteína priônica (PrP foi positivo nos oito casos em que foi executado. CONCLUSÃO: O grupo de doentes descritos constitui uma série clinica representativa da heterogeneidade de fenótipos possíveis da DCJ esporádica. O estudo neuropatológico é ainda indispensável para o diagnóstico definitivo da doença.

  4. [From the Scrapie syndrome of sheep and goat to the mad cow disease - the history of the discovery of prion].

    Science.gov (United States)

    Liu, Rui; Weng, Yi

    2009-05-01

    Since the discovery of Scrapie Syndrome in sheep and goats in 1730, there emerged a series of diseases such as Creutzfeldt-Jakob disease, kuru disease and mad cow disease etc. In the research of kuru disease, the American scientist D. Carlteton Gajdusek found a new virus without the characteristic of DNA and RNA, which was awarded the Nobel Prize in physiology in 1976. Since then another American scientist, Stanley B. Prusiner, found a new virus-prion, taking protein as the genetic medium, which was awarded the Nobel prize in physiology and medicine in 1997. The discovery of prion is a great landmark in the research of life science, which laid a theoretical foundation for people to conquer a series of diseases such as Scrapie syndrome in sheep and goats, Creutzfeldt-Jakob disease, kuru disease and mad cow disease etc.

  5. Infectious prion diseases in humans: cannibalism, iatrogenicity and zoonoses.

    Science.gov (United States)

    Haïk, Stéphane; Brandel, Jean-Philippe

    2014-08-01

    In contrast with other neurodegenerative disorders associated to protein misfolding, human prion diseases include infectious forms (also called transmitted forms) such as kuru, iatrogenic Creutzfeldt-Jakob disease and variant Creutzfeldt-Jakob disease. The transmissible agent is thought to be solely composed of the abnormal isoform (PrP(Sc)) of the host-encoded prion protein that accumulated in the central nervous system of affected individuals. Compared to its normal counterpart, PrP(Sc) is β-sheet enriched and aggregated and its propagation is based on an autocatalytic conversion process. Increasing evidence supports the view that conformational variations of PrP(Sc) encoded the biological properties of the various prion strains that have been isolated by transmission studies in experimental models. Infectious forms of human prion diseases played a pivotal role in the emergence of the prion concept and in the characterization of the very unconventional properties of prions. They provide a unique model to understand how prion strains are selected and propagate in humans. Here, we review and discuss how genetic factors interplay with strain properties and route of transmission to influence disease susceptibility, incubation period and phenotypic expression in the light of the kuru epidemics due to ritual endocannibalism, the various series iatrogenic diseases secondary to extractive growth hormone treatment or dura mater graft and the epidemics of variant Creutzfeldt-Jakob disease linked to dietary exposure to the agent of bovine spongiform encephalopathy.

  6. Normal Pressure Hydrocephalus

    Science.gov (United States)

    ... similar to those of other disorders such as Alzheimer's disease, Parkinson's disease, and Creutzfeldt-Jakob disease, the disorder is ... similar to those of other disorders such as Alzheimer's disease, Parkinson's disease, and Creutzfeldt-Jakob disease, the disorder is ...

  7. Epigenetic Treatment of Neurodegenerative Disorders: Alzheimer and Parkinson Diseases.

    Science.gov (United States)

    Irwin, Michael H; Moos, Walter H; Faller, Douglas V; Steliou, Kosta; Pinkert, Carl A

    2016-05-01

    Preclinical Research In this review, we discuss epigenetic-driven methods for treating neurodegenerative disorders associated with mitochondrial dysfunction, focusing on carnitinoid antioxidant-histone deacetylase inhibitors that show an ability to reinvigorate synaptic plasticity and protect against neuromotor decline in vivo. Aging remains a major risk factor in patients who progress to dementia, a clinical syndrome typified by decreased mental capacity, including impairments in memory, language skills, and executive function. Energy metabolism and mitochondrial dysfunction are viewed as determinants in the aging process that may afford therapeutic targets for a host of disease conditions, the brain being primary in such thinking. Mitochondrial dysfunction is a core feature in the pathophysiology of both Alzheimer and Parkinson diseases and rare mitochondrial diseases. The potential of new therapies in this area extends to glaucoma and other ophthalmic disorders, migraine, Creutzfeldt-Jakob disease, post-traumatic stress disorder, systemic exertion intolerance disease, and chemotherapy-induced cognitive impairment. An emerging and hopefully more promising approach to addressing these hard-to-treat diseases leverages their sensitivity to activation of master regulators of antioxidant and cytoprotective genes, antioxidant response elements, and mitophagy. Drug Dev Res 77 : 109-123, 2016. © 2016 Wiley Periodicals, Inc.

  8. Small-Molecule Theranostic Probes: A Promising Future in Neurodegenerative Diseases

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    Suzana Aulić

    2013-01-01

    Full Text Available Prion diseases are fatal neurodegenerative illnesses, which include Creutzfeldt-Jakob disease in humans and scrapie, chronic wasting disease, and bovine spongiform encephalopathy in animals. They are caused by unconventional infectious agents consisting primarily of misfolded, aggregated, β-sheet-rich isoforms, denoted prions, of the physiological cellular prion protein (PrPC. Many lines of evidence suggest that prions (PrPSc act both as a template for this conversion and as a neurotoxic agent causing neuronal dysfunction and cell death. As such, PrPSc may be considered as both a neuropathological hallmark of the disease and a therapeutic target. Several diagnostic imaging probes have been developed to monitor cerebral amyloid lesions in patients with neurodegenerative disorders (such as Alzheimer’s disease, Parkinson’s disease, and prion disease. Examples of these probes are Congo red, thioflavin T, and their derivatives. We synthesized a series of styryl derivatives, denoted theranostics, and studied their therapeutic and/or diagnostic potentials. Here we review the salient traits of these small molecules that are able to detect and modulate aggregated forms of several proteins involved in protein misfolding diseases. We then highlight the importance of further studies for their practical implications in therapy and diagnostics.

  9. Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

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    Nitrini Ricardo

    2001-01-01

    Full Text Available OBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17. BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD, the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. METHOD: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean age at onset was 44.0 ± 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. CONCLUSION: These clinical features bear a considerable resemblance to those described in FTDP-17.

  10. Phosphatidylinositol-glycan-phospholipase D is involved in neurodegeneration in prion disease.

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    Jae-Kwang Jin

    Full Text Available PrPSc is formed from a normal glycosylphosphatidylinositol (GPI-anchored prion protein (PrPC by a posttranslational modification. Most GPI-anchored proteins have been shown to be cleaved by GPI phospholipases. Recently, GPI-phospholipase D (GPI-PLD was shown to be a strictly specific enzyme for GPI anchors. To investigate the involvement of GPI-PLD in the processes of neurodegeneration in prion diseases, we examined the mRNA and protein expression levels of GPI-PLD in the brains of a prion animal model (scrapie, and in both the brains and cerebrospinal fluids (CSF of sporadic and familial Creutzfeldt-Jakob disease (CJD patients. We found that compared with controls, the expression of GPI-PLD was dramatically down-regulated in the brains of scrapie-infected mice, especially in the caveolin-enriched membrane fractions. Interestingly, the observed decrease in GPI-PLD expression levels began at the same time that PrPSc began to accumulate in the infected brains and this decrease was also observed in both the brain and CSF of CJD patients; however, no differences in expression were observed in either the brains or CSF specimens from Alzheimer's disease patients. Taken together, these results suggest that the down-regulation of GPI-PLD protein may be involved in prion propagation in the brains of prion diseases.

  11. Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Waldman, A.D.; Cordery, R.J.; Godbolt, A.; Rossor, M.N. [University College London, Dementia Research Group, Department of Neurodegenerative Disease, Institute of Neurology, London (United Kingdom); Imperial College of Science, Technology and Medicine, Division of Neuroscience and Psychological Medicine, Faculty of Medicine, London (United Kingdom); MacManus, D.G. [University College London, NMR Research Unit, Department of Clinical Neurology, Institute of Neurology, London (United Kingdom); Collinge, J. [University College London, MRC Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, London (United Kingdom)

    2006-06-15

    Inherited prion diseases are caused by mutations in the gene which codes for prion protein (PrP), leading to proliferation of abnormal PrP isomers in the brain and neurodegeneration; they include Gerstmann-Straeussler-Scheinker disease (GSS), fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). We studied two patients with symptomatic inherited prion disease (P102L) and two pre-symptomatic P102L gene carriers using quantitative magnetic resonance spectroscopy (MRS). Short echo time spectra were acquired from the thalamus, caudate region and frontal white matter, metabolite levels and ratios were measured and z-scores calculated for individual patients relative to age-matched normal controls. MRS data were compared with structural magnetic resonance imaging. One fCJD case had generalised atrophy and showed increased levels of myo-inositol (MI) in the thalamus (z=3.7). The other had decreased levels of N-acetylaspartate (z=4) and diffuse signal abnormality in the frontal white matter. Both asymptomatic gene carriers had normal imaging, but increased frontal white matter MI (z=4.3, 4.1), and one also had increased MI in the caudate (z=5.3). Isolated MI abnormalities in asymptomatic gene carriers are a novel finding and may reflect early glial proliferation, prior to significant neuronal damage. MRS provides potential non-invasive surrogate markers of early disease and progression in inherited prion disease. (orig.)

  12. Increased oxidation, glycoxidation, and lipoxidation of brain proteins in prion disease.

    Science.gov (United States)

    Pamplona, Reinald; Naudí, Alba; Gavín, Rosalina; Pastrana, Miguel A; Sajnani, Gustavo; Ilieva, Ekaterina V; Del Río, José Antonio; Portero-Otín, Manuel; Ferrer, Isidre; Requena, Jesús R

    2008-10-15

    The basic molecular underpinnings of the pathological changes that unfold in prion disease remain elusive. A key role of increased oxidative stress has been hypothesized. Given the transient nature of most intermediate molecules implicated, increased oxidative stress is better assessed by quantitating the damage it causes to macromolecules. We used mass spectrometry-based methods to measure specific products of protein oxidation, glycoxidation, and lipoxidation in brains from patients suffering from Creutzfeldt-Jakob disease and Syrian hamsters affected by scrapie. In both cases, increased amounts of glutamic and aminoadipic semialdehydes, products of metal-catalyzed oxidation, malondialdehydelysine (a product of lipoxidation), N-epsilon-carboxyethyllysine (a product of glycoxidation), and N-epsilon-carboxymethyllysine (generated by lipoxidation and glycoxidation) were measured. PrP(Sc), the infectious isoform of the prion protein that accumulates in prion disease, was itself shown to be a target of increased oxidative modification. These changes were accompanied by alterations in fatty acid composition and increased phosphorylation of ERK(1/2) and p38, protein kinases known to respond to increased flows of ROS. These data support an important role of oxidative damage in the pathology of prion disease.

  13. The epsilon isoform of 14-3-3 protein is a component of the prion protein amyloid deposits of Gerstmann-Sträussler-Scheinker disease.

    Science.gov (United States)

    Di Fede, Giuseppe; Giaccone, Giorgio; Limido, Lucia; Mangieri, Michela; Suardi, Silvia; Puoti, Gianfranco; Morbin, Michela; Mazzoleni, Giulia; Ghetti, Bernardino; Tagliavini, Fabrizio

    2007-02-01

    The 14-3-3 proteins are highly conserved, ubiquitous molecules involved in a variety of biologic events, such as transduction pathway modulation, cell cycle control, and apoptosis. Seven isoforms have been identified that are abundant in the brain, preferentially localized in neurons. Remarkable increases in 14-3-3 are seen in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease (CJD), and it has been found in pathologic inclusions of several neurodegenerative diseases. Moreover, the zeta isoform has been detected in prion protein (PrP) amyloid deposits of CJD patients. To further investigate the cerebral distribution of 14-3-3 in prion-related encephalopathies, we carried out an immunohistochemical and biochemical analysis of brain tissue from patients with Gerstmann-Sträussler-Scheinker disease (GSS) and sporadic, familial and acquired forms of CJD, using specific antibodies against the seven 14-3-3 isoforms. The study showed a strong immunoreactivity of PrP amyloid plaques of GSS patients for the 14-3-3 epsilon isoform, but not for the other isoforms. The epsilon isoform of 14-3-3 was not found in PrP deposits of CJD. These results indicate that the epsilon isoform of 14-3-3 is a component of PrP amyloid deposits of GSS and suggest that this is the sole 14-3-3 isoform specifically involved in the neuropathologic changes associated with this disorder.

  14. Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease

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    Jerusa Smid

    2013-07-01

    Full Text Available Interaction of prion protein and amyloid-b oligomers has been demonstrated recently. Homozygosity at prion protein gene (PRNP codon 129 is associated with higher risk for Creutzfeldt-Jakob disease. This polymorphism has been addressed as a possible risk factor in Alzheimer disease (AD. Objective To describe the association between codon 129 polymorphisms and AD. Methods We investigated the association of codon 129 polymorphism of PRNP in 99 AD patients and 111 controls, and the association between this polymorphism and cognitive performance. Other polymorphisms of PRNP and additive effect of apolipoprotein E gene (ApoE were evaluated. Results Codon 129 genotype distribution in AD 45.5% methionine (MM, 42.2% methionine valine (MV, 12.1% valine (VV; and 39.6% MM, 50.5% MV, 9.9% VV among controls (p>0.05. There were no differences of cognitive performance concerning codon 129. Stratification according to ApoE genotype did not reveal difference between groups. Conclusion Codon 129 polymorphism is not a risk factor for AD in Brazilian patients.

  15. Application of Atomic Dielectric Resonance Spectroscopy for the screening of blood samples from patients with clinical variant and sporadic CJD

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    Ironside James W

    2007-08-01

    Full Text Available Abstract Background Sub-clinical variant Creutzfeldt-Jakob disease (vCJD infection and reports of vCJD transmission through blood transfusion emphasise the need for blood screening assays to ensure the safety of blood and transplanted tissues. Most assays aim to detect abnormal prion protein (PrPSc, although achieving required sensitivity is a challenge. Methods We have used innovative Atomic Dielectric Resonance Spectroscopy (ADRS, which determines dielectric properties of materials which are established by reflectivity and penetration of radio/micro waves, to analyse blood samples from patients and controls to identify characteristic ADR signatures unique to blood from vCJD and to sCJD patients. Initial sets of blood samples from vCJD, sCJD, non-CJD neurological diseases and normal healthy adults (blood donors were screened as training samples to determine group-specific ADR characteristics, and provided a basis for classification of blinded sets of samples. Results Blood sample groups from vCJD, sCJD, non-CJD neurological diseases and normal healthy adults (blood donors screened by ADRS were classified with 100% specificity and sensitivity, discriminating these by a co-variance expert analysis system. Conclusion ADRS appears capable of recognising and discriminating serum samples from vCJD, sCJD, non-CJD neurological diseases, and normal healthy adults, and might be developed to provide a system for primary screening or confirmatory assay complementary to other screening systems.

  16. Iron: the Redox-active center of oxidative stress in Alzheimer disease.

    Science.gov (United States)

    Castellani, Rudy J; Moreira, Paula I; Liu, Gang; Dobson, Jon; Perry, George; Smith, Mark A; Zhu, Xiongwei

    2007-10-01

    Although iron is essential in maintaining the function of the central nervous system, it is a potent source of reactive oxygen species. Excessive iron accumulation occurs in many neurodegenerative diseases including Alzheimer disease (AD), Parkinson's disease, and Creutzfeldt-Jakob disease, raising the possibility that oxidative stress is intimately involved in the neurodegenerative process. AD in particular is associated with accumulation of numerous markers of oxidative stress; moreover, oxidative stress has been shown to precede hallmark neuropathological lesions early in the disease process, and such lesions, once present, further accumulate iron, among other markers of oxidative stress. In this review, we discuss the role of iron in the progression of AD.

  17. Expression of human S100 protein and preparation of specific antiserum for S100 and establishment of a quantitative measurement for S100 protein in CSF specimens of patients with Creutzfeldt-Jakob disease%人S100蛋白的表达及其抗血清的制备和脑脊液中S100含量测定方法的建立

    Institute of Scientific and Technical Information of China (English)

    张福萍; 张瑾; 周伟; 董小平; 洪涛

    2002-01-01

    目的建立定量检测脑脊液(CSF)及血清中S100蛋白的方法,探讨S100蛋白的检测在辅助诊断克-雅病(CJD)中的应用.方法利用脑cDNA文库,经PCR获得了S100基因并克隆至原核表达载体pGEX-2T上,在大肠埃希菌中表达了谷胱甘肽-S-转移酶(GST)-S100融合蛋白;融合蛋白经亲和纯化后,免疫家兔,制备抗体;抗体经纯化后,用生物素(BNHS)标记,建立了可定量检测S100蛋白的生物素-亲和素系统ELISA方法,并初步用于临床脑脊液的检测中.结果所表达的GST-S100蛋白相对分子质量约为35 000,以其为抗原制备的S100特异性抗血清具有良好的免疫反应性.建立了定量检测脑脊液中S100蛋白的双抗体夹心ELISA方法,对3例"可能性的CJD"患者(14-3-3蛋白阳性)和15例无痴呆症状患者脑脊液进行检测,结果显示,3例CJD患者脑脊液S100含量均超过2.900 μg/L,而在无痴呆症状患者组中14例患者脑脊液S100含量都低于0.180 μg/L.对正常人和CJD患者血清进行检测,显示S100蛋白含量个体间差异很大.结论所建立的方法可用于脑脊液中S100蛋白的检测,进一步扩大标本量有助于明确脑脊液中S100蛋白的检测在辅助诊断CJD中的价值.

  18. Study on the characteristics of patients with Creutzfeld-Jakob disease in Shaanxi Province, 2006-2010%2006-2010年陕西省克雅氏病监测病例特征分析

    Institute of Scientific and Technical Information of China (English)

    王丽; 董建华; 史伟; 李慎; 魏菁; 郑媛; 王敬军; 余鹏博

    2016-01-01

    Objective To describe the epidemiological and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in Shaanxi Province.Methods Clinical and epidemical data on 42 suspected CJD patients from clinical hospitals in Shaanxi from 2006 to 2010 was analyzed.42 blood samples,41 cerebral spinal fluid (CSF) specimens and 1 brain tissue from these patients were collected.Western blot assay was used to detect PrPsc in brain tissue and 14-3-3 protein in CSF.PCR and sequencing were used for analyzing the polymorphism of 129 amino acids and mutation of PRNP gene.Results A total number of 18 probable and three possible sporadic CJD patients,two familial CJD cases were identified.No geographic-or occupational-related events were observed among these cases.The mean age of onset was 55.9 years old,the fender ratio was 1.25 ∶ 1.Rapid progressive dementia was the main symptom,presenting in 34.78 percent of the CJD patients.Conclusions This report indicates that the main type of CJD in Shaanxi Province is sporadic CJD with its distinctive characteristics including geography distribution,occupation,gender ratio and the average of onset.Follow-up visits to probable and possible CJD patients may contribute to a proper diagnosis.%目的 了解陕西省克雅氏病(Creutzfeldt-Jakob disease,CJD)的发病情况、临床表现及流行病学特征.方法 对2006-2010年陕西省临床医院报告的42例可疑CJD病例的临床及流行病学资料进行分析,收集了42份血液标本、41份脑脊液及1份脑组织样品,利用免疫印迹(western blot,WB)方法检测脑组织的异常折叠朊蛋白(prion protein scrapie,PrPsc)和脑脊液的14-3-3蛋白,提取全血基因组DNA并利用聚合酶链式反应(polymerase chain reaction,PCR)及测序方法对血液中朊蛋白(Prion protein,PRNP或PrP)基因进行129位多态性及基因突变分析.结果 共发现散发型CJD临床诊断病例18例,疑似诊断病例3例,家族型CJD 2例.病例的地理分布和职业无明显

  19. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

    Science.gov (United States)

    Sassi, Celeste; Guerreiro, Rita; Gibbs, Raphael; Ding, Jinhui; Lupton, Michelle K.; Troakes, Claire; Al-Sarraj, Safa; Niblock, Michael; Gallo, Jean-Marc; Adnan, Jihad; Killick, Richard; Brown, Kristelle S.; Medway, Christopher; Lord, Jenny; Turton, James; Bras, Jose; Morgan, Kevin; Powell, John F.; Singleton, Andrew; Hardy, John

    2014-01-01

    The overlapping clinical and neuropathologic features between late-onset apparently sporadic Alzheimer's disease (LOAD), familial Alzheimer's disease (FAD), and other neurodegenerative dementias (frontotemporal dementia, corticobasal degeneration, progressive supranuclear palsy, and Creutzfeldt-Jakob disease) raise the question of whether shared genetic risk factors may explain the similar phenotype among these disparate disorders. To investigate this intriguing hypothesis, we analyzed rare coding variability in 6 Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP), in 141 LOAD patients and 179 elderly controls, neuropathologically proven, from the UK. In our cohort, 14 LOAD cases (10%) and 11 controls (6%) carry at least 1 rare variant in the genes studied. We report a novel variant in PSEN1 (p.I168T) and a rare variant in PSEN2 (p.A237V), absent in controls and both likely pathogenic. Our findings support previous studies, suggesting that (1) rare coding variability in PSEN1 and PSEN2 may influence the susceptibility for LOAD and (2) GRN, MAPT, and PRNP are not major contributors to LOAD. Thus, genetic screening is pivotal for the clinical differential diagnosis of these neurodegenerative dementias. PMID:25104557

  20. Comparative peptidome analyses of the profiles of the peptides ranging from 1-10 KD in CSF samples pooled from probable sporadic CJD and non-CJD patients.

    Science.gov (United States)

    Chen, Cao; Xiao, Di; Zhou, Wei; Zhang, Yong-Chan; Shi, Qi; Tian, Chan; Zhang, Jin; Zhou, Chun-Xi; Zhang, Jian-Zhong; Dong, Xiao-Ping

    2012-01-01

    The shotgun strategy applying tandem mass spectrometry has been widely used to identify the proteins that are differentially distributed among diseases for its high reliability and efficiency. To find out the potential difference of protein profiles in cerebrospinal fluids (CSF) between Creutzfeldt-Jakob disease (CJD) and non-CJD patients, especially in the fraction ranging from 1-10 KD, the CSF samples of 40 probable sporadic CJD (sCJD) patients, 32 non-CJD cases with dementia and 17 non-CJD cases without dementia were separately pooled and enriched by the magnetic beads based weak cation exchange chromatography (MB-WCX). After trypsin digestion, each enriched CSF was separated and identified by RP-HPLC-ESI-QTOF MS/MS. In total, 42, 53 and 47 signals of proteins were identified in the pooled CSF fraction less than 10 KD of probable sCJD, non-CJD with dementia and non-CJD without dementia, respectively. Compared with that of probable sCJD, the similarity of CSF protein profiles of non-CJD with dementia (76.2%) were higher than that of non-CJD without dementia (57.1%). Nine CSF proteins were found to be specially observed in probable sCJD group. Those data may help to select the potential biomarkers for diagnosis of CJD. Additionally, further studies of the small segments of cellular proteins in CSF of CJD patients may also provide scientific clues for understanding the neuropathogenesis of TSEs.

  1. Prion Disease Induces Alzheimer Disease-Like Neuropathologic Changes

    Science.gov (United States)

    Tousseyn, Thomas; Bajsarowicz, Krystyna; Sánchez, Henry; Gheyara, Ania; Oehler, Abby; Geschwind, Michael; DeArmond, Bernadette; DeArmond, Stephen J.

    2016-01-01

    We examined the brains of 266 patients with prion diseases (PrionD) and found that 46 (17%) had Alzheimer disease (AD)-like changes. To explore potential mechanistic links between PrionD and AD, we exposed human brain aggregates (Hu BrnAggs) to brain homogenate from a patient with sporadic Creutzfeldt-Jakob disease (CJD) and found that the neurons in the Hu BrnAggs produced many β-amyloid (β42) inclusions, whereas uninfected, control-exposed Hu BrnAggs did not. Western blots of 20-pooled CJD-infected BrnAggs verified higher Aβ42 levels than controls. We next examined the CA1 region of the hippocampus from 14 patients with PrionD and found that 5 patients had low levels of scrapie-associated prion protein (PrPSc), many Aβ42 intraneuronal inclusions, low APOE-4, and no significant nerve cell loss. Seven patients had high levels of PrPSc, low Aβ42, high APOE-4 and 40% nerve cell loss, suggesting that APOE-4 and PrPSc together cause neuron loss in PrionD. There were also increased levels of hyperphosphorylated tau protein (Hτ) and Hτ-positive neuropil threads and neuron bodies in both PrionD and AD groups. The brains of 6 age-matched control patients without dementia did not contain Aβ42 deposits; however, there were rare Hτ-positive threads in 5 controls and 2 controls had a few Hτ-positive nerve cell bodies. We conclude that PrionD may trigger biochemical changes similar to AD and suggest that PrionD are diseases of PrPSc, Aβ42, APOE-4 and abnormal tau. PMID:26226132

  2. [Investigation of the clinical course and treatment of prion disease patients in the akinetic mutism state in Japan].

    Science.gov (United States)

    Iwasaki, Yasushi; Mori, Keiko; Ito, Masumi

    2012-01-01

    Twelve cases (one Gerstmann-Sträussler-Scheinker syndrome (P102L; definite), one genetic Creutzfeldt-Jakob disease (CJD) (V180I; definite) and ten sporadic CJD (7 MM1-type definite, 3 probable)), who reached the akinetic mutism state, were investigated with regard to their clinical course and treatment. They were hospitalized for a total of 3,968 days in the akinetic mutism state. In the nine definite cases, the median period from the akinetic mutism state to death was 22 months (average: 27.0 ± 23.3 months, range: 3-80 months) and median total disease duration was 27 months (average: 34.2 ± 30.1 months, range: 5-102 months). In the seven definite sporadic CJD cases, the median period from akinetic mutism to death was 21 months (average: 17.0 ± 9.6 months, range 3-28 months), and median total disease duration was 24 months (average: 20.6 ± 10.0 months, range: 5-31 months). Nasal-tube feeding was performed in all cases. Symptomatic treatments such as parenteral nutrition and antibiotic drugs were administered for complications such as respitory and urinary tract infections and digestive symptoms. Patients received rehabilitation and hot spring therapy regularly until death. Gastrostomy and/or tracheotomy was not performed in any case, the patients were not intubated nor was mechanical ventilation (including non-invasive positive pressure ventilation) applied. Vasoactive drugs were not administered. Clonazepam was administered for myoclonus in four patients but not in another three when myoclonus appeared. It is unclear whether the treatment influenced the duration of myoclonus. Our observations indicate that the extended survival period among Japanese prion disease patients is likely due to the management procedures implemented for prion disease in Japan, which are usually continued after the patients reach the akinetic mutism state. We speculate that nasal-tube feeding is the crucial factor that results in the prolonged disease duration of prion disease

  3. Therapy in prion diseases.

    Science.gov (United States)

    Forloni, Gianluigi; Artuso, Vladimiro; Roiter, Ignazio; Morbin, Michela; Tagliavini, Fabrizio

    2013-01-01

    In the last two decades, knowledge of the neurobiology of prion diseases or transmissible spongiform encephalopathies (TSE) has significantly advanced, but a successful therapy to stop or delay the progression of these disorders remains one of the most challenging goals of biomedical research. Several obstacles to this achievement are in common with other neurodegenerative disorders: difficulties to move from experimental level to clinical stage; appropriate timing of intervention; correct set up of clinical trial. Also in terms of molecular bases of disease, TSE and the other neurodegenerative disorders associated with protein misfolding such as Alzheimer, Parkinson and Huntington diseases, share a central pathogenic role of soluble small aggregates, named oligomers, considered the culprit of neuronal dysfunction: accordingly, these disorders could by termed oligomeropathies. However, the rapid progression of TSE, together with their clinical and molecular heterogeneity, make the therapeutic approach particularly problematic. The main target of the antiprion strategy has been the pathological form of the cellular prion protein (PrP(C)) termed PrP(Sc), invariably associated with the diseases. Several compounds have been found to affect PrP(Sc) formation or enhance its clearance in in vitro models, and prolong survival in experimental animals. However, few of them such as quinacrine and pentosan polysulfate have reached the clinical evaluation; more recently, we have conducted a clinical trial with doxycycline in patients with Creutzfeldt-Jakob disease without satisfactory results. In experimental conditions, active and passive immunization with antibodies against PrP and mucosal vaccination have shown to protect from peripheral infection. Other studies have proposed new potentially effective molecules targeting PrP oligomers. Furthermore, the possibility to interfere with PrP(C) to PrP(Sc) conversion by an active control of PrP(C) is another interesting approach

  4. Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

    OpenAIRE

    1991-01-01

    The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome allows presymptomatic diagnosis or exclusion of these disorders in subjects at risk. After counseling, PrP gene analysis was performed in three such individuals: two from families with a 144-bp insert and one with a point mutation at codon 102 in the PrP gene. The presence of a PrP gene defect was confirmed in one and excluded in two. Despite the ...

  5. A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report

    Directory of Open Access Journals (Sweden)

    Bilbao Miren J

    2010-10-01

    Full Text Available Abstract Background Sporadic Creutzfeldt-Jakob disease (sCJD is a rare neurodegenerative disorder in humans included in the group of Transmissible Spongiform Encephalopathies or prion diseases. The vast majority of sCJD cases are molecularly classified according to the abnormal prion protein (PrPSc conformations along with polymorphism of codon 129 of the PRNP gene. Recently, a novel human disease, termed "protease-sensitive prionopathy", has been described. This disease shows a distinct clinical and neuropathological phenotype and it is associated to an abnormal prion protein more sensitive to protease digestion. Case presentation We report the case of a 75-year-old-man who developed a clinical course and presented pathologic lesions compatible with sporadic Creutzfeldt-Jakob disease, and biochemical findings reminiscent of "protease-sensitive prionopathy". Neuropathological examinations revealed spongiform change mainly affecting the cerebral cortex, putamen/globus pallidus and thalamus, accompanied by mild astrocytosis and microgliosis, with slight involvement of the cerebellum. Confluent vacuoles were absent. Diffuse synaptic PrP deposits in these regions were largely removed following proteinase treatment. PrP deposition, as revealed with 3F4 and 1E4 antibodies, was markedly sensitive to pre-treatment with proteinase K. Molecular analysis of PrPSc showed an abnormal prion protein more sensitive to proteinase K digestion, with a five-band pattern of 28, 24, 21, 19, and 16 kDa, and three aglycosylated isoforms of 19, 16 and 6 kDa. This PrPSc was estimated to be 80% susceptible to digestion while the pathogenic prion protein associated with classical forms of sporadic Creutzfeldt-Jakob disease were only 2% (type VV2 and 23% (type MM1 susceptible. No mutations in the PRNP gene were found and genotype for codon 129 was heterozygous methionine/valine. Conclusions A novel form of human disease with abnormal prion protein sensitive to protease and

  6. The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

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    Qi Shi

    Full Text Available To identify the features of Chinese genetic prion diseases.Suspected Creutzfeldt-Jakob disease (CJD cases that were reported under CJD surveillance were diagnosed and subtyped using the diagnostic criteria issued by the WHO. The general information concerning the patient, their clinical, MRI and EEG data, and the results of CSF 14-3-3 and PRNP sequencing were carefully collected from the database of the national CJD surveillance program and analyzed using the SPSS 11.5 statistical software program.Since 2006, 69 patients were diagnosed with genetic prion diseases and as having 15 different mutations. The median age of the 69 patients at disease onset was 53.5 years, varying from 19 to 80 years. The majority of patients displaying clinical symptoms were in the 50-59 years of age. FFI, T188K gCJD and E200K were the three most common subtypes. The disease appeared in the family histories of 43.48% of the patients. The clinical manifestations varied considerably among the various diseases. Patients who carried mutations in the N-terminus displayed a younger age of onset, were CSF 14-3-3 negative, had a family history of the condition, and experienced a longer duration of the condition. The clinical courses of T188K were significantly shorter than those of FFI and E200K gCJD, while the symptoms in the FFI group appeared at a younger age and for a longer duration. Moreover, the time intervals between the initial neurologist visit to the final diagnosis were similar among patients with FFI, T188K gCJD, E200K gCJD and other diseases.The features of Chinese genetic prion diseases are different from those seen in Europe and other Asian countries.

  7. [Prion diseases].

    Science.gov (United States)

    Zarranz, J J

    2006-10-01

    Prion diseases are one of the paradigms of modern neurological nosology founded on molecular grounds. Their incidence is low, however the public health challenges derived from their transmissibility, especially due to the appearance of a variant of Creutzfeldt-Jakob disease (vCJD) confers them a preferential place among health care authority concerns. The evolution of data from the European surveillance systems suggests a generalized underdiagnosis of prion diseases and casts doubts about their ability to detect a possible second wave of atypical vCJD, especially if their clinical-pathological characteristics change. Recent data also challenge the feasibility of a subclassification of prion diseases according to their genetic-molecular features

  8. Human prion diseases: surgical lessons learned from iatrogenic prion transmission.

    Science.gov (United States)

    Bonda, David J; Manjila, Sunil; Mehndiratta, Prachi; Khan, Fahd; Miller, Benjamin R; Onwuzulike, Kaine; Puoti, Gianfranco; Cohen, Mark L; Schonberger, Lawrence B; Cali, Ignazio

    2016-07-01

    The human prion diseases, or transmissible spongiform encephalopathies, have captivated our imaginations since their discovery in the Fore linguistic group in Papua New Guinea in the 1950s. The mysterious and poorly understood "infectious protein" has become somewhat of a household name in many regions across the globe. From bovine spongiform encephalopathy (BSE), commonly identified as mad cow disease, to endocannibalism, media outlets have capitalized on these devastatingly fatal neurological conditions. Interestingly, since their discovery, there have been more than 492 incidents of iatrogenic transmission of prion diseases, largely resulting from prion-contaminated growth hormone and dura mater grafts. Although fewer than 9 cases of probable iatrogenic neurosurgical cases of Creutzfeldt-Jakob disease (CJD) have been reported worldwide, the likelihood of some missed cases and the potential for prion transmission by neurosurgery create considerable concern. Laboratory studies indicate that standard decontamination and sterilization procedures may be insufficient to completely remove infectivity from prion-contaminated instruments. In this unfortunate event, the instruments may transmit the prion disease to others. Much caution therefore should be taken in the absence of strong evidence against the presence of a prion disease in a neurosurgical patient. While the Centers for Disease Control and Prevention (CDC) and World Health Organization (WHO) have devised risk assessment and decontamination protocols for the prevention of iatrogenic transmission of the prion diseases, incidents of possible exposure to prions have unfortunately occurred in the United States. In this article, the authors outline the historical discoveries that led from kuru to the identification and isolation of the pathological prion proteins in addition to providing a brief description of human prion diseases and iatrogenic forms of CJD, a brief history of prion disease nosocomial transmission

  9. Molecular Pathology of Human Prion Diseases

    Directory of Open Access Journals (Sweden)

    2009-03-01

    Full Text Available Prion diseases are fatal neurodegenerative conditions in humans and animals. In this review, we summarize the molecular background of phenotypic variability, relation of prion protein (PrP to other proteins associated with neurodegenerative diseases, and pathogenesis of neuronal vulnerability. PrP exists in different forms that may be present in both diseased and non-diseased brain, however, abundant disease-associated PrP together with tissue pathology characterizes prion diseases and associates with transmissibility. Prion diseases have different etiological background with distinct pathogenesis and phenotype. Mutations of the prion protein gene are associated with genetic forms. The codon 129 polymorphism in combination with the Western blot pattern of PrP after proteinase K digestion serves as a basis for molecular subtyping of sporadic Creutzfeldt-Jakob disease. Tissue damage may result from several parallel, interacting or subsequent pathways that involve cellular systems associated with synapses, protein processing, oxidative stress, autophagy, and apoptosis.

  10. Highly Sensitive, Quantitative Cell-Based Assay for Prions Adsorbed to Solid Surfaces

    National Research Council Canada - National Science Library

    Julie Ann Edgeworth; Graham S. Jackson; Anthony R. Clarke; Charles Weissmann; John Collinge

    2009-01-01

    Prions are comprised principally of aggregates of a misfolded host protein and cause fatal transmissible neurodegenerative disorders of humans and animals, such as variant Creutzfeldt-Jakob disease...

  11. Neuroimaging Biomarkers of Neurodegenerative Diseases and Dementia

    Science.gov (United States)

    Risacher, Shannon L.; Saykin, Andrew J.

    2014-01-01

    Neurodegenerative disorders leading to dementia are common diseases that affect many older and some young adults. Neuroimaging methods are important tools for assessing and monitoring pathological brain changes associated with progressive neurodegenerative conditions. In this review, the authors describe key findings from neuroimaging studies (magnetic resonance imaging and radionucleotide imaging) in neurodegenerative disorders, including Alzheimer’s disease (AD) and prodromal stages, familial and atypical AD syndromes, frontotemporal dementia, amyotrophic lateral sclerosis with and without dementia, Parkinson’s disease with and without dementia, dementia with Lewy bodies, Huntington’s disease, multiple sclerosis, HIV-associated neurocognitive disorder, and prion protein associated diseases (i.e., Creutzfeldt-Jakob disease). The authors focus on neuroimaging findings of in vivo pathology in these disorders, as well as the potential for neuroimaging to provide useful information for differential diagnosis of neurodegenerative disorders. PMID:24234359

  12. Protease-resistant PrP and PrP oligomers in the brain in human prion diseases after intraventricular pentosan polysulfate infusion.

    Science.gov (United States)

    Honda, Hiroyuki; Sasaki, Kensuke; Minaki, Haruhiko; Masui, Kenta; Suzuki, Satoshi O; Doh-Ura, Katsumi; Iwaki, Toru

    2012-04-01

    Intraventricular infusion of pentosan polysulfate (PPS) as a treatment for various human prion diseases has been applied in Japan. To evaluate the influence of PPS treatment we performed pathological examination and biochemical analyses of PrP molecules in autopsied brains treated with PPS (one case of sporadic Creutzfeldt-Jakob disease (sCJD, case 1), two cases of dura mater graft-associated CJD (dCJD, cases 2 and 4), and one case of Gerstmann-Sträussler-Scheinker disease (GSS, case 3). Six cases of sCJD without PPS treatment were examined for comparison. Protease-resistant PrP (PrP(res) ) in the frontal lobe was evaluated by Western blotting after proteinase K digestion. Further, the degree of polymerization of PrP molecules was examined by the size-exclusion gel chromatography assay. PPS infusions were started 3-10 months after disease onset, but the treatment did not achieve any clinical improvements. Postmortem examinations of the treated cases revealed symmetrical brain lesions, including neuronal loss, spongiform change and gliosis. Noteworthy was GFAP in the cortical astrocytes reduced in all treated cases despite astrogliosis. Immunohistochemistry for PrP revealed abnormal synaptic deposits in all treated cases and further plaque-type PrP deposition in case 3 of GSS and case 4 of dCJD. Western blotting showed relatively low ratios of PrP(res) in case 2 of dCJD and case 3 of GSS, while in the treated sCJD (case 1), the ratio of PrP(res) was comparable with untreated cases. The indices of oligomeric PrP were reduced in one sCJD (case 1) and one dCJD (case 2). Although intraventricular PPS infusion might modify the accumulation of PrP oligomers in the brains of patients with prion diseases, the therapeutic effects are still uncertain.

  13. Remarkable reduction of MAP2 in the brains of scrapie-infected rodents and human prion disease possibly correlated with the increase of calpain.

    Directory of Open Access Journals (Sweden)

    Yan Guo

    Full Text Available Microtubule-associated protein 2 (MAP2 belongs to the family of heat stable MAPs, which takes part in neuronal morphogenesis, maintenance of cellular architecture and internal organization, cell division and cellular processes. To obtain insight into the possible alteration and the role of MAP2 in transmissible spongiform encephalopathies (TSEs, the MAP2 levels in the brain tissues of agent 263K-infected hamsters and human prion diseases were evaluated. Western blots and IHC revealed that at the terminal stages of the diseases, MAP2 levels in the brain tissues of scrapie infected hamsters, a patient with genetic Creutzfeldt-Jakob disease (G114V gCJD and a patient with fatal familial insomnia (FFI were almost undetectable. The decline of MAP2 was closely related with prolonged incubation time. Exposure of SK-N-SH neuroblastoma cell line to cytotoxic PrP106-126 peptide significantly down-regulated the cellular MAP2 level and remarkably disrupted the microtubule structure, but did not alter the level of tubulin. Moreover, the levels of calpain, which mediated the degradation of a broad of cytoskeletal proteins, were significantly increased in both PrP106-126 treated SK-N-SH cells and brain tissues of 263K prion-infected hamsters. Our data indicate that the decline of MAP2 is a common phenomenon in TSEs, which seems to occur at an early stage of incubation period. Markedly increased calpain level might contribute to the reduction of MAP2.

  14. [Doctor Francoise Cathala and history of prions diseases].

    Science.gov (United States)

    Court, L; Hauw, J-J

    2015-12-01

    Doctor Françoise Cathala Pagesy, MD, MS, born on July 7, 1921 in Paris, passed away peacefully at home on November 5, 2012. Unconventional, passionate and enthusiastic neurologist and virologist, she devoted her life to research on latent and slow viral infections, specializing mainly on unconventional transmissible agents or prions. As a research member of Inserm (French Institute for Medical Research), she soon joined the team of Carlton Gajdusek (the NINCDS - National Institute of Nervous Central System and Stroke - of NIH), who first demonstrated the transmissibility of kuru and Creutzfeldt-Jakob disease to monkeys. When she came back to Paris, where she was followed by one of NIH members, Paul Brown, she joined the Centre de Recherches du Service de Santé des Armées (Army Health Research Center), in Percy-Clamart, where she found the experimental design and the attentive help needed for her research, which appeared heretical to many French virologists, including some authorities. A large number of research programs were set up with numerous collaborations involving CEA (Center for Atomic Energy) and other institutions in Paris and Marseilles on epidemiology, results of tissue inoculation, electrophysiology and neuropathology of human and animal prions diseases, and resistance of the infectious agent. International symposia were set up, where met, in the Val-de-Grâce hospital in Paris, the research community on "slow viral diseases". Stanley Prusiner introduced the concept - then badly accepted and still in evolution - of prion, a protein only infectious agent. Before retiring from Inserm, Françoise Cathala predicted and was involved in some of the huge sanitary crises in France. These were, first, Creutzfeldt-Jakob disease from contaminated growth hormone extracted from cadavers, which led parents to instigate legal procedure - a quite unusual practice in France. The second was Mad cow disease in the United Kingdom then in France, followed by new variant

  15. Patología del sueño en las enfermedades priónicas Sleep disorders in prion diseases

    Directory of Open Access Journals (Sweden)

    T. Ayuso

    2007-01-01

    . Genetic polymorphism seems to determine the different family variants. One of the most enigmatic and unusual is Fatal Familial Insomnia (FFI, a hereditary disorder characterised by loss of physiological sleep with oneiric stupor, autonomic and motor hyperactivity, and motor anomalies. The polysomnography of this entity reflects an inability to produce the physiological pattern of NREM and REM sleep, as well as hormonal and vegetative circadian fluctuations; the transition from wakefulness to sleep is markedly altered with the early disappearance sleep spindles. The hypothesis of the origin of these disorders is thalamic neuronal loss, especially in the anterior and dorsomedial nuclei, described in the neuropathology of these patients; besides PET reveals hypofunction of thalamic nuclei, centres responsible for controlling wakefulness-sleep. In Creutzfeldt-Jakob disease the wake-sleep disorders are not considered characteristic; nonetheless, frequent alterations have been found in the electroencephalographic registers of sleep. Besides thalamic neurodegeneration, there could be common etiopathogenic mechanisms in prion diseases in relation to the biological function of the prion protein.

  16. Single-shot echo-planar MR sequences in the diagnosis of intracranial infectious diseases

    Energy Technology Data Exchange (ETDEWEB)

    Tsuchiya, Kazuhiro; Katase, Shichiro; Yoshino, Ayako; Yamakami, Norio; Hachiya, Junichi [Kyorin Univ., Mitaka, Tokyo (Japan). School of Medicine

    1998-06-01

    The purpose of this study was to present our preliminary experience in the application of echo-planar-imaging (EPI) MR sequences for the diagnosis of intracranial infectious diseases and to assess the value of these sequences. We reviewed single-shot EPI MR images obtained at 1.5 T in 17 patients and compared these images with conventional or fast spin-echo (SE) or fluid attenuated inversion-recovery (FLAIR) images. The clinical diagnoses for the 17 patients were meningitis (2 patients), encephalitis or meningoencephalitis (7 patients), brain abscess (5 patients), epidural empyema (2 patients) and Creutzfeldt-Jakob disease (1 patient). We obtained EPI-T{sub 2}-weighted (T{sub 2}W) images in 8 patients, EPI-FLAIR images in 13 patients and EPI-diffusion-weighted (DW) images in 14 patients. Among the 8 patients for whom EPI-T{sub 2}W imaging was performed, EPI-T{sub 2}W imaging yielded superior results compared with SE-T{sub 2}W imaging in 3 patients as a consequence of patient motion and equal results compared with SE-T{sub 2}W imaging in 5 patients. Among the 13 patients for whom EPI-FLAIR imaging was performed, the EPI-FLAIR images were superior to conventional FLAIR images in 3 unstable patients. In the remaining 10 patients for whom EPI-FLAIR imaging was performed, EPI-FLAIR images were equivalent or inferior to conventional FLAIR images. In 6 patients with encephalitis or meningoencephalitis, the encephalitic lesions showed hyperintensity in EPI-DW images to a greater extent than in images obtained with the other techniques. In 3 patients, EPI-DW images also demonstrated hyperintensity for the contents of abscesses or areas of empyema that was not seen with the other imaging techniques. The value of EPI-T{sub 2}W and EPI-FLAIR imaging is limited in uncooperative patients. EPI-DW imaging was found to be of value for the evaluation of several intracranial infectious diseases. (author)

  17. Human prion diseases in the United States.

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    Robert C Holman

    Full Text Available BACKGROUND: Prion diseases are a family of rare, progressive, neurodegenerative disorders that affect humans and animals. The most common form of human prion disease, Creutzfeldt-Jakob disease (CJD, occurs worldwide. Variant CJD (vCJD, a recently emerged human prion disease, is a zoonotic foodborne disorder that occurs almost exclusively in countries with outbreaks of bovine spongiform encephalopathy. This study describes the occurrence and epidemiology of CJD and vCJD in the United States. METHODOLOGY/PRINCIPAL FINDINGS: Analysis of CJD and vCJD deaths using death certificates of US residents for 1979-2006, and those identified through other surveillance mechanisms during 1996-2008. Since CJD is invariably fatal and illness duration is usually less than one year, the CJD incidence is estimated as the death rate. During 1979 through 2006, an estimated 6,917 deaths with CJD as a cause of death were reported in the United States, an annual average of approximately 247 deaths (range 172-304 deaths. The average annual age-adjusted incidence for CJD was 0.97 per 1,000,000 persons. Most (61.8% of the CJD deaths occurred among persons >or=65 years of age for an average annual incidence of 4.8 per 1,000,000 persons in this population. Most deaths were among whites (94.6%; the age-adjusted incidence for whites was 2.7 times higher than that for blacks (1.04 and 0.40, respectively. Three patients who died since 2004 were reported with vCJD; epidemiologic evidence indicated that their infection was acquired outside of the United States. CONCLUSION/SIGNIFICANCE: Surveillance continues to show an annual CJD incidence rate of about 1 case per 1,000,000 persons and marked differences in CJD rates by age and race in the United States. Ongoing surveillance remains important for monitoring the stability of the CJD incidence rates, and detecting occurrences of vCJD and possibly other novel prion diseases in the United States.

  18. Chronic wasting disease and atypical forms of bovine spongiform encephalopathy and scrapie are not transmissible to mice expressing wild-type levels of human prion protein.

    Science.gov (United States)

    Wilson, Rona; Plinston, Chris; Hunter, Nora; Casalone, Cristina; Corona, Cristiano; Tagliavini, Fabrizio; Suardi, Silvia; Ruggerone, Margherita; Moda, Fabio; Graziano, Silvia; Sbriccoli, Marco; Cardone, Franco; Pocchiari, Maurizio; Ingrosso, Loredana; Baron, Thierry; Richt, Juergen; Andreoletti, Olivier; Simmons, Marion; Lockey, Richard; Manson, Jean C; Barron, Rona M

    2012-07-01

    The association between bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (vCJD) has demonstrated that cattle transmissible spongiform encephalopathies (TSEs) can pose a risk to human health and raises the possibility that other ruminant TSEs may be transmissible to humans. In recent years, several novel TSEs in sheep, cattle and deer have been described and the risk posed to humans by these agents is currently unknown. In this study, we inoculated two forms of atypical BSE (BASE and H-type BSE), a chronic wasting disease (CWD) isolate and seven isolates of atypical scrapie into gene-targeted transgenic (Tg) mice expressing the human prion protein (PrP). Upon challenge with these ruminant TSEs, gene-targeted Tg mice expressing human PrP did not show any signs of disease pathology. These data strongly suggest the presence of a substantial transmission barrier between these recently identified ruminant TSEs and humans.

  19. Prionic diseases

    Directory of Open Access Journals (Sweden)

    Abelardo Q-C Araujo

    2013-09-01

    Full Text Available Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD and its variants, Gerstmann-Sträussler-Scheinker (GSS syndrome and fatal familial insomnia (FFI] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI. Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

  20. Long-term mortality in the United States cohort of pituitary-derived growth hormone recipients.

    Science.gov (United States)

    Mills, James L; Schonberger, Lawrence B; Wysowski, Diane K; Brown, Paul; Durako, Stephen J; Cox, Christopher; Kong, Fanhui; Fradkin, Judith E

    2004-04-01

    Patients who received pituitary-derived growth hormone (GH) are at excess risk of mortality from Creutzfeldt-Jakob disease. We investigated whether they were at increased risk of death from other conditions, particularly preventable conditions. A cohort (N=6107) from known US pituitary-derived GH recipients (treated 1963-1985) was studied. Deaths were identified by reports from physicians and parents and the National Death Index. Rates were compared with the expected rates for the US population standardized for race, age, and sex. There were 433 deaths versus 114 expected (relative risk [RR], 3.8; 95% confidence interval [CI], 3.4-4.2; Pderived GH recipients was almost four times the expected rate. Replacing pituitary-derived GH with recombinant GH has eliminated only the risk of Creutzfeldt-Jakob disease. Hypoglycemia and adrenal insufficiency accounted for far more mortality than Creutzfeldt-Jakob disease. The large number of potentially preventable deaths in patients with adrenal insufficiency and hypoglycemia underscores the importance of early intervention when infection occurs in patients with adrenal insufficiency, and aggressive treatment of panhypopituitarism.

  1. 75 FR 9902 - Agency Forms Undergoing Paperwork Reduction Act Review

    Science.gov (United States)

    2010-03-04

    ... reports include: Creutzfeldt-Jakob Disease (CJD), Cyclospora, Dengue, Hantavirus, Kawasaki Syndrome... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  2. Kleine-Levin Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  3. Klippel-Trenaunay Syndrome (KTS)

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  4. Locked-In Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  5. Meralgia Paresthetica

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  6. Striatonigral Degeneration

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  7. Syncope

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  8. Holmes-Adie Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  9. Neurological Sequelae of Lupus

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  10. Foot Drop

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  11. Central Cord Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  12. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  13. Tarlov Cysts

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  14. Lennox-Gastaut Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  15. Todd's Paralysis

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  16. Symmetrical corticobasal syndrome caused by a novel c.314dup progranulin mutation

    NARCIS (Netherlands)

    E.G.P. Dopper (Elise); H. Seelaar (Harro); W.Z. Chiu (Wang Zheng); I. de Koning (Inge); R. van Minkelen (Rick); M.C. Baker (Matthew); A.J.M. Rozemuller (Annemieke); R. Rademakers (Rosa); J.C. van Swieten (John)

    2011-01-01

    textabstractCorticobasal syndrome (CBS) is characterised by asymmetrical parkinsonism and cognitive impairment. The underlying pathology varies between corticobasal degeneration, progressive supranuclear palsy, Alzheimer's disease, Creutzfeldt-Jakob disease and frontotemporal lobar degeneration

  17. The expanding universe of prion diseases.

    Directory of Open Access Journals (Sweden)

    Joel C Watts

    2006-03-01

    Full Text Available Prions cause fatal and transmissible neurodegenerative disease. These etiological infectious agents are formed in greater part from a misfolded cell-surface protein called PrP(C. Several mammalian species are affected by the diseases, and in the case of "mad cow disease" (BSE the agent has a tropism for humans, with negative consequences for agribusiness and public health. Unfortunately, the known universe of prion diseases is expanding. At least four novel prion diseases--including human diseases variant Creutzfeldt-Jakob disease (vCJD and sporadic fatal insomnia (sFI, bovine amyloidotic spongiform encephalopathy (BASE, and Nor98 of sheep--have been identified in the last ten years, and chronic wasting disease (CWD of North American deer (Odocoileus Specis and Rocky Mountain elk (Cervus elaphus nelsoni is undergoing a dramatic spread across North America. While amplification (BSE and dissemination (CWD, commercial sourcing of cervids from the wild and movement of farmed elk can be attributed to human activity, the origins of emergent prion diseases cannot always be laid at the door of humankind. Instead, the continued appearance of new outbreaks in the form of "sporadic" disease may be an inevitable outcome in a situation where the replicating pathogen is host-encoded.

  18. The expanding universe of prion diseases.

    Directory of Open Access Journals (Sweden)

    2006-03-01

    Full Text Available Prions cause fatal and transmissible neurodegenerative disease. These etiological infectious agents are formed in greater part from a misfolded cell-surface protein called PrP(C. Several mammalian species are affected by the diseases, and in the case of "mad cow disease" (BSE the agent has a tropism for humans, with negative consequences for agribusiness and public health. Unfortunately, the known universe of prion diseases is expanding. At least four novel prion diseases-including human diseases variant Creutzfeldt-Jakob disease (vCJD and sporadic fatal insomnia (sFI, bovine amyloidotic spongiform encephalopathy (BASE, and Nor98 of sheep-have been identified in the last ten years, and chronic wasting disease (CWD of North American deer (Odocoileus Specis and Rocky Mountain elk (Cervus elaphus nelsoni is undergoing a dramatic spread across North America. While amplification (BSE and dissemination (CWD, commercial sourcing of cervids from the wild and movement of farmed elk can be attributed to human activity, the origins of emergent prion diseases cannot always be laid at the door of humankind. Instead, the continued appearance of new outbreaks in the form of "sporadic" disease may be an inevitable outcome in a situation where the replicating pathogen is host-encoded.

  19. Information for People Treated with Human Growth Hormone (Summary)

    Science.gov (United States)

    ... NHPP): Information for People Treated with Pituitary Human Growth Hormone (Summary) How did Creutzfeldt-Jakob disease (CJD) occur in people treated with pituitary human growth hormone (hGH)? From 1963 to 1985, the National Hormone ...

  20. Prions: a model of conformational disease?

    Science.gov (United States)

    Morinet, F

    2014-04-01

    The discovery that a protein could mimic viral and bacterial pathogens around 1980 by Stanley Prusiner was unexpected. Evidence shows now that Creutzfeldt-Jakob disease and related disorders are caused by prions. Prions and, for example neurodegeneratives diseases, arise from the same general disease mechanism. In each, there is abnormal unfolding and then aggregation of proteins. The protein conformational changes associated with the pathogenesis of protein misfolding disorders produce β sheet rich oligomers that are partially resistant to proteolysis and have a high tendency to form amyloid-like aggregates. It is important to distinguish between prions and amyloids: prions need not to polymerize into amyloid fibrils and can undergo self-propagation as oligomers. The prion diseases are characterized by the conformational conversion of PrP(c) to PrP(sc), the fundamental even underlying prion diseases. Despite the obvious differences between prions and conventional infectious microorganisms, prions fulfill the Koch's postulates. Meaningful treatments are likely to require cocktails of drugs that interfere with the conversion of precursor into prions and enhance the clearance of prions; such an approach may find application in the more common degenerative diseases.

  1. [Human prion diseases in the Czech Republic].

    Science.gov (United States)

    Rohan, Z; Rusina, R; Marešová, M; Matěj, R

    2015-09-01

    Human prion diseases are a group of very rare diseases with a unique pathogenesis and, due to an inauspicious prognosis and unavailability of therapy, with fatal consequences. The etiopathogenetic background is the presence of pathologically misfolded prion protein, highly resistant to denaturation, the aggregation and presence of which in the brain tissue causes irreversible neuronal damage. The most frequent prion disease in humans is Creutzfeldt-Jakob disease (CJD) which occurs in sporadic, hereditary/familial, or acquired/infectious/iatrogenic forms. A new form of CJD, variant CJD, is considered to be linked to dietary exposure to beef products from cattle infected with bovine spongiform encephalopathy (BSE) and to infection via blood transfusion. The clinical picture of these diseases is characterized by a rapidly progressing dementia, cerebellar and extrapyramidal symptoms, and rather specific MRI, EEG, and CSF findings. Clinically, the diagnosis is described as possible or probable prion disease and needs to be confirmed by neuropathological or immunological investigation of the brain tissue. Epidemiological data from the Czech Republic spanning the last decade are presented.

  2. Prion疾病%Prion disease

    Institute of Scientific and Technical Information of China (English)

    范学工

    1999-01-01

    @@ 人和动物的慢性中枢神经系统退行性疾病,如羊瘙痒症(scapie)、人克雅病(Creutzfeldt-Jakob Disease,CJD)和库鲁病(kuru)的病因一直不明,美国加州大学旧金山医学院的Prusiner教授经过近20年的研究,在1982年提出了Prion是CJD的病原因子假说,指出这是一种不同于细菌、病毒、真菌和寄生虫等病原微生物的新的致病蛋白质因子,并构建了prion-词[1].由Prion所引起的疾病称为Prion病(Prion Diseases).目前认为,Prion是所有传染性海绵状脑病(transmissible spongiform encephalopathies,TSE)的病原因子.

  3. [New findings on the diagnosis and therapy of prion diseases].

    Science.gov (United States)

    Begić, Lejla; Mulaomerović, Adaleta; Berbić, Selma; Zigić, Zlata

    2002-01-01

    Spongiform encephalopathies are the fatal diseases, that affect the brain tissue of mammals. They are caused by a conformational changed prion protein. There is no adequate diagnostic test for in vivo identification of prion protein. Disease can be diagnosed only by clinical sings and EEG in new variant of Creutzfeldt-Jakob disease. Post mortem, histopathological examination of brain tissue reveals spongiform changes and immunohistochemistry detects disease-related prion protein. Appropriate diagnostic in vivo tests are not developed yet; therefore extensive researches are ongoing aimed to introduce such methods. This review describes a few promising experimental methods, which may develop into diagnostic tests in the future: detection of prions in urine samples, PMCA (protein misfolding cyclic amplification), DATAS (differential analysis of transcripts with alternative splicing), SELEX (in vitro selection), detection of prions in tonsils and detection of copper and manganese dysbalance in tissues. Current therapy strategy is based on testing of some known drugs (quinacrine, chlorpromazine), and antioxidant and antibody treatments. The detection of NSE (neuron-specific enolase) and cholesterol in meat products reveals the presence of brain and spinal cord tissue. The spreading of spongiform encephalopathies can be diminished by utilising the adequate in vivo diagnostic tests, effective therapy strategy and preventive steps.

  4. Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein.

    Science.gov (United States)

    Salmona, Mario; Morbin, Michela; Massignan, Tania; Colombo, Laura; Mazzoleni, Giulia; Capobianco, Raffaella; Diomede, Luisa; Thaler, Florian; Mollica, Luca; Musco, Giovanna; Kourie, Joseph J; Bugiani, Orso; Sharma, Deepak; Inouye, Hideyo; Kirschner, Daniel A; Forloni, Gianluigi; Tagliavini, Fabrizio

    2003-11-28

    Prion protein (PrP) amyloid formation is a central feature of genetic and acquired forms of prion disease such as Gerstmann-Sträussler-Scheinker disease (GSS) and variant Creutzfeldt-Jakob disease. The major component of GSS amyloid is a PrP fragment spanning residues approximately 82-146. To investigate the determinants of the physicochemical properties of this fragment, we synthesized PrP-(82-146) and variants thereof, including entirely and partially scrambled peptides. PrP-(82-146) readily formed aggregates that were partially resistant to protease digestion. Peptide assemblies consisted of 9.8-nm-diameter fibrils having a parallel cross-beta-structure. Second derivative of infrared spectra indicated that PrP-(82-146) aggregates are primarily composed of beta-sheet (54%) and turn (24%) which is consistent with their amyloid-like properties. The peptide induced a remarkable increase in plasma membrane microviscosity of primary neurons. Modification of the amino acid sequence 106-126 caused a striking increase in aggregation rate, with formation of large amount of protease-resistant amorphous material and relatively few amyloid fibrils. Alteration of the 127-146 region had even more profound effects, with the inability to generate amyloid fibrils. These data indicate that the intrinsic properties of PrP-(82-146) are dependent upon the integrity of the C-terminal region and account for the massive deposition of PrP amyloid in GSS.

  5. The Leeuwenhoek Lecture 2001. Animal origins of human infectious disease.

    Science.gov (United States)

    Weiss, R A

    2001-06-29

    Since time immemorial animals have been a major source of human infectious disease. Certain infections like rabies are recognized as zoonoses caused in each case by direct animal-to-human transmission. Others like measles became independently sustained with the human population so that the causative virus has diverged from its animal progenitor. Recent examples of direct zoonoses are variant Creutzfeldt-Jakob disease arising from bovine spongiform encephalopathy, and the H5N1 avian influenza outbreak in Hong Kong. Epidemics of recent animal origin are the 1918-1919 influenza pandemic, and acquired immune deficiency syndrome caused by human immunodeficiency virus (HIV). Some retroviruses jump into and out of the chromosomal DNA of the host germline, so that they oscillate between being inherited Mendelian traits or infectious agents in different species. Will new procedures like animal-to-human transplants unleash further infections? Do microbes become more virulent upon cross-species transfer? Are animal microbes a threat as biological weapons? Will the vast reservoir of immunodeficient hosts due to the HIV pandemic provide conditions permissive for sporadic zoonoses to take off as human-to-human transmissible diseases? Do human infections now pose a threat to endangered primates? These questions are addressed in this lecture.

  6. Isoprostanes and Neuroprostanes as Biomarkers of Oxidative Stress in Neurodegenerative Diseases

    Directory of Open Access Journals (Sweden)

    Elżbieta Miller

    2014-01-01

    Full Text Available Accumulating data shows that oxidative stress plays a crucial role in neurodegenerative disorders. The literature data indicate that in vivo or postmortem cerebrospinal fluid and brain tissue levels of F2-isoprostanes (F2-IsoPs especially F4-neuroprotanes (F4-NPs are significantly increased in some neurodegenerative diseases: multiple sclerosis, Alzheimer's disease, Huntington's disease, and Creutzfeldt-Jakob disease. Central nervous system is the most metabolically active organ of the body characterized by high requirement for oxygen and relatively low antioxidative activity, what makes neurons and glia highly susceptible to destruction by reactive oxygen/nitrogen species and neurodegeneration. The discovery of F2-IsoPs and F4-NPs as markers of lipid peroxidation caused by the free radicals has opened up new areas of investigation regarding the role of oxidative stress in the pathogenesis of human neurodegenerative diseases. This review focuses on the relationship between F2-IsoPs and F4-NPs as biomarkers of oxidative stress and neurodegenerative diseases. We summarize the knowledge of these novel biomarkers of oxidative stress and the advantages of monitoring their formation to better define the involvement of oxidative stress in neurological diseases.

  7. 从羊瘙痒症到疯牛病——朊病毒发现史%From the Scrapie Syndrome of sheep and goats to the mad cow disease-the history of the discovery of prion

    Institute of Scientific and Technical Information of China (English)

    刘锐; 翁屹

    2009-01-01

    从1730年人们发现羊瘙痒症开始,克-雅氏症、库鲁病、疯牛病等一系列疾病随之出现.在库鲁病的研究中,美国科学家盖达塞克发现其病原体不具有DNA或RNA特性,并因此获得了1976年的诺贝尔生理学医学奖.其后,另一位美国科学家普鲁塞纳在进一步研究中,发现了以蛋白质为遗传媒介的新型病毒--朊病毒,并因此获得了1997年诺贝尔生理学医学奖.朊病毒的发现是生命科学研究中的重大事件,为人类战胜羊瘙痒症、克-雅氏症、库鲁病和疯牛病等一系列疾病奠定了理论基础.%Since the discovery of Scrapie Syndrome in sheep and goats in 1730, there emerged a series of diseases such as Creutzfeldt-Jakob disease, kuru disease and mad cow disease etc. In the research of kuru disease, the American scientist D. Carlteton Gajdusek found a new virus without the characteristic of DNA and RNA, which was awarded the Nobel Prize in physiology in 1976. Since then another American sci-entist, Stanley B. Prusiner, found a new virus-prion, taking protein as the genetic medium, which was awar-ded the Nobel prize in physiology and medicine in 1997. The discovery of prion is a great landmark in the re-search of life science, which laid a theoretical foundation for people to conquer n series of diseases such as Scrapie syndrome in sheep and goats, Creutzfeldt-Jakob disease, kuru disease and mad cow disease etc.

  8. Role of zinc and copper ions in the pathogenetic mechanisms of Alzheimer's and Parkinson's diseases.

    Science.gov (United States)

    Stelmashook, E V; Isaev, N K; Genrikhs, E E; Amelkina, G A; Khaspekov, L G; Skrebitsky, V G; Illarioshkin, S N

    2014-05-01

    Disbalance of zinc (Zn2+) and copper (Cu2+) ions in the central nervous system is involved in the pathogenesis of numerous neurodegenerative disorders such as multisystem atrophy, amyotrophic lateral sclerosis, Creutzfeldt-Jakob disease, Wilson-Konovalov disease, Alzheimer's disease, and Parkinson's disease. Among these, Alzheimer's disease (AD) and Parkinson's disease (PD) are the most frequent age-related neurodegenerative pathologies with disorders in Zn2+ and Cu2+ homeostasis playing a pivotal role in the mechanisms of pathogenesis. In this review we generalized and systematized current literature data concerning this problem. The interactions of Zn2+ and Cu2+ with amyloid precursor protein (APP), β-amyloid (Abeta), tau-protein, metallothioneins, and GSK3β are considered, as well as the role of these interactions in the generation of free radicals in AD and PD. Analysis of the literature suggests that the main factors of AD and PD pathogenesis (oxidative stress, structural disorders and aggregation of proteins, mitochondrial dysfunction, energy deficiency) that initiate a cascade of events resulting finally in the dysfunction of neuronal networks are mediated by the disbalance of Zn2+ and Cu2+.

  9. Reversible dementia: The imitation game

    Directory of Open Access Journals (Sweden)

    Venugopalan Y Vishnu

    2016-10-01

    Full Text Available Rapidly progressive dementia (RPD is an emergency in behavioural or cognitive neurology. Many rare neuroinfections like Neurosyphilis may be missed, if they are not thoroughly evaluated. We report a patient with subacute onset and progressive cognitive decline, extrapyramidal involvement and myoclonic jerks who was initially suspected as probable autoimmune encephalitis or Creutzfeldt-Jakob disease (CJD. Investigations revealed positive serum and cerebrospinal fluid (CSF Venereal Disease Research Laboratory test (VDRL. On treatment with penicillin, he developed Jarisch-Herxheimer reaction and was treated symptomatically. After two weeks of penicillin, he improved significantly and except for mild short term memory recall, he is asymptomatic for last two years.

  10. Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type

    Science.gov (United States)

    Cracco, Laura; Notari, Silvio; Cali, Ignazio; Sy, Man-Sun; Chen, Shu G.; Cohen, Mark L.; Ghetti, Bernardino; Appleby, Brian S.; Zou, Wen-Quan; Caughey, Byron; Safar, Jiri G.; Gambetti, Pierluigi

    2017-01-01

    In most human sporadic prion diseases the phenotype is consistently associated with specific pairings of the genotype at codon 129 of the prion protein gene and conformational properties of the scrapie PrP (PrPSc) grossly identified types 1 and 2. This association suggests that the 129 genotype favours the selection of a distinct strain that in turn determines the phenotype. However, this mechanism cannot play a role in the phenotype determination of sporadic fatal insomnia (sFI) and a subtype of sporadic Creutzfeldt-Jakob disease (sCJD) identified as sCJDMM2, which share 129 MM genotype and PrPSc type 2 but are associated with quite distinct phenotypes. Our detailed comparative study of the PrPSc conformers has revealed major differences between the two diseases, which preferentially involve the PrPSc component that is sensitive to digestion with proteases (senPrPSc) and to a lesser extent the resistant component (resPrPSc). We conclude that these variations are consistent with two distinct strains in sFI and sCJDMM2, and that the rarer sFI is the result of a variant strain selection pathway that might be favoured by a different brain site of initial PrPSc formation in the two diseases. PMID:28091514

  11. Mad Cows and CJD A Physicist's View of Prion Brain Diseases

    CERN Document Server

    Morrison, Douglas Robert Ogston

    1997-01-01

    The research of Carleton Gajdusek on a stone-age tribe in Papua New Guinea, who suffered from a mysterious disease, kuru, spread by cannibalism, is described and short extracts from his films will be shown. Some deaths from kuru are still occuring after 45 years. This disease is believed to be caused by an entirely new mechanism, not a virus or bacteria, but by a small molecule known as a prion that occurs naturally in many living forms. The Prion Only hypothesis of Stan Prusiner is discussed critically. It has been calculated that 900,000 cows in Britain had the Mad Cow disease, BSE, but most were slaughtered before symptoms were recognised. This epidemic started with 10 cases in the first year, and finally 160,000 were officially classified as having BSE; it is now slowly dying out. The human epidemic, caused by a new version of Creutzfeldt-Jakob Disease, nvCJD, affects mainly young people, has just begun with 10 cases in the first year. The average incubation time may be about 14 years then death follows i...

  12. Atypical sporadic CJD-MM phenotype with white matter kuru plaques associated with intranuclear inclusion body and argyrophilic grain disease.

    Science.gov (United States)

    Berghoff, Anna S; Trummert, Anita; Unterberger, Ursula; Ströbel, Thomas; Hortobágyi, Tibor; Kovacs, Gabor G

    2015-08-01

    We describe an atypical neuropathological phenotype of sporadic Creutzfeldt-Jakob disease in a 76-year-old man. The clinical symptoms were characterized by progressive dementia, gait ataxia, rigidity and urinary incontinence. The disease duration was 6 weeks. MRI did not show prominent atrophy or hyperintensities in cortical areas, striatum or thalamus. Biomarker examination of the cerebrospinal fluid deviated from that seen in pure Alzheimer's disease. Triphasic waves in the EEG were detected only later in the disease course, while 14-3-3 assay was positive. PRNP genotyping revealed methionine homozygosity (MM) at codon 129. Neuropathology showed classical CJD changes corresponding to the MM type 1 cases. However, a striking feature was the presence of abundant kuru-type plaques in the white matter. This rare morphology was associated with neuropathological signs of intranuclear inclusion body disease and advanced stage of argyrophilic grain disease. These alterations did not show correlation with each other, thus seemed to develop independently. This case further highlights the complexity of neuropathological alterations in the ageing brain.

  13. Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease.

    Directory of Open Access Journals (Sweden)

    Ihssane Bouybayoune

    2015-04-01

    Full Text Available Fatal familial insomnia (FFI and a genetic form of Creutzfeldt-Jakob disease (CJD178 are clinically different prion disorders linked to the D178N prion protein (PrP mutation. The disease phenotype is determined by the 129 M/V polymorphism on the mutant allele, which is thought to influence D178N PrP misfolding, leading to the formation of distinctive prion strains with specific neurotoxic properties. However, the mechanism by which misfolded variants of mutant PrP cause different diseases is not known. We generated transgenic (Tg mice expressing the mouse PrP homolog of the FFI mutation. These mice synthesize a misfolded form of mutant PrP in their brains and develop a neurological illness with severe sleep disruption, highly reminiscent of FFI and different from that of analogously generated Tg(CJD mice modeling CJD178. No prion infectivity was detectable in Tg(FFI and Tg(CJD brains by bioassay or protein misfolding cyclic amplification, indicating that mutant PrP has disease-encoding properties that do not depend on its ability to propagate its misfolded conformation. Tg(FFI and Tg(CJD neurons have different patterns of intracellular PrP accumulation associated with distinct morphological abnormalities of the endoplasmic reticulum and Golgi, suggesting that mutation-specific alterations of secretory transport may contribute to the disease phenotype.

  14. Transgenic fatal familial insomnia mice indicate prion infectivity-independent mechanisms of pathogenesis and phenotypic expression of disease.

    Science.gov (United States)

    Bouybayoune, Ihssane; Mantovani, Susanna; Del Gallo, Federico; Bertani, Ilaria; Restelli, Elena; Comerio, Liliana; Tapella, Laura; Baracchi, Francesca; Fernández-Borges, Natalia; Mangieri, Michela; Bisighini, Cinzia; Beznoussenko, Galina V; Paladini, Alessandra; Balducci, Claudia; Micotti, Edoardo; Forloni, Gianluigi; Castilla, Joaquín; Fiordaliso, Fabio; Tagliavini, Fabrizio; Imeri, Luca; Chiesa, Roberto

    2015-04-01

    Fatal familial insomnia (FFI) and a genetic form of Creutzfeldt-Jakob disease (CJD178) are clinically different prion disorders linked to the D178N prion protein (PrP) mutation. The disease phenotype is determined by the 129 M/V polymorphism on the mutant allele, which is thought to influence D178N PrP misfolding, leading to the formation of distinctive prion strains with specific neurotoxic properties. However, the mechanism by which misfolded variants of mutant PrP cause different diseases is not known. We generated transgenic (Tg) mice expressing the mouse PrP homolog of the FFI mutation. These mice synthesize a misfolded form of mutant PrP in their brains and develop a neurological illness with severe sleep disruption, highly reminiscent of FFI and different from that of analogously generated Tg(CJD) mice modeling CJD178. No prion infectivity was detectable in Tg(FFI) and Tg(CJD) brains by bioassay or protein misfolding cyclic amplification, indicating that mutant PrP has disease-encoding properties that do not depend on its ability to propagate its misfolded conformation. Tg(FFI) and Tg(CJD) neurons have different patterns of intracellular PrP accumulation associated with distinct morphological abnormalities of the endoplasmic reticulum and Golgi, suggesting that mutation-specific alterations of secretory transport may contribute to the disease phenotype.

  15. Sod1 deficiency reduces incubation time in mouse models of prion disease.

    Directory of Open Access Journals (Sweden)

    Shaheen Akhtar

    Full Text Available Prion infections, causing neurodegenerative conditions such as Creutzfeldt-Jakob disease and kuru in humans, scrapie in sheep and BSE in cattle are characterised by prolonged and variable incubation periods that are faithfully reproduced in mouse models. Incubation time is partly determined by genetic factors including polymorphisms in the prion protein gene. Quantitative trait loci studies in mice and human genome-wide association studies have confirmed that multiple genes are involved. Candidate gene approaches have also been used and identified App, Il1-r1 and Sod1 as affecting incubation times. In this study we looked for an association between App, Il1-r1 and Sod1 representative SNPs and prion disease incubation time in the Northport heterogeneous stock of mice inoculated with the Chandler/RML prion strain. No association was seen with App, however, significant associations were seen with Il1-r1 (P = 0.02 and Sod1 (P<0.0001 suggesting that polymorphisms at these loci contribute to the natural variation observed in incubation time. Furthermore, following challenge with Chandler/RML, ME7 and MRC2 prion strains, Sod1 deficient mice showed highly significant reductions in incubation time of 20, 13 and 24%, respectively. No differences were detected in Sod1 expression or activity. Our data confirm the protective role of endogenous Sod1 in prion disease.

  16. Extracellular vesicles--Their role in the packaging and spread of misfolded proteins associated with neurodegenerative diseases.

    Science.gov (United States)

    Coleman, Bradley M; Hill, Andrew F

    2015-04-01

    Many cell types, including neurons, are known to release small membranous vesicles known as exosomes. In addition to their protein content these vesicles have recently been shown to contain messenger RNA (mRNA) and micro RNA (miRNA) species. Roles for these vesicles include cell-cell signalling, removal of unwanted proteins, and transfer of pathogens (including prion-like misfolded proteins) between cells, such as infectious prions. Prions are the infectious particles that are responsible for transmissible neurodegenerative diseases such as Creutzfeldt-Jakob disease (CJD) of humans or bovine spongiform encephalopathy (BSE) of cattle. Exosomes are also involved in processing the amyloid precursor protein (APP), which is associated with Alzheimer's disease (AD). As exosomes can be isolated from circulating fluids such as serum, urine, and cerebrospinal fluid (CSF), they provide a potential source of biomarkers for neurological conditions. Here, we review the roles these vesicles play in neurodegenerative disease and highlight their potential in diagnosing these disorders through analysis of their RNA content.

  17. Distinct transmissibility features of TSE sources derived from ruminant prion diseases by the oral route in a transgenic mouse model (TgOvPrP4 overexpressing the ovine prion protein.

    Directory of Open Access Journals (Sweden)

    Jean-Noël Arsac

    Full Text Available Transmissible spongiform encephalopathies (TSEs are a group of fatal neurodegenerative diseases associated with a misfolded form of host-encoded prion protein (PrP. Some of them, such as classical bovine spongiform encephalopathy in cattle (BSE, transmissible mink encephalopathy (TME, kuru and variant Creutzfeldt-Jakob disease in humans, are acquired by the oral route exposure to infected tissues. We investigated the possible transmission by the oral route of a panel of strains derived from ruminant prion diseases in a transgenic mouse model (TgOvPrP4 overexpressing the ovine prion protein (A136R154Q171 under the control of the neuron-specific enolase promoter. Sources derived from Nor98, CH1641 or 87V scrapie sources, as well as sources derived from L-type BSE or cattle-passaged TME, failed to transmit by the oral route, whereas those derived from classical BSE and classical scrapie were successfully transmitted. Apart from a possible effect of passage history of the TSE agent in the inocula, this implied the occurrence of subtle molecular changes in the protease-resistant prion protein (PrPres following oral transmission that can raises concerns about our ability to correctly identify sheep that might be orally infected by the BSE agent in the field. Our results provide proof of principle that transgenic mouse models can be used to examine the transmissibility of TSE agents by the oral route, providing novel insights regarding the pathogenesis of prion diseases.

  18. Prion病与睡眠障碍%Prion diseases and sleep disorders

    Institute of Scientific and Technical Information of China (English)

    詹淑琴; 郭彩凤; 王玉平; 贾建平

    2013-01-01

    Prion diseases (PrD) are a group of encephalopathies with neurodegenerative changes caused by prion protein (PrP) whose characteristic datum is transmissibility.In most cases they occur in a sporadic form although a group of them are familial associated with mutations in PrP gene.Phenotypic variability of fatal familial insomnia (FFI) versus familial Creutzfeldt-Jakob disease178 (fCJD178) seems to determine the different methionine-valine polymorphism at codon 129 of the PrP gene.Sleep disorders is one of the important clinical features for the diagnosis and definition of PrD.FFI,a hereditary disorder characterized by loss of physiological sleep with oneiric stupor,autonomic and motor hyperactivity.The polysomnography (PSG) shows disappearance of the physiological pattern of non-rapid eye movement (NREM) and rapid eye movement (REM) sleep,as well as sleep spindles and K-complexes were absent.The hypothesis of the origin of these disorders is thalamic neuronal loss,especially in the anterior and dorsomedial nuclei,described in the neuropathology of these patients; besides,PET reveals hypofunction of thalamic nuclei,centres responsible for controlling wake-sleep.In CJD the wake-sleep disorders is not considered characteristic; nonetheless,frequent alterations have been found in the electroencephalographic registers of sleep.Besides thalamic neurodegeneration,there could be common etiopathogenic mechanisms in PrD in relation to the biological function of PrP.%Prion病是由传染性朊蛋白侵袭中枢神经系统引起的致死性神经变性脑病,睡眠障碍在Prion病中十分常见,也是其诊断特征之一.其中致死性家族性失眠症表现为严重的生理睡眠缺失及特殊梦幻状态、自主神经功能失调和过度运动;多导睡眠图早期睡眠纺锤波和K复合波消失,无法产生快速眼动和非快速眼动睡眠生理循环.除PET扫描呈现丘脑低代谢,神经病理学观察可见丘脑神经元大量缺失,尤其是丘脑

  19. Experimental treatments for human transmissible spongiform encephalopathies: is there a role for pentosan polysulfate?

    Science.gov (United States)

    Rainov, N G; Tsuboi, Y; Krolak-Salmon, P; Vighetto, A; Doh-Ura, K

    2007-05-01

    Human transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are caused by the accumulation of an abnormal isoform of the prion protein in the CNS. Creutzfeldt-Jakob disease in its sporadic form is the most frequent type of human TSE. At present, there is no proven specific or effective treatment available for any form of TSE. Pentosan polysulfate (PPS) has been shown to prolong the incubation period when administered to the cerebral ventricles in a rodent TSE model. Cerebroventricular administration of PPS has been carried out in 26 patients with TSEs and has been shown to be well tolerated in doses < or = 220 microg/kg/day. Proof of efficacy has been difficult because the specific and objective criteria for measurement of response have not been established yet. Preliminary clinical experience confirms extended survival in patients with variant Creutzfeldt-Jakob disease receiving intraventricular PPS; however, it is still not clear if this is due to PPS itself. Further prospective investigations of long-term intraventricular PPS administration are essential for the assessment of its effects.

  20. Phase I/II safety study of transfusion of prion-filtered red cell concentrates in transfusion-dependent patients.

    LENUS (Irish Health Repository)

    Cahill, M R

    2010-08-01

    Variant Creutzfeldt-Jakob (vCJD) is a fatal transfusion transmissible prion infection. No test for vCJD in the donor population is currently available. Therefore, prion removal by filtration of red cell concentrate (RCC) is an attractive option for prevention.

  1. Variably Protease-Sensitive Prionopathy: A New Sporadic Disease of the Prion Protein

    Science.gov (United States)

    Zou, Wen-Quan; Puoti, Gianfranco; Xiao, Xiangzhu; Yuan, Jue; Qing, Liuting; Cali, Ignazio; Shimoji, Miyuki; Langeveld, Jan P. M.; Castellani, Rudy; Notari, Silvio; Crain, Barbara; Schmidt, Robert E.; Geschwind, Michael; DeArmond, Stephen J.; Cairns, Nigel J.; Dickson, Dennis; Honig, Lawrence; Torres, Juan Maria; Mastrianni, James; Capellari, Sabina; Giaccone, Giorgio; Belay, Ermias D.; Schonberger, Lawrence B.; Cohen, Mark; Perry, George; Kong, Qingzhong; Parchi, Piero; Tagliavini, Fabrizio; Gambetti, Pierluigi

    2011-01-01

    Objective The objective of the study is to report 2 new genotypic forms of protease-sensitive prionopathy (PSPr), a novel prion disease described in 2008, in 11 subjects all homozygous for valine at codon 129 of the prion protein (PrP) gene (129VV). The 2 new PSPr forms affect individuals who are either homozygous for methionine (129MM) or heterozygous for methionine/valine (129MV). Methods Fifteen affected subjects with 129MM, 129MV, and 129VV underwent comparative evaluation at the National Prion Disease Pathology Surveillance Center for clinical, histopathologic, immunohistochemical, genotypical, and PrP characteristics. Results Disease duration (between 22 and 45 months) was significantly different in the 129VV and 129MV subjects. Most other phenotypic features along with the PrP electrophoretic profile were similar but distinguishable in the 3 129 genotypes. A major difference laid in the sensitivity to protease digestion of the disease-associated PrP, which was high in 129VV but much lower, or altogether lacking, in 129MV and 129MM. This difference prompted the substitution of the original designation with “variably protease-sensitive prionopathy” (VPSPr). None of the subjects had mutations in the PrP gene coding region. Interpretation Because all 3 129 genotypes are involved, and are associated with distinguishable phenotypes, VPSPr becomes the second sporadic prion protein disease with this feature after Creutzfeldt-Jakob disease, originally reported in 1920. However, the characteristics of the abnormal prion protein suggest that VPSPr is different from typical prion diseases, and perhaps more akin to subtypes of Gerstmann-Sträussler-Scheinker disease. PMID:20695009

  2. Genetic Characterization of Movement Disorders and Dementias

    Science.gov (United States)

    2017-09-28

    Ataxia; Dystonia; Parkinson's Disease; Amyotrophic Lateral Sclerosis; Corticobasal Degeneration; Multiple System Atrophy; Alzheimer's Disease; Lewy Body Dementia; Parkinson Disease-Dementia; Dentatorubral-pallidoluysian Atrophy; Creutzfeldt-Jakob Disease and Fatal Familial Insomnia; Fragile X-associated Tremor/Ataxia Syndrome; Krabbe's Disease; Niemann-Pick Disease, Type C; Neuronal Ceroid Lipofuscinosis

  3. Olfactory Receptors in Non-Chemosensory Organs: The Nervous System in Health and Disease

    Science.gov (United States)

    Ferrer, Isidro; Garcia-Esparcia, Paula; Carmona, Margarita; Carro, Eva; Aronica, Eleonora; Kovacs, Gabor G.; Grison, Alice; Gustincich, Stefano

    2016-01-01

    Olfactory receptors (ORs) and down-stream functional signaling molecules adenylyl cyclase 3 (AC3), olfactory G protein α subunit (Gαolf), OR transporters receptor transporter proteins 1 and 2 (RTP1 and RTP2), receptor expression enhancing protein 1 (REEP1), and UDP-glucuronosyltransferases (UGTs) are expressed in neurons of the human and murine central nervous system (CNS). In vitro studies have shown that these receptors react to external stimuli and therefore are equipped to be functional. However, ORs are not directly related to the detection of odors. Several molecules delivered from the blood, cerebrospinal fluid, neighboring local neurons and glial cells, distant cells through the extracellular space, and the cells’ own self-regulating internal homeostasis can be postulated as possible ligands. Moreover, a single neuron outside the olfactory epithelium expresses more than one receptor, and the mechanism of transcriptional regulation may be different in olfactory epithelia and brain neurons. OR gene expression is altered in several neurodegenerative diseases including Parkinson’s disease (PD), Alzheimer’s disease (AD), progressive supranuclear palsy (PSP) and sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2 with disease-, region- and subtype-specific patterns. Altered gene expression is also observed in the prefrontal cortex in schizophrenia with a major but not total influence of chlorpromazine treatment. Preliminary parallel observations have also shown the presence of taste receptors (TASRs), mainly of the bitter taste family, in the mammalian brain, whose function is not related to taste. TASRs in brain are also abnormally regulated in neurodegenerative diseases. These seminal observations point to the need for further studies on ORs and TASRs chemoreceptors in the mammalian brain. PMID:27458372

  4. Diseases of Elderly Patient

    Directory of Open Access Journals (Sweden)

    Eulália Maria Martins da SILVA

    2007-03-01

    Full Text Available Introduction: With the population aging, the number of chronic and degenerative illnesses, own of the old age, it will appear more frequently. Objective: The objective of this study was to do a literature revision in order to approach the illnesses that more they attack the patients of the third age (from the chronic diseases even the degenerative chronic diseases. Para that, a description will be accomplished as the concept and the signs and symptoms of the illnesses observed more frequently in the senior patients that will be depression, stress, loss of the memory, aterosclerose, osteoporosis, arthritis reumatóide and disorder temporomandibular, arterial hypertension, vascular diseases, heart diseases, obesity, diabetes mellitus, urinary incontinence, hearing and visual disturbances, disease of Parkinson and still the disease of Alzheimer. Conclusion: Based on the literature revision, we ended that, not only the professionals of the health, as well as all those that work with the seniors in general, they should have the concern of treating him with larger attention, patience and perseverance, to the point of to minimize the limitations that each one presents.

  5. The human prion diseases. A review with special emphasis on new variant CJD and comments on surveillance.

    LENUS (Irish Health Repository)

    Keohane, C

    2012-02-03

    The transmissible spongiform encephalopathies or prion diseases represent a new group of diseases with unique clinical and neuropathological features, the transmission of which is both genetic and infectious. The responsible agent is unconventional and appears to be largely composed of a glycoprotein, the prion protein PrP. This is normally present on different cells. In prion diseases, it becomes converted to the pathogenic form PrPres which is resistant to proteinase and accumulates within the brain and this process is accompanied by the development of spongiform change, gliosis and neuronal loss. The human prion diseases include Kuru a progressive cerebellar degeneration with late dementia affecting Fore tribes in New-Guinea, now almost extinct, regarded as being related to cannibalism. Creutzfeldt-Jakob disease is the more frequent human prion disease. Its incidence is approximately one case per million per year. Four variants are now recognized: sporadic, familial, iatrogenic and the new variant. The latter represents a distinct clinico-pathological entity. It is now widely accepted that it is due to the same agent responsible for Bovine Spongiform Encephalopathy in cattle. Gerstmann-Straussler-Scheinker disease is a very rare inherited disorder due to a number of different mutations in the PRP gene, characterized by abundant deposits of plaque PrPres in the cerebral grey matter. Fatal familial insomnia is another inherited disorder due to a mutation at codon 178 of the PRP gene associated with methionine on codon 129 of the mutant allele. The main neuropathological change is neuronal loss in the thalamus with little or no spongiosis and usually no PrPres deposition. Following the emergence of new variant CJD in 1996, surveillance of all forms of prion diseases has been now been actively introduced in many European nations in order to determine the true incidence and geographic distribution of these rare disorders in humans.

  6. Exosomes: vehicles for the transfer of toxic proteins associated with neurodegenerative diseases?

    Directory of Open Access Journals (Sweden)

    Shayne Anthony Bellingham

    2012-05-01

    Full Text Available Exosomes are small membranous vesicles secreted by a number of cell types including neurons and can be isolated from conditioned cell media or bodily fluids such as urine and plasma. Exosome biogenesis involves the inward budding of endosomes to form multivesicular bodies (MVB. When fused with the plasma membrane, the MVB releases the vesicles into the extracellular environment as exosomes. Proposed functions of these vesicles include roles in cell-cell signaling, removal of unwanted proteins, and the transfer of pathogens between cells. One such pathogen which exploits this pathway is the prion, the infectious particle responsible for the transmissible neurodegenerative diseases such as Creutzfeldt-Jakob disease (CJD of humans or bovine spongiform encephalopathy (BSE of cattle. Similarly, exosomes are also involved in the processing of the amyloid precursor protein (APP which is associated with Alzheimer's disease (AD. Exosomes have been shown to contain full-length APP and several distinct proteolytically cleaved products of APP, including Aβ. In addition, these fragments can be modulated using inhibitors of the proteases involved in APP cleavage. These observations provide further evidence for a novel pathway in which PrP and APP fragments are released from cells. Other proteins such as superoxide dismutase I (SOD-1 and alpha-synuclein (involved in Amyotrophic Lateral Sclerosis (ALS and Parkinson’s disease respectively are also found associated with exosomes. This review will focus on the role of exosomes in neurodegenerative disorders and discuss the potential of these vesicles for the spread of neurotoxicity, therapeutics and diagnostics for these diseases.

  7. Evidence of subclinical prion disease in aged mice following exposure to bovine spongiform encephalopathy.

    Science.gov (United States)

    Brown, Karen L; Mabbott, Neil A

    2014-01-01

    The occurrence of variant Creutzfeldt-Jakob (vCJD) disease in humans was almost certainly the result of consumption of food contaminated with bovine spongiform encephalopathy (BSE) prions. Despite probable widespread exposure of the UK population to BSE-contaminated food in the 1980s, vCJD has been identified predominantly in young individuals, and there have been fewer cases of clinical disease than anticipated. The reasons for this are uncertain. Following peripheral exposure, many prions replicate within the lymphoid tissues before infecting the central nervous system. We have shown that the effects of host age on the microarchitecture of the spleen significantly impair susceptibility to mouse-adapted prions after peripheral exposure. The transmission of prions between different mammalian species is considered to be limited by the 'species barrier', which is dependent on several factors, including an intact immune system. Thus, cross-species prion transmission may be much less efficient in aged individuals. To test this hypothesis, we compared prion pathogenesis in groups of young (6-8 weeks old) and aged (600 days old) mice injected with primary BSE brain homogenate. We showed that prion pathogenesis was impaired dramatically in aged mice when compared with young animals. Whereas most young mice succumbed to clinical prion disease, all aged mice failed to develop clinical disease during their lifespans. However, the demonstration that prion accumulation was detected in the lymphoid tissues of some aged mice after injection with primary BSE brain homogenate, in the absence of clinical signs of prion disease, has important implications for human health.

  8. Detecting and quantifying prions: Mass spectrometry-based approaches

    Science.gov (United States)

    Prions are novel pathogens that cause a set of rare fatal neurological diseases know as transmissible spongiform encephalopathies. Examples of these diseases include Creutzfeldt-Jakob disease, scrapie and chronic wasting disease. Prions are able to recruit a normal cellular prion protein and convert...

  9. A naturally occurring variant of the human prion protein completely prevents prion disease.

    Science.gov (United States)

    Asante, Emmanuel A; Smidak, Michelle; Grimshaw, Andrew; Houghton, Richard; Tomlinson, Andrew; Jeelani, Asif; Jakubcova, Tatiana; Hamdan, Shyma; Richard-Londt, Angela; Linehan, Jacqueline M; Brandner, Sebastian; Alpers, Michael; Whitfield, Jerome; Mead, Simon; Wadsworth, Jonathan D F; Collinge, John

    2015-06-25

    Mammalian prions, transmissible agents causing lethal neurodegenerative diseases, are composed of assemblies of misfolded cellular prion protein (PrP). A novel PrP variant, G127V, was under positive evolutionary selection during the epidemic of kuru--an acquired prion disease epidemic of the Fore population in Papua New Guinea--and appeared to provide strong protection against disease in the heterozygous state. Here we have investigated the protective role of this variant and its interaction with the common, worldwide M129V PrP polymorphism. V127 was seen exclusively on a M129 PRNP allele. We demonstrate that transgenic mice expressing both variant and wild-type human PrP are completely resistant to both kuru and classical Creutzfeldt-Jakob disease (CJD) prions (which are closely similar) but can be infected with variant CJD prions, a human prion strain resulting from exposure to bovine spongiform encephalopathy prions to which the Fore were not exposed. Notably, mice expressing only PrP V127 were completely resistant to all prion strains, demonstrating a different molecular mechanism to M129V, which provides its relative protection against classical CJD and kuru in the heterozygous state. Indeed, this single amino acid substitution (G→V) at a residue invariant in vertebrate evolution is as protective as deletion of the protein. Further study in transgenic mice expressing different ratios of variant and wild-type PrP indicates that not only is PrP V127 completely refractory to prion conversion but acts as a potent dose-dependent inhibitor of wild-type prion propagation.

  10. Geographical BSE risk assessment and its impact on disease detection and dissemination.

    Science.gov (United States)

    Salman, Mo; Silano, Vittorio; Heim, Dagmar; Kreysa, Joachim

    2012-08-01

    Bovine Spongiform Encephalopathy (BSE) rapidly evolved into an issue of major public concern particularly when, in 1996, evidence was provided that this disease had crossed the species barrier and infected humans in the UK with what has become known as "variant Creutzfeldt Jakob Disease" (vCJD). The aim of this paper is to describe the European Geographical BSE risk assessment (GBR) that was successfully used for assessing the qualitative likelihood that BSE could be present in a country where it was not yet officially recognized. It also discusses how this can lead to risk-based and therefore preventive management of BSE at national and international levels. The basic assumption of the GBR method is that the BSE agent is initially introduced into a country's domestic cattle production system through the importation of contaminated feedstuffs or live cattle. This is referred to as an "external challenge". The ability of the system to cope with such a challenge is, in turn, referred to as its "stability": a stable system will not allow the BSE agent to propagate and amplify following its introduction, while an unstable system will. The BSE-status of a country assessed by this system was used by the European Commission as the basis for trade legislation rules for cattle and their products. The GBR was an invaluable tool in evaluating the potential global spread of BSE as it demonstrated how a disease could be transferred through international trade. This was shown to be a critical factor to address in reducing the spread and amplification of BSE throughout the world. Furthermore, GBR resulted in the implementation of additional measures and management activities both to improve surveillance and to prevent transmission within the cattle population.

  11. Metalloproteins and neuronal death.

    Science.gov (United States)

    Brown, David R

    2010-03-01

    Neurodegenerative diseases include Alzheimer's and Parkinson's disease that are very common and other diseases that are notorious but occur less often such as Creutzfeldt-Jakob disease. In each case a protein is closely linked to the pathology of these diseases. These proteins include alpha-synuclein, the prion protein and Aβ. Despite first being discovered because of aggregates of these amyloidogenic proteins found in the brains of patients, these proteins all exist in the healthy brain where their normal function involves binding of metals. Recognition of these proteins as metalloproteins implies that the diseases they are associated with are possibly diseases with altered metal metabolism at their heart. This review considers the evidence that cell death in these diseases involves not just the aggregated proteins but also the metals they bind.

  12. Transmission of scrapie prions to primate after an extended silent incubation period

    Science.gov (United States)

    Classical bovine spongiform encephalopathy (c-BSE) is an animal prion disease that also causes variant Creutzfeldt-Jakob disease in humans. Over the past decades, c-BSE's zoonotic potential has been the driving force in establishing extensive protective measures for animal and human health. In compl...

  13. Prions in Variably Protease-Sensitive Prionopathy: An Update

    NARCIS (Netherlands)

    Zou, W.Q.; Gambetti, P.; Xiao, X.; Yuan, J.; Langeveld, J.P.M.; Pirisinu, L.

    2013-01-01

    Human prion diseases, including sporadic, familial, and acquired forms such as Creutzfeldt-Jakob disease (CJD), are caused by prions in which an abnormal prion protein (PrPSc) derived from its normal cellular isoform (PrPC) is the only known component. The recently-identified variably protease-sensi

  14. Mass Spectrometry of Prions: Approaches to Conformational Distinction

    Science.gov (United States)

    Prions are the agents that cause a set of fatal neurological diseases that include Creutzfeldt-Jakob disease. Prions are composed solely of protein. Unlike viral, bacterial, or fungal pathogens, the information necessary to propagate the infection is contained in the conformation of the prion isofor...

  15. BSE-associated prion-amyloid cardiomyopathy in primates.

    Science.gov (United States)

    Krasemann, Susanne; Mearini, Giulia; Krämer, Elisabeth; Wagenführ, Katja; Schulz-Schaeffer, Walter; Neumann, Melanie; Bodemer, Walter; Kaup, Franz-Josef; Beekes, Michael; Carrier, Lucie; Aguzzi, Adriano; Glatzel, Markus

    2013-06-01

    Prion amyloidosis occurred in the heart of 1 of 3 macaques intraperitoneally inoculated with bovine spongiform encephalopathy prions. This macaque had a remarkably long duration of disease and signs of cardiac distress. Variant Creutzfeldt-Jakob disease, caused by transmission of bovine spongiform encephalopathy to humans, may manifest with cardiac symptoms from prion-amyloid cardiomyopathy.

  16. Prion-Specific Antibodies Produced in Wild-Type Mice

    DEFF Research Database (Denmark)

    Heegaard, Peter M. H.; Bergström, Ann-Louise; Andersen, Heidi Gertz;

    2015-01-01

    method for production of mouse monoclonal antibodies (MAbs) against peptides representing two sites of interest in the bovine prion protein (boPrP), the causative agent of bovine spongiform encephalopathy ("mad cow disease") and new variant Creutzfeldt-Jakob's disease (CJD) in humans, as well...

  17. Inactivation of the BSE agent by the heat and pressure process for manufacturing gelatine

    NARCIS (Netherlands)

    Grobben, A.H.; Steele, P.J.; Somerville, R.A.; Taylor, D.; Schreuder, B.E.C.

    2005-01-01

    Dietary exposure to the bovine spongiform encephalopathy (BSE) agent is the probable cause of variant Creutzfeldt-Jakob disease in people. The industrial manufacturing process for the production of gelatine and colloidal protein by the heat and pressure process was downscaled accurately and its capa

  18. 76 FR 38667 - Transmissible Spongiform Encephalopathies Advisory Committee; Notice of Meeting

    Science.gov (United States)

    2011-07-01

    ... deferral for time spent in Saudi Arabia to reduce the risk of variant Creutzfeldt-Jakob disease (vCJD) by blood and blood products and human cells, tissues and cellular and tissue-based products. FDA intends to... HUMAN SERVICES Food and Drug Administration Transmissible Spongiform Encephalopathies Advisory...

  19. Typical and atypical cases of bovine spongiform encephalopathy

    Science.gov (United States)

    Bovine spongiform encephalopathy (BSE) is a transmissible spongiform encephalopathy of cattle, first detected in 1986 in the United Kingdom and subsequently in other countries. It is the most likely cause of variant Creutzfeldt-Jakob disease (vCJD) in humans, but the origin of BSE has not been eluci...

  20. Urinary alpha1-antichymotrypsin: a biomarker of prion infection.

    Directory of Open Access Journals (Sweden)

    Gino Miele

    Full Text Available The occurrence of blood-borne prion transmission incidents calls for identification of potential prion carriers. However, current methods for intravital diagnosis of prion disease rely on invasive tissue biopsies and are unsuitable for large-scale screening. Sensitive biomarkers may help meeting this need. Here we scanned the genome for transcripts elevated upon prion infection and encoding secreted proteins. We found that alpha(1-antichymotrypsin (alpha(1-ACT was highly upregulated in brains of scrapie-infected mice. Furthermore, alpha(1-ACT levels were dramatically increased in urine of patients suffering from sporadic Creutzfeldt-Jakob disease, and increased progressively throughout the disease. Increased alpha(1-ACT excretion was also found in cases of natural prion disease of animals. Therefore measurement of urinary alpha(1-ACT levels may be useful for monitoring the efficacy of therapeutic regimens for prion disease, and possibly also for deferring blood and organ donors that may be at risk of transmitting prion infections.

  1. Imaging dementias

    Energy Technology Data Exchange (ETDEWEB)

    Savoiardo, M.; Grisoli, M. [Dept. of Neuroradiology, Istituto Nazionale Neurologico, Milan (Italy)

    2001-03-01

    Dementia is the progressive loss of intellectual functions due to involvement of cortical or subcortical areas. Specific involvement of certain brain areas in the different diseases leads to impairment of different functions, e. g., memory, language, visuospatial abilities, and behavior. Magnetic resonance imaging and other neuroradiological studies may indicate which structures are mainly or selectively involved in a demented patient, thus allowing clinical-radiological correlations. Clinical presentation and evolution of the disease, supported by imaging studies, may lead to a highly probable diagnosis. The most common disorders, or the most relevant from the neuroradiological point of view, such as Alzheimer's disease, frontotemporal dementia, vascular dementias, dementia associated with parkinsonism, Huntington's disease, Creutzfeldt-Jakob disease, and normal-pressure hydrocephalus, are briefly discussed. (orig.)

  2. PATIENT REGISTRIES FOR RARE DISEASES

    Directory of Open Access Journals (Sweden)

    Mariela Deliverska

    2016-06-01

    Full Text Available Rare diseases are diseases with a particularly low prevalence. The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a distinctive domain of very high added value. The international reference for classification of diseases and conditions is the International Classification of Diseases (ICD, coordinated by the World Health Organization (WHO. Patient registries and databases constitute key instruments for the development of clinical research in the field of rare diseases. Rare disease registries include not only diseases that are inherently rare, but also common diseases that are rare in specific populations, especially those defined by demographics. Disease registries create the possibility of assessing the long-term safety and benefit of different treatments, perhaps leading to treatment algorithms that allow more choices for patients and clinicians.

  3. [Comments on present-day spread and epidemiology of BSE and prion diseases].

    Science.gov (United States)

    Bodemer, W; Kaup, F-J

    2004-02-01

    Prion diseases of animals and man are neurological diseases with amyloidal deposition of the respective proteins. As to prion disease, the cellular prion protein is in its abnormal isoform(s) an essential component of prion protein aggregates found in affected tissue. In contrast to all neurodegenerative diseases like Morbus Alzheimer or Huntington's disease, prion diseases are transmissible. Therefore, prion diseases were designated Transmissible Spongiform Encephalopathies (TSE). The diseases have been well known for decades. Scrapie was first described around 1750, a BSE case was reported in the 1850-ties most likely a misdiagnosis, and in 1920/1930 the human Creutzfeldt-Jakob disease (CJD) had been described. Transmission of CJD i. e. Kuru had been suspected in the early 1950 s and was erroneously classified as slow virus disease. The CJD transmission posed a problem to humans when transplants from CJD cases were used for treatment. Fortunately, these iatrogenic transmissions remained limited. But with the advent of BSE and appearance of variant CJD cases in the UK and some places in Europe scientists suspected that transmission from cattle to man could have happened. From animal models we know of successful transmission via several routes. Species barriers do not completely prevent transmission. Rather, transmission barriers might exist controlling individual susceptibility against prions. Modes of transmission, susceptibility to transmission, identification of receptor molecules as well as molecular mechanisms of the transmission process are being investigated with great intensity. Current knowledge leads us to assume that inapparent stages of prion infection wrongly suggest a (non-existent) species barrier. This inapparent infection precedes overt disease, and, hence, most research focuses on the development of highly sensitive assay systems for detection of minute amounts of pathological prion protein in suspected cases. Inapparence also should warn us to

  4. Implications of prion adaptation and evolution paradigm for human neurodegenerative diseases.

    Science.gov (United States)

    Kabir, M Enamul; Safar, Jiri G

    2014-01-01

    There is a growing body of evidence indicating that number of human neurodegenerative diseases, including Alzheimer disease, Parkinson disease, fronto-temporal dementias, and amyotrophic lateral sclerosis, propagate in the brain via prion-like intercellular induction of protein misfolding. Prions cause lethal neurodegenerative diseases in humans, the most prevalent being sporadic Creutzfeldt-Jakob disease (sCJD); they self-replicate and spread by converting the cellular form of prion protein (PrP(C)) to a misfolded pathogenic conformer (PrP(Sc)). The extensive phenotypic heterogeneity of human prion diseases is determined by polymorphisms in the prion protein gene, and by prion strain-specific conformation of PrP(Sc). Remarkably, even though informative nucleic acid is absent, prions may undergo rapid adaptation and evolution in cloned cells and upon crossing the species barrier. In the course of our investigation of this process, we isolated distinct populations of PrP(Sc) particles that frequently co-exist in sCJD. The human prion particles replicate independently and undergo competitive selection of those with lower initial conformational stability. Exposed to mutant substrate, the winning PrP(Sc) conformers are subject to further evolution by natural selection of the subpopulation with the highest replication rate due to the lowest stability. Thus, the evolution and adaptation of human prions is enabled by a dynamic collection of distinct populations of particles, whose evolution is governed by the selection of progressively less stable, faster replicating PrP(Sc) conformers. This fundamental biological mechanism may explain the drug resistance that some prions gained after exposure to compounds targeting PrP(Sc). Whether the phenotypic heterogeneity of other neurodegenerative diseases caused by protein misfolding is determined by the spectrum of misfolded conformers (strains) remains to be established. However, the prospect that these conformers may evolve and

  5. Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

    OpenAIRE

    Beck, Jon; Poulter, Mark; Hensman, Davina; Rohrer, Jonathan D.; Mahoney, Colin J; Adamson, Gary; Campbell, Tracy; Uphill, James; Borg, Aaron; Fratta, Pietro; Orrell, Richard W.; Malaspina, Andrea; Rowe, James; Brown, Jeremy; Hodges, John

    2013-01-01

    Hexanucleotide repeat expansions in C9orf72 are a major cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Understanding the disease mechanisms and a method for clinical diagnostic genotyping have been hindered because of the difficulty in estimating the expansion size. We found 96 repeat-primed PCR expansions: 85/2,974 in six neurodegenerative diseases cohorts (FTLD, ALS, Alzheimer disease, sporadic Creutzfeldt-Jakob disease, Huntington disease-like sy...

  6. Cerebrovascular disease in pediatric patients

    Directory of Open Access Journals (Sweden)

    Rotta Newra Tellechea

    2002-01-01

    Full Text Available Although rare in childhood, stroke may have a serious impact when it happens in this stage of life. Also, it may be the first sign of a systemic disease. We report 12 cases of patients with stroke treated in the Neuropediatrics Unit of Hospital de Clínicas de Porto Alegre (HCPA from March 1997 to March 2000. All patients, from term infants to 12-year-old children hospitalized in the Pediatrics Unit of HCPA, had clinical suspicion of stroke, which was later confirmed by radiological studies. Patient follow up ranged from 1 to 6 years (mean = 3.4 years. Presenting symptoms were hemiparesis in 9 patients, seizures in 7, deviation of labial commissure in 3, and loss of consciousness in 1. The increase in the number of cases of childhood stroke identified and later confirmed by noninvasive methods had helped in the determination of different ethiologies of stroke: the most frequent being hematologic, cardiac and genetic diseases. However, our study included 6 newborns with stroke whose ethiology was not identified. Seven children with seizures received phenobarbital. Six term infants had neonatal seizures secondary to stroke and restricted to the first 72 hours of life.

  7. Cows for fear: is BSE a threat to human health? Bovine spongiform encephalopathy.

    OpenAIRE

    Josephson, J

    1998-01-01

    In 1996, a new variant of Creutzfeldt-Jakob disease (vCJD)-a disease that causes lack of coordination, muscle twitching or jerking, dementia, and, eventually, death-suddenly appeared in Great Britain. It is believed that the victims contracted the disease from eating the beef of cattle stricken with bovine spongiform encephalopathy (BSE), or mad cow disease. As of December 1997, at least 25 people in the United Kingdom and France have contracted vCJD.

  8. Seeded fibrillation as molecular basis of the species barrier in human prion diseases.

    Directory of Open Access Journals (Sweden)

    Lars Luers

    Full Text Available Prion diseases are transmissible spongiform encephalopathies in humans and animals, including scrapie in sheep, bovine spongiform encephalopathy (BSE in cattle, chronic wasting disease (CWD in deer, and Creutzfeldt-Jakob disease (CJD in humans. The hallmark of prion diseases is the conversion of the host-encoded prion protein (PrP(C to its pathological isoform PrP(Sc, which is accompanied by PrP fibrillation. Transmission is not restricted within one species, but can also occur between species. In some cases a species barrier can be observed that results in limited or unsuccessful transmission. The mechanism behind interspecies transmissibility or species barriers is not completely understood. To analyse this process at a molecular level, we previously established an in vitro fibrillation assay, in which recombinant PrP (recPrP as substrate can be specifically seeded by PrP(Sc as seed. Seeding with purified components, with no additional cellular components, is a direct consequence of the "prion-protein-only" hypothesis. We therefore hypothesise, that the species barrier is based on the interaction of PrP(C and PrP(Sc. Whereas in our earlier studies, the interspecies transmission in animal systems was analysed, the focus of this study lies on the transmission from animals to humans. We therefore combined seeds from species cattle, sheep and deer (BSE, scrapie, CWD with human recPrP. Homologous seeding served as a control. Our results are consistent with epidemiology, other in vitro aggregation studies, and bioassays investigating the transmission between humans, cattle, sheep, and deer. In contrast to CJD and BSE seeds, which show a seeding activity we can demonstrate a species barrier for seeds from scrapie and CWD in vitro. We could show that the seeding activity and therewith the molecular interaction of PrP as substrate and PrP(Sc as seed is sufficient to explain the phenomenon of species barriers. Therefore our data supports the hypothesis

  9. [Care for patients with rare diseases].

    Science.gov (United States)

    Smetsers, Stephanie E; Takkenberg, J J M Hanneke; Bierings, Marc B

    2014-01-01

    A rare disease usually concerns only a handful of patients, but all patients with a rare disease combined represent a significant health burden. Due to limited knowledge and the absence of treatment guidelines, patients with rare diseases usually experience delayed diagnosis and suboptimal treatment. Historically, rare diseases have never been considered a major health problem. However, rare diseases have recently been receiving increased attention. In the Netherlands, a national plan for rare diseases was published in late 2013, with recommendations on how to improve the organisation of healthcare for people with rare diseases. Using the example of the rare disease Fanconi anemia, this paper describes the challenges and opportunities in organising healthcare for rare diseases. Two critical steps in optimising healthcare for rare diseases are developing multidisciplinary healthcare teams and stimulating patient empowerment. Optimal cooperation between patients, patient organisations, multidisciplinary healthcare teams and scientists is of great importance. In this respect, transition to adult healthcare requires special attention.

  10. Gallstones in Patients with Chronic Liver Diseases.

    Science.gov (United States)

    Li, Xu; Guo, Xiaolin; Ji, Huifan; Yu, Ge; Gao, Pujun

    2017-01-01

    With prevalence of 10-20% in adults in developed countries, gallstone disease (GSD) is one of the most prevalent and costly gastrointestinal tract disorders in the world. In addition to gallstone disease, chronic liver disease (CLD) is also an important global public health problem. The reported frequency of gallstone in chronic liver disease tends to be higher. The prevalence of gallstone disease might be related to age, gender, etiology, and severity of liver disease in patients with chronic liver disease. In this review, the aim was to identify the epidemiology, mechanisms, and treatment strategies of gallstone disease in chronic liver disease patients.

  11. Gallstones in Patients with Chronic Liver Diseases

    Directory of Open Access Journals (Sweden)

    Xu Li

    2017-01-01

    Full Text Available With prevalence of 10–20% in adults in developed countries, gallstone disease (GSD is one of the most prevalent and costly gastrointestinal tract disorders in the world. In addition to gallstone disease, chronic liver disease (CLD is also an important global public health problem. The reported frequency of gallstone in chronic liver disease tends to be higher. The prevalence of gallstone disease might be related to age, gender, etiology, and severity of liver disease in patients with chronic liver disease. In this review, the aim was to identify the epidemiology, mechanisms, and treatment strategies of gallstone disease in chronic liver disease patients.

  12. Isolation of prion with BSE properties from farmed goat.

    Science.gov (United States)

    Spiropoulos, John; Lockey, Richard; Sallis, Rosemary E; Terry, Linda A; Thorne, Leigh; Holder, Thomas M; Beck, Katy E; Simmons, Marion M

    2011-12-01

    Transmissible spongiform encephalopathies are fatal neurodegenerative diseases that include variant Creutzfeldt-Jakob disease in humans, scrapie in small ruminants, and bovine spongiform encephalopathy (BSE) in cattle. Scrapie is not considered a public health risk, but BSE has been linked to variant Creutzfeldt-Jakob disease. Small ruminants are susceptible to BSE, and in 2005 BSE was identified in a farmed goat in France. We confirm another BSE case in a goat in which scrapie was originally diagnosed and retrospectively identified as suspected BSE. The prion strain in this case was further characterized by mouse bioassay after extraction from formaldehyde-fixed brain tissue embedded in paraffin blocks. Our data show that BSE can infect small ruminants under natural conditions and could be misdiagnosed as scrapie. Surveillance should continue so that another outbreak of this zoonotic transmissible spongiform encephalopathy can be prevented and public health safeguarded.

  13. Ultra-Sensitive Detection of Prion Protein in Blood Using Isothermal Amplification Technology

    Science.gov (United States)

    2005-12-01

    Release; Distribution Unlimited 13. SUPPLEMENTARY NOTES Original contains colored plates: ALL DTIC reproductions will be in black and white...disease. Presently, the Western blot or ELISA are used to test the brain stem in cattle for the presence of PrPsc after proteinase K digestion of...concern about the safety of the food supply, knowing that infected beef has been implicated as the cause of variant Creutzfeldt-Jakob Disease (vCJD

  14. Mammalian prion biology: one century of evolving concepts.

    OpenAIRE

    Aguzzi, A; Polymenidou, M

    2004-01-01

    Prions have been responsible for an entire century of tragic episodes. Fifty years ago, kuru decimated the population of Papua New Guinea. Then, iatrogenic transmission of prions caused more than 250 cases of Creutzfeldt-Jakob disease. More recently, transmission of bovine spongiform encephalopathy to humans caused a widespread health scare. On the other hand, the biology of prions represents a fascinating and poorly understood phenomenon, which may account for more than just diseases and may...

  15. Reconstructing prions: fibril assembly from simple yeast to complex mammals

    OpenAIRE

    Sigurdson, C B; Polymenidou, M; Aguzzi, A

    2005-01-01

    With the epizootics of bovine spongiform encephalopathy (BSE) in North American cattle, BSE infections in goats, new forms of human Creutzfeldt-Jakob disease (CJD) and the spread of chronic wasting disease in North American deer and elk, one wonders whether we are gaining control over the transmissible spongiform encephalopathies (TSEs). Although many basic scientific questions in the prion field remain hotly debated and unresolved [1], including the function of the cellular prion protein (Pr...

  16. Glycoform-selective prion formation in sporadic and familial forms of prion disease.

    Directory of Open Access Journals (Sweden)

    Xiangzhu Xiao

    Full Text Available The four glycoforms of the cellular prion protein (PrP(C variably glycosylated at the two N-linked glycosylation sites are converted into their pathological forms (PrP(Sc in most cases of sporadic prion diseases. However, a prominent molecular characteristic of PrP(Sc in the recently identified variably protease-sensitive prionopathy (VPSPr is the absence of a diglycosylated form, also notable in familial Creutzfeldt-Jakob disease (fCJD, which is linked to mutations in PrP either from Val to Ile at residue 180 (fCJD(V180I or from Thr to Ala at residue 183 (fCJD(T183A. Here we report that fCJD(V180I, but not fCJD(T183A, exhibits a proteinase K (PK-resistant PrP (PrP(res that is markedly similar to that observed in VPSPr, which exhibits a five-step ladder-like electrophoretic profile, a molecular hallmark of VPSPr. Remarkably, the absence of the diglycosylated PrP(res species in both fCJD(V180I and VPSPr is likewise attributable to the absence of PrP(res glycosylated at the first N-linked glycosylation site at residue 181, as in fCJD(T183A. In contrast to fCJD(T183A, both VPSPr and fCJD(V180I exhibit glycosylation at residue 181 on di- and monoglycosylated (mono181 PrP prior to PK-treatment. Furthermore, PrP(V180I with a typical glycoform profile from cultured cells generates detectable PrP(res that also contains the diglycosylated PrP in addition to mono- and unglycosylated forms upon PK-treatment. Taken together, our current in vivo and in vitro studies indicate that sporadic VPSPr and familial CJD(V180I share a unique glycoform-selective prion formation pathway in which the conversion of diglycosylated and mono181 PrP(C to PrP(Sc is inhibited, probably by a dominant-negative effect, or by other co-factors.

  17. Neurologic Diseases in Special Care Patients.

    Science.gov (United States)

    Robbins, Miriam R

    2016-07-01

    Neurologic diseases can have a major impact on functional capacity. Patients with neurologic disease require individualized management considerations depending on the extent of impairment and impact on functional capacity. This article reviews 4 of the more common and significant neurologic diseases (Alzheimer disease, cerebrovascular accident/stroke, multiple sclerosis, and Parkinson disease) that are likely to present to a dental office and provides suggestions on the dental management of patients with these conditions.

  18. A New Approach for Detection Improvement of the Creutzfeldt-Jakob Disorder through a Specific Surface Chemistry Applied onto Titration Well

    Directory of Open Access Journals (Sweden)

    Dominique Debarnot

    2012-10-01

    Full Text Available This work illustrates the enhancement of the sensitivity of the ELISA titration for recombinant human and native prion proteins, while reducing other non-specific adsorptions that could increase the background signal and lead to a low sensitivity and false positives. It is achieved thanks to the association of plasma chemistry and coating with different amphiphilic molecules bearing either ionic charges and/or long hydrocarbon chains. The treated support by 3-butenylamine hydrochloride improves the signal detection of recombinant protein, while surface modification with the 3,7-dimethylocta-2,6-dien-1-diamine (geranylamine enhances the sensitivity of the native protein. Beside the surface chemistry effect, these different results are associated with protein conformation.

  19. Enfermedad de Creutzfeldt-Jakob: hallazgos clínicos, electroencefalográficos, imagenológicos y de patología

    OpenAIRE

    2010-01-01

    Éste artículo hace parte de: Acta Neurológica Colombianana Vol. 24 No. 3 SEPTIEMBRE 2008 La enfermedad de Creutzfeld-Jakob (ECJ) hace parte de un grupo de enfermedades transmisibles que se caracterizan por la presencia de encefalopatía espongiforme, donde también se encuentran el kuru, el síndrome Gerstmann-Straussler-Scheinker, y el insomnio fatal familiar. De ellas, la más común es la ECJ (representando aproximadamente el 85 por ciento de casos de encefalopatías espongiformes), con una i...

  20. Some trends of research in the domain of viral neuroinfections approached in the "Stefan S. Nicolau" Institute of Virology.

    Science.gov (United States)

    Drăgănescu, N

    1985-01-01

    The main directions of research in the field of viral neuroinfections approached during 35 years in the Institute of Virology are briefly outlined. After some considerations on terminology and on the classification of viral encephalitides, mention is made of the studies in the domain of herpes infections, rabies, meningitis, encephalitis and slow virus infections of the central nervous system (subacute sclerosing panencephalitis, multiple sclerosis, amyotrophic lateral sclerosis, Creutzfeldt-Jakob disease, etc.).

  1. Chronic diseases among older cancer patients.

    NARCIS (Netherlands)

    Deckx, L.D.; Akker, M.A. van der; Metsemakers, J.M.; Knottnerus, A.K.; Schellevis, F.G.; Buntinx, F.B.

    2011-01-01

    Introduction: With the growing number of older cancer patients, the burden of chronic diseases among older cancer patients will become increasingly important. Chronic diseases often interfere with treatment decisions and prognosis for cancer patients. However, little is known about the occurrence of

  2. Infectious diseases in end-stage liver disease patients.

    Science.gov (United States)

    Mehta, Aneesh K; Lyon, G Marshall

    2010-09-01

    Patients with chronic liver diseases sustain impairment to immune systems, which worsens over time. These defects in their host defense lead to risks of bacterial infections and increased morbidity. Providers should have heightened surveillance for infectious diseases and suspect one with any acute change in status. Patient history may reveal rare infections and allow initiation of early appropriate therapy. There should be a low threshold for obtaining diagnostic cultures and peritoneal fluid samples and discussing possible causes with an infectious diseases consultant or a microbiology laboratory. These maneuvers will maximize therapy in patients at high risk for death due to infectious disease.

  3. Dermatological diseases in patients with chronic kidney disease.

    Science.gov (United States)

    Gagnon1, Amy L; Desai, Tejas

    2013-04-01

    There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Some cutaneous diseases are clearly unique to this population. Of them, Lindsay's Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions.

  4. Hypovitaminosis D in patients with Crohn's disease

    OpenAIRE

    Rebouças,Priscilla Clímaco; NETINHO,João Gomes; Cunrath,Geni Satomi; Ronchi,Luiz Sergio; MELO,Marcelo Maia Caixeta de; Gonçalves Neto,Francisco de Assis; Muniz,Rafaela Cristina Coelho; Martins,Alissonn Teixeira Silva; Oliveira,Rafael Andrade de; Costa Junior,Ricardo Mendonça

    2016-01-01

    Abstract Objective Vitamin D has been widely studied as a mediator of the immune response, becoming evident the prevalence of hypovitaminosis D in patients with Crohn's disease. This work aims at evaluating the serum levels of vitamin D in patients suffering from Crohn's disease in a southeast region of Brazil. Methods It is a prospective study, with statistical analysis of the values of serum vitamin D measured between April 2014 and April 2015 in patients with Crohn's disease. Individuals...

  5. [Inpatients days in patients with respiratory diseases and periodontal disease].

    Science.gov (United States)

    Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; González-Cruz, Herminia; Casa-Medina, Guillermo; García-Sancho, Cecilia

    2017-01-01

    Periodontal disease is a chronic inflammatory gingival process that has been associated with the severity of respiratory diseases. In Mexico a prevalence of 78% was found in population with social security and > 60 years old. The aim of this study is to establish the association between periodontal disease and respiratory diseases according to the inpatient days. A cross-sectional study was conducted from January to December 2011. We included hospitalized patients, ≥ 18 years of age, without sedation or intubated. A dentist classified patients into two groups according to the severity of the periodontal disease: mild-to-moderate and severe. We estimated medians of inpatient days by disease and severity. Negative binomial models were adjusted to estimate incidence rate ratios and predicted inpatient days. 3,059 patients were enrolled. The median of observed and predicted inpatient days was higher in the group of severe periodontal disease (p disease, tuberculosis, and influenza had the highest incidence rates ratios of periodontal disease (p periodontal disease is positively -associated with inpatient days of patients with respiratory diseases.

  6. Radiotherapy in patients with connective tissue diseases.

    Science.gov (United States)

    Giaj-Levra, Niccolò; Sciascia, Savino; Fiorentino, Alba; Fersino, Sergio; Mazzola, Rosario; Ricchetti, Francesco; Roccatello, Dario; Alongi, Filippo

    2016-03-01

    The decision to offer radiotherapy in patients with connective tissue diseases continues to be challenging. Radiotherapy might trigger the onset of connective tissue diseases by increasing the expression of self-antigens, diminishing regulatory T-cell activity, and activating effectors of innate immunity (dendritic cells) through Toll-like receptor-dependent mechanisms, all of which could potentially lead to breaks of immune tolerance. This potential risk has raised some debate among radiation oncologists about whether patients with connective tissue diseases can tolerate radiation as well as people without connective tissue diseases. Because the number of patients with cancer and connective tissue diseases needing radiotherapy will probably increase due to improvements in medical treatment and longer life expectancy, the issue of interactions between radiotherapy and connective tissue diseases needs to be clearer. In this Review, we discuss available data and evidence for patients with connective tissue diseases treated with radiotherapy.

  7. Suicide in patients with motor neuron disease

    DEFF Research Database (Denmark)

    Bak, Søren; Stenager, E N; Stenager, Egon

    1994-01-01

    The aim of the present study was to assess, through an epidemiological study, whether suicide risk is increased in patients with motor neuron disease (MND). The study involved 116 patients with MND. In the study period 92 patients died, 47 males and 45 females. No patients committed suicide...

  8. Resilience in Patients with Ischemic Heart Disease

    Science.gov (United States)

    de Lemos, Conceição Maria Martins; Moraes, David William; Pellanda, Lucia Campos

    2016-01-01

    Background Resilience is a psychosocial factor associated with clinical outcomes in chronic diseases. The relationship between this protective factor and certain diseases, such heart diseases, is still under-explored. Objective The present study sought to investigate the frequency of resilience in individuals with ischemic heart disease. Method This was a cross-sectional study with 133 patients of both genders, aged between 35 and 65 years, treated at Rio Grande do Sul Cardiology Institute - Cardiology University Foundation, with a diagnosis of ischemic heart disease during the study period. Sixty-seven patients had a history of acute myocardial infarction. The individuals were interviewed and evaluated by the Wagnild & Young resilience scale and a sociodemographic questionnaire. Results Eighty-one percent of patients were classified as resilient according to the scale. Conclusion In the sample studied, resilience was identified in high proportion among patients with ischemic heart disease. PMID:26815312

  9. Heart Valve Disease among Patients with Hyperprolactinaemia

    DEFF Research Database (Denmark)

    Steffensen, Charlotte; Maegbaek, Merete Lund; Laurberg, Peter;

    2012-01-01

    Increased risk of heart valve disease during treatment with certain dopamine agonists, such as cabergoline, has been observed in patients with Parkinson's disease. The same compound is used to treat hyperprolactinemia, but it is unknown whether this also associates with heart valve disease....

  10. Cystic fibrosis lung disease in adult patients.

    Science.gov (United States)

    Vender, Robert L

    2008-04-01

    As the longevity of all patients with cystic fibrosis (CF) continues to increase (median 2005 survival=36.8 years), more adult patients will be receiving their medical care from nonpediatric adult-care providers. Cystic fibrosis remains a fatal disease, with more than 80% of patients dying after the age of 18 years, and most deaths resulting from pulmonary disease. The changing epidemiology requires adult-care providers to become knowledgeable and competent in the clinical management of adults with CF. Physicians must understand the influence of specific genotype on phenotypic disease presentation and severity, the pathogenic factors determining lung disease onset and progression, the impact of comorbid disease factors such as CF-related diabetes and malnutrition upon lung disease severity, and the currently approved or standard accepted therapies used for chronic management of CF lung disease. This knowledge is critical to help alleviate morbidity and improve mortality for the rapidly expanding population of adults with CF.

  11. Alloimmunization in multitransfused liver disease patients: Impact of underlying disease

    Directory of Open Access Journals (Sweden)

    Meenu Bajpai

    2016-01-01

    Full Text Available Introduction: Transfusion support is vital to the management of patients with liver diseases. Repeated transfusions are associated with many risks such as transfusion-transmitted infection, transfusion immunomodulation, and alloimmunization. Materials and Methods: A retrospective data analysis of antibody screening and identification was done from February 2012 to February 2014 to determine the frequency and specificity of irregular red-cell antibodies in multitransfused liver disease patients. The clinical and transfusion records were reviewed. The data was compiled, statistically analyzed, and reviewed. Results: A total of 842 patients were included in our study. Alloantibodies were detected in 5.22% of the patients. Higher rates of alloimmunization were seen in patients with autoimmune hepatitis, cryptogenic liver disease, liver damage due to drugs/toxins, and liver cancer patients. Patients with alcoholic liver disease had a lower rate of alloimmunization. The alloimmunization was 12.7% (23/181 in females and 3.17% (21/661 in males. Antibodies against the Rh system were the most frequent with 27 of 44 alloantibodies (61.36%. The most common alloantibody identified was anti-E (11/44 cases, 25%, followed by anti-C (6/44 cases, 13.63%. Conclusion: Our findings suggest that alloimmunization rate is affected by underlying disease. Provision of Rh and Kell phenotype-matched blood can significantly reduce alloimmunization.

  12. Periodontal findings in patients with Hansen's disease.

    Science.gov (United States)

    Ranganathan, Aravindhan Thiruputkuzhi; Khalid, Waleed; Saraswathy, Ponnandai Krishnamurthy; Chandran, Chitraa Rama; Mahalingam, Lakshmiganthan

    2014-09-01

    To find out whether there are any relationship between leprosy and periodontitis as evidenced by clinical parameters. Fifteen diagnosed patients with Hansen's disease were selected and compared against 50 healthy individuals. Clinical parameters like probing pocket depth and clinical attachment level were evaluated for both the groups and the results were subjected to statistical analysis. Mean probing depth and attachment loss is seen more in patients with Hansen's disease than the healthy controls which are statistically significant. Patients with Hansen's disease tend to have more periodontal destruction than the healthy controls. Copyright © 2014 Hainan Medical College. Published by Elsevier B.V. All rights reserved.

  13. Perioperative management of patients with Parkinson's disease.

    Science.gov (United States)

    Katus, Linn; Shtilbans, Alexander

    2014-04-01

    Parkinson's disease is the second most common neurodegenerative disease worldwide, leading to a wide range of disability and medical complications. Managing patients with Parkinson's disease in the perioperative hospital setting can be particularly challenging. Suboptimal management can lead to medical complications, prolonged hospital stays, and delayed recovery. This review aims to address the most important issues related to caring for patients with Parkinson's disease perioperatively who are undergoing emergent or planned general surgery. It also intends to help hospitalists, internists, and other health care providers mitigate potential in-hospital morbidity and prevent prolonged recovery. Challenges in managing patients with Parkinson's disease in the perioperative hospital setting include disruption of medication schedules, "nothing by mouth" status, reduced mobility, and medication interactions and their side effects. Patients with Parkinson's disease are more prone to immobility and developing dysphagia, respiratory dysfunction, urinary retention, and psychiatric symptoms. These issues lead to higher rates of pneumonia, urinary tract infections, deconditioning, and falls compared with patients without Parkinson's disease, as well as prolonged hospital stays and a greater need for post-hospitalization rehabilitation. Steps can be taken to decrease these complications, including minimizing nothing by mouth status duration, using alternative routes of drugs administration when unable to give medications orally, avoiding drug interactions and medications that can worsen parkinsonism, assessing swallowing ability frequently, encouraging incentive spirometry, performing bladder scans, avoiding Foley catheters, and providing aggressive physical therapy. Knowing and anticipating these potential complications allow hospital physicians to mitigate nosocomial morbidity and shorten recovery times and hospital stays.

  14. [Parasitic diseases in pediatric cancer patients].

    Science.gov (United States)

    Bialek, R

    2005-11-01

    Parasitic infections are rare events in pediatric oncology. Transmission routes and diseases of most parasites do not differ significantly from those seen in otherwise healthy children. However, latent asymptomatic infections with Cryptosporidium spp., Leishmania spp., Strongyloides stercoralis and Toxoplasma gondii might exacerbate during immunosuppression. Screening in asymptomatic patients is often unsuccessful due to the low sensitivity of available assays except in toxoplasmosis. This article provides the recommendations of the Infectious Diseases Working Party of the German Society for Pediatric Infectious Diseases (DGPI) and the German Society for Pediatric Hematology/Oncology (GPOH) for the appropriate diagnostic procedures and antiparasitic treatment immunocompromised patients.

  15. [Preoperative assessment of lung disease patients.].

    Science.gov (United States)

    Ramos, Gilson; Ramos Filho, José; Pereira, Edísio; Junqueira, Marcos; Assis, Carlos Henrique C

    2003-02-01

    Lung complications are the most frequent causes of postoperative morbidity-mortality, especially in lung disease patients. So, those patients should be preoperatively carefully evaluated and prepared, both clinically and laboratorially. This review aimed at determining surgical risk and at establishing preoperative procedures to minimize peri and postoperative morbidity-mortality in lung disease patients. Major anesthetic-surgical repercussions in lung function have already been described. Similarly, we tried to select higher-risk patients, submitted or not to lung resection. To that end, clinical and laboratorial propedeutics were used. Finally, a proposal of a preoperative algorithm was presented for procedures with lung resection. Lung disease patients, especially those with chronic evolution, need to be preoperatively thoroughly evaluated. ASA physical status and Goldmans cardiac index are important risk forecasting factors for lung disease patients not candidates for lung resection. Adding to these criteria, estimated postoperative max VO2, FEV1 and diffusion capacity are mandatory for some patients submitted to lung resection. beta2-agonists and steroids should be considered in the preoperative period of these patients.

  16. Psychological assessment of patients with Meniere's disease

    NARCIS (Netherlands)

    van Cruijsen, N.; Jaspers, J. P. C.; van de Wiel, H. B. M.; Wit, H. P.; Albers, F. W. J.

    2006-01-01

    The objective of this study was to evaluate daily stressors, coping, personality, physical and mental health, and quality of life in Meniere patients. 110 consecutive patients with definite Meniere's disease were assessed using the Dutch Daily Hassles List, Coping Inventory for Stressful Situations

  17. Mortality in patients with Parkinson's disease

    DEFF Research Database (Denmark)

    Wermuth, L; Stenager, E; Boldsen, J

    1995-01-01

    INTRODUCTION: After the introduction of L-dopa the mortality rate in Parkinson's disease (PD) patients has changed, but is still higher than in the background population. MATERIAL & METHODS: Mortality, age at death and cause of death in a group of PD patients compared with the background population...

  18. Current treatments for patients with Alzheimer disease.

    Science.gov (United States)

    Osborn, Gerald G; Saunders, Amanda Vaughn

    2010-09-01

    There is neither proven effective prevention for Alzheimer disease nor a cure for patients with this disorder. Nevertheless, a spectrum of biopsychosocial therapeutic measures is available for slowing progression of the illness and enhancing quality of life for patients. These measures include a range of educational, psychological, social, and behavioral interventions that remain fundamental to effective care. Also available are a number of pharmacologic treatments, including prescription medications approved by the US Food and Drug Administration for Alzheimer disease, "off-label" uses of medications to manage target symptoms, and controversial complementary therapies. Physicians must make the earliest possible diagnosis to use these treatments most effectively. Physicians' goals should be to educate patients and their caregivers, to plan long-term care options, to maximally manage concurrent illnesses, to slow and ameliorate the most disabling symptoms, and to preserve effective functioning for as long as possible. The authors review the various current treatments for patients with Alzheimer disease.

  19. Psychosocial interventions for patients with chronic disease

    Directory of Open Access Journals (Sweden)

    Deter Hans-Christian

    2012-01-01

    Full Text Available Abstract Treatment of patients with chronic diseases will be one of the main challenges of medicine in the future. This paper presents an overview of different origins, mechanism, and symptoms necessary for understanding new and different interventions that include a psychosomatic view. In a psychosomatic therapeutic intervention there are very different targets, such as psychological symptoms, personality traits, attitudes toward disease and life, risk behaviour, and social isolation and as biological targets the change of autonomic imbalance and of the effects of the psycho-endocrinological or psycho-immunological stress responses. And there are also different psychosomatic measures that influence the individual biological, psychological and sociological targets. There is a need to give different answer to different questions in the field of psychosomatic and behavioral medicine. Comparative effectiveness research is an important strategy for solving some methodological issues. What is the target of treatment for different diseases: Symptom reduction, healing, or limiting progression to the worst case - the death of patients. We know that, the patient-physician relationship is important for every medical/therapeutic action for patients with chronic diseases. This volume of BioPsychoSocial Medicine will present four different psychosomatic treatment studies from the clinical field in the sense of phase 2 studies: Reports of patients with obesity, anorexia nervosa, chronic somatoform pain and coronary artery disease were presented

  20. Musical hallucinations in patients with Lyme disease.

    Science.gov (United States)

    Stricker, Raphael B; Winger, Edward E

    2003-07-01

    Musical hallucinations are poorly understood auditory hallucinations that occur in patients with otologic or neurologic diseases. We report the first cases of musical hallucinations in two patients with neurologic Lyme disease. Both subjects were women with clinical and laboratory evidence of chronic Lyme disease, progressive neurologic dysfunction, and abnormal magnetic resonance imaging of the brain. There was no evidence of hearing loss in either case. Musical hallucinations had a sudden onset and took the form of patriotic or operatic music. The auditory hallucinations disappeared with intravenous (i.v.) antibiotic therapy in both patients, but the hallucinations recurred when i.v. antibiotic therapy was discontinued in one case. Response to therapy was accompanied by an increase in the CD57 lymphocyte subset in one patient, whereas recurrent hallucinations were associated with persistently low CD57 levels in the other case. We conclude that musical hallucinations may be associated with neurologic Lyme disease. These auditory hallucinations appear to respond to i.v. antibiotic therapy. Patients with musical hallucinations of unknown cause should be tested for infection with the Lyme disease spirochete.

  1. Dental profile of patients with Gaucher disease

    Directory of Open Access Journals (Sweden)

    Mann Jonathan

    2003-07-01

    Full Text Available Abstract Background This study was conducted to determine whether patients with Gaucher disease had significant dental pathology because of abnormal bone structure, pancytopenia, and coagulation abnormalities. Methods Each patient received a complete oral and periodontal examination in addition to a routine hematological evaluation. Results Gaucher patients had significantly fewer carious lesions than otherwise healthy carriers. Despite prevalence of anemia, there was no increase in gingival disease; despite the high incidence of thrombocytopenia, gingival bleeding was not noted; and despite radiological evidence of bone involvement, there was no greater incidence loss of teeth or clinical tooth mobility. Conclusions These data represent the first survey of the oral health of a large cohort of patients with Gaucher disease. It is a pilot study of a unique population and the results of the investigation are indications for further research. Based on our findings, we recommend regular oral examinations with appropriate dental treatment for patients with Gaucher disease as for other individuals. Consultation between the dentist and physician, preferably one with experience with Gaucher disease, should be considered when surgical procedures are planned.

  2. Mortality in patients with pituitary disease.

    LENUS (Irish Health Repository)

    Sherlock, Mark

    2010-06-01

    Pituitary disease is associated with increased mortality predominantly due to vascular disease. Control of cortisol secretion and GH hypersecretion (and cardiovascular risk factor reduction) is key in the reduction of mortality in patients with Cushing\\'s disease and acromegaly, retrospectively. For patients with acromegaly, the role of IGF-I is less clear-cut. Confounding pituitary hormone deficiencies such as gonadotropins and particularly ACTH deficiency (with higher doses of hydrocortisone replacement) may have a detrimental effect on outcome in patients with pituitary disease. Pituitary radiotherapy is a further factor that has been associated with increased mortality (particularly cerebrovascular). Although standardized mortality ratios in pituitary disease are falling due to improved treatment, mortality for many conditions are still elevated above that of the general population, and therefore further measures are needed. Craniopharyngioma patients have a particularly increased risk of mortality as a result of the tumor itself and treatment to control tumor growth; this is a key area for future research in order to optimize the outcome for these patients.

  3. [Sighting dominance in patients with macular disease].

    Science.gov (United States)

    Akaza, Eriko; Fujita, Kyoko; Shimada, Hiroyuki; Yuzawa, Mitsuko

    2007-04-01

    To study sighting dominance by comparing macular disease patients undergoing surgical treatment with controls. We studied visual acuity and sighting dominance in 92 macular disease patients, 27 of whom were assessed for both outcomes. We also studied visual acuity and sighting dominance in 412 controls. Sighting dominance was evaluated using the hole-in-card test. Among the controls, 70% showed right sighting dominance, and 30%, left sighting dominance. On the other hand, in patients with macular disease, right sighting dominance was demonstrated in 51%, and left in 49%; that is, 24% showed sighting dominance of the affected eye and 76%, of the fellow eye. During follow-up, sighting dominance of three of the 27 macular disease patients shifted from the affected eye to the fellow eye, which showed improvement in visual acuity. This study raises the possibility of sighting dominance shifting in patients with macular disease. There were differences among cases in the timing of the shift in sighting dominance, indicating that visual acuity may not be the only factor influencing sighting dominance. Further study is needed to confirm the factors contributing to sighting dominance.

  4. The emergence of Parkinson disease among patients with Gaucher disease.

    Science.gov (United States)

    Elstein, Deborah; Alcalay, Roy; Zimran, Ari

    2015-03-01

    In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and sub-cellular mechanisms of the inter-relatedness of β-glucocerebrosidase mutations and the emergence of Parkinson disease among carriers and patients with Gaucher disease. This review is an attempt to apprise the reader of the recent literature with the caveat that this is an area of intensive exploration that is constantly being updated because of the immediate clinical ramifications but also because of the impact on our understanding of Parkinson disease, and finally because of the unexpected inter-reactions between these entities on the molecular level. It has been an unexpected happenstance that it has been discovered that a rare monogenetic disease has an interface at many points with a neurological disorder of the elderly that has both familial and sporadic forms: to date there is no cure for either of these disorders.

  5. Recombinant TSH in follow-up and therapy of differentiated thyroid carcinoma; Rekombinantes TSH in der Nachsorge und Therapie des differenzierten Schilddruesenkarzinoms

    Energy Technology Data Exchange (ETDEWEB)

    Luster, M.; Reiners, C. [Wuerzburg Univ. (Germany). Klinik und Poliklinik fuer Nuklearmedizin

    2000-03-01

    I-131-scintigraphy and serum thyroglobulin testing - if possible under stimulation of thyrotropin - are besides physical examination and ultrasonography crucial for the optimal follow-up of patients with well-differentiated thyroid carcinoma. This required physicians to withdraw patients from thyroid hormone suppression therapy (THST) for several weeks in order to raise endogenous TSH-levels. Clinical hypothyroidism often results in substantial patient discomfort, with sometimes major psychic alterations; the subsequent disability to work is occasionally an unpleasant consequence from an economical point of view. The temporary use of bovine, and for a short period of time human TSH is obsolete today because of a high risk of allergic reactions or the potential transmission of the Creutzfeldt-Jakob disease, respectively. Lately recombinant human TSH (rhTSH, Thyrogen {sup trademark}), a hormone that was developed with the help of genetic engineering techniques, is available; its pharmacological safety has been demonstrated in previous phase-I/II-studies. The results of a phase-III-study showed in the majority of patients a marked rise in thyroglobulin levels after rhTSH. In all cases an adequate TSH level (>100 mU/l) was achieved after i.m. injection of recombinant TSH. Wholebody-scans showed a high level of accordance (>90%) in addition to a substantially lower background-activity. A tumour-background-ratio corresponding to conventional imaging could be demonstrated. (orig.) [German] Neben der klinischen Untersuchung und der Sonographie stellen die I-131-Szintigraphie sowie der Tumormarker Thyreoglobulin (Tg) - die Bestimmung von Tg moeglichst unter Stimulationsbedingungen - die Saeulen des Nachsorgekonzeptes beim differenzierten Schilddruesenkarzinom dar. Zur Induktion der endogenen TSH-Stimulation war es bislang erforderlich, eine mehrwoechige Phase des Absetzens der suppressiven Schilddruesenhormongabe mit konsekutiver Hypothyreose herbeizufuehren. Die

  6. Neoplastic pericardial disease. Analysis of 26 patients

    Directory of Open Access Journals (Sweden)

    Helena Nogueira Soufen

    1999-01-01

    Full Text Available PURPOSE: To characterize patients with neoplastic pericardial disease diagnosed by clinical presentation, complementary test findings, and the histological type of tumor. METHODS: Twenty-six patients with neoplastic pericardial disease were retrospectively analyzed. RESULTS: Clinical manifestations and abnormalities in chest roentgenograms and electrocardiograms were frequent, but were not specific. Most patients underwent surgery. There was a high positivity of the pericardial biopsy when associated with the cytological analysis of the pericardial liquid used to determine the histological type of the tumor, particularly when the procedure was performed with the aid of pericardioscopy. CONCLUSION: The correct diagnosis of neoplastic pericardial disease involves suspicious but nonspecific findings during clinical examination and in screen tests. The suspicious findings must be confirmed through more invasive diagnostic approaches, in particular pericardioscopy with biopsy and cytological study.

  7. LOCAL ANESTHETICS IN PATIENTS WITH CARDIOVASCULAR DISEASES.

    Directory of Open Access Journals (Sweden)

    risto Daskalov

    2015-03-01

    Full Text Available A significant problem in the dental medicine is pain alleviation. Many studies in the dental anesthesiology result in the production of new agents for locoregional anesthesia. Objective: This article aim to present the results of the last studies on the effect of the local anesthetics used in the oral surgery on patients with cardiovascular diseases. Material: A general review of the existing literature on the effect of the adrenaline, included as vasoconstrictor in the local anesthetics, used in patients with cardiovascular diseases is made. The benefits of vasoconstrictors for the quality of the anesthetic effect are proven. Conclusion: A small amount of adrenaline in the anesthetic solution does not result in complications development in patients with controlled cardiovascular diseases. Articaine is recommended agent of first choice for local anesthesia in the oral surgery.

  8. Cardiovascular disease in patients with rheumatoid arthritis

    DEFF Research Database (Denmark)

    Naranjo, Antonio; Sokka, Tuulikki; Descalzo, Miguel

    2008-01-01

    ABSTRACT: INTRODUCTION: We analyzed the prevalence of cardiovascular (CV) disease in patients with rheumatoid arthritis (RA) and its association with traditional CV risk factors, clinical features of RA, and the use of disease-modifying antirheumatic drugs (DMARDs) in a multinational cross......-sectional cohort of nonselected consecutive outpatients with RA (The Questionnaires in Standard Monitoring of Patients with Rheumatoid Arthritis Program, or QUEST-RA) who were receiving regular clinical care. METHODS: The study involved a clinical assessment by a rheumatologist and a self-report questionnaire...

  9. Exercise for older patients with chronic disease.

    Science.gov (United States)

    Petrella, R J

    1999-10-01

    Coronary artery disease, hypertension, congestive heart failure, type 2 diabetes mellitus, osteoarthritis, osteoporosis, and cognitive disorders become more prevalent as people age. Besides delaying the onset of many of these conditions, regular exercise may improve function and delay disability and morbidity in those who have them. Further, exercise may work synergistically with medication to combat the effects of some chronic diseases. Special adaptations for older patients include lower-intensity exercise (eg, fewer repetitions), low-impact exercise (cycling, exercise while sitting), and modified equipment (smaller weights, special shoes, loose clothing). Unresolved issues include development of optimal strategies for motivating older patients to begin and maintain exercise programs.

  10. Managing coeliac disease in patients with diabetes.

    Science.gov (United States)

    Leonard, M M; Cureton, P A; Fasano, A

    2015-01-01

    The association between coeliac disease and type 1 diabetes has long been established. The combination of genetic susceptibility along with a potential role for gluten in the pathogenesis of autoimmunity makes defining gluten's role in type 1 diabetes extremely important. Evidence supporting the role of a gluten-free diet to improve complications associated with type 1 diabetes is not robust. However there is evidence to support improved growth, bone density and potentially the prevention of additional autoimmune diseases in patients with coeliac disease and type 1 diabetes. The gluten free diet is expensive and challenging to adhere to in people already on a modified diet. Early identification of those who have coeliac disease and would benefit from a gluten-free diet is of utmost importance to prevent complications associated with type 1 diabetes and coeliac disease. © 2014 John Wiley & Sons Ltd.

  11. Crohn disease and the gynecologic patient.

    Science.gov (United States)

    Sides, Cleve; Trinidad, Mari Charisse; Heitlinger, Leo; Anasti, James

    2013-01-01

    Although Crohn disease (CD) is considered an inflammatory bowel disease, extraintestinal gynecologic manifestations are varied, frequent, and oftentimes difficult to manage. Its predilection for young and reproductive-age women makes it an important disease process for the gynecologist to understand, as its complications can have long-term repercussions on the developmental, sexual, reproductive, and psychological health of affected women. Patients may present with a variety of vulvovaginal, perineal, perianal, and urologic complaints. Perianal involvement from an intestinal fistula is the most common skin manifestation seen in CD. Other gynecologic manifestations include metastatic CD and rectovaginal and urovaginal fistulas. Recognition and accurate diagnosis of extraintestinal gynecologic manifestations, as well as a good understanding of the gynecologic effects of chronic disease, are necessary for optimal management. The article provides an overview of CD and highlights the gynecologic considerations in caring for women affected by this disease.

  12. Dysphagia in patients with cerebrovascular disease. Update.

    Directory of Open Access Journals (Sweden)

    Amarilis Barbié Rubiera

    2009-03-01

    Full Text Available An important number of patients with cerebrovascular disease also present dysphagia as a result of damage in cerebral hemispheres or brainstem, which contributes to negative morbility and functional rehabilitation prognosis due to the complications liked with this condition. It is a significant cause of nutritional dysfunctions, including increased in-hospital undernourishment, increased per patient expenditure and longer in-hospital stay. One of the objectives of the Nutritional Support Team of the Neuroscience and Neurology Institute is to reduce undernourishment causes in patients with neurological diseases. A wide review of the subject was performed including experts´ opinions, from the above mentioned institutions, in order to gather an updated report related with the significance of early diagnosis of dysphagia in patients with ictus and the opportune and correct use of therapeutic measures to reduce complication risk.

  13. Fatigue in Patients with Autoimmune Thyroid Diseases

    Directory of Open Access Journals (Sweden)

    Jovanovic Zorica

    2017-03-01

    Full Text Available Fatigue is a common feature in a wide variety of chronic inflammatory and autoimmune diseases, but fatigue in autoimmune thyroid disease (AITD has not been investigated so far. The aim of this study was to examine fatigue in patients with AITD and to analyse the correlation between fatigue and the serum concentrations of thyroid antibodies, thyroid function and depression. This cross-sectional clinical study included 62 patients with increased concentrations of thyroperoxidase antibodies (TPOAbs as confirmation of AITD and 52 healthy individuals who were negative for thyroid antibodies; all controls were euthyroid. Thyroid antibodies, free thyroxine and thyroid-stimulating hormone were measured in the sera of all subjects. The Fatigue Severity Scale was used to measure the severity of fatigue; the level of depression was measured by the Beck Depression Inventory. Eight (12.9% patients had evident fatigue, 7 (11.3% patients had fatigue limit values, and 47 (75.8% patients had no fatigue. The frequency of fatigue was highly significant and almost three times higher in the AITD patients compared to the control group, in which only 2 (3.8% patients had evident fatigue. The majority of patients with fatigue had normal thyroid function, and only one (1.6% patient had overt hypothyroidism. Seven (11.3% patients had both fatigue and depression, whereas one (1.6% patient had fatigue without depression. We did not find significant correlations between fatigue and the concentrations of thyroid antibodies, but we found statistically significant correlations between fatigue and depression in AITD patients.

  14. Cystatin F is a biomarker of prion pathogenesis in mice

    Science.gov (United States)

    Sorce, Silvia; Moos, Rita; Schori, Christian; Beerli, Roger R.; Bauer, Monika; Saudan, Philippe; Dietmeier, Klaus; Lachmann, Ingolf; Linnebank, Michael; Martin, Roland; Kallweit, Ulf; Kana, Veronika; Rushing, Elisabeth J.; Budka, Herbert

    2017-01-01

    Misfolding of the cellular prion protein (PrPC) into the scrapie prion protein (PrPSc) results in progressive, fatal, transmissible neurodegenerative conditions termed prion diseases. Experimental and epidemiological evidence point toward a protracted, clinically silent phase in prion diseases, yet there is no diagnostic test capable of identifying asymptomatic individuals incubating prions. In an effort to identify early biomarkers of prion diseases, we have compared global transcriptional profiles in brains from pre-symptomatic prion-infected mice and controls. We identified Cst7, which encodes cystatin F, as the most strongly upregulated transcript in this model. Early and robust upregulation of Cst7 mRNA levels and of its cognate protein was validated in additional mouse models of prion disease. Surprisingly, we found no significant increase in cystatin F levels in both cerebrospinal fluid or brain parenchyma of patients with Creutzfeldt-Jakob disease compared to Alzheimer’s disease or non-demented controls. Our results validate cystatin F as a useful biomarker of early pathogenesis in experimental models of prion disease, and point to unexpected species-specific differences in the transcriptional responses to prion infections. PMID:28178353

  15. [VGKC-complex antibodies].

    Science.gov (United States)

    Watanabe, Osamu

    2013-04-01

    Various antibodies are associated with voltage-gated potassium channels (VGKCs). Representative antibodies to VGKCs were first identified by radioimmunoassays using radioisotope-labeled alpha-dendrotoxin-VGKCs solubilized from rabbit brain. These antibodies were detected only in a proportion of patients with acquired neuromyotonia (Isaacs' syndrome). VGKC antibodies were also detected in patients with Morvan's syndrome and in those with a form of autoimmune limbic encephalitis. Recent studies indicated that the "VGKC" antibodies are mainly directed toward associated proteins (for example LGI-1 and CASPR-2) that complex with the VGKCs themselves. The "VGKC" antibodies are now commonly known as VGKC-complex antibodies. In general, LGI-1 antibodies are most commonly detected in patients with limbic encephalitis with syndrome of inappropriate secretion of antidiuretic hormone. CASPR-2 antibodies are present in the majority of patients with Morvan's syndrome. These patients develop combinations of CNS symptoms, autonomic dysfunction, and peripheral nerve hyperexcitability. Furthermore, VGKC-complex antibodies are tightly associated with chronic idiopathic pain. Hyperexcitability of nociceptive pathways has also been implicated. These antibodies may be detected in sera of some patients with neurodegenerative diseases (for example, amyotrophic lateral sclerosis and Creutzfeldt-Jakob disease).

  16. Fatigue in disease-free cancer patients

    NARCIS (Netherlands)

    Servaes, Petra

    2003-01-01

    The present thesis consists of 1 literature review and 6 research articles on the subject of fatigue complaints in disease-free cancer patients who have finished curative treatment several years ago. In these articles the prevalence of severe fatigue, the relationship between severe fatigue and

  17. Detection of arousals in Parkinson's disease patients

    DEFF Research Database (Denmark)

    Sørensen, Gertrud Laura; Kempfner, Jacob; Jennum, Poul

    2011-01-01

    suffering from Parkinson's disease (PD). The proposed algorithm uses features from EEG, EMG and the manual sleep stage scoring as input to a feed-forward artificial neural network (ANN). The performance of the algorithm has been assessed using polysomnographic (PSG) recordings from a total of 8 patients...

  18. Electrocardiographic characteristics of patients with chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Warnier, Miriam J; Rutten, Frans H; Numans, Mattijs E

    2013-01-01

    Patients with chronic obstructive pulmonary disease (COPD) are at increased risk of cardiovascular disease. Electrocardiography (ECG) carries information about cardiac disease and prognosis, but studies comparing ECG characteristics between patients with and without COPD are lacking. We related ECG...

  19. Myopathy in patients with Hashimoto's disease.

    Science.gov (United States)

    Villar, Jaqueline; Finol, Héctor J; Torres, Sonia H; Roschman-González, Antonio

    2015-03-01

    Hashimoto thyroiditis (HT) is an autoimmune disease of the thyroid gland. Patients may present or not a hypothyroid state, and frequently have manifestations of myopathy. The present work was aimed to assess the clinical symptoms and signs of skeletal muscle alterations in HT, describe the muscular pathological changes and relate them to the functional thyroid status and to the autoimmune condition of the patient. Clinical and laboratory studies were performed in ten HT patients and three control subjects (hormonal levels and electromyography). Biopsies from their vastus lateralis of quadriceps femoris muscle were analyzed under light (histochemistry and immunofluorescense) and electron microscopy. All patients showed muscle focal alterations, ranging from moderate to severe atrophy, necrosis, activation of satellite cells, presence of autophagosomes, capillary alterations and macrophage and mast cell infiltration, common to autoimmune diseases. The intensity of clinical signs and symptoms was not related to the morphological muscle findings, the electromyography results, or to the state of the thyroid function. Reactions for immunoglobulin in muscle fibers were positive in 80% of the patients. Fiber type II proportion was increased in all patients, with the exception of those treated with L-thyroxine. In conclusion, autoimmune processes in several of the patients may be associated to the skeletal muscle alterations, independently of the functional state of the thyroid gland; however, fiber II type proportion could have been normalized by L-thyroxine treatment.

  20. Dyslipidemia, kidney disease, and cardiovascular disease in diabetic patients.

    Science.gov (United States)

    Chen, Szu-chi; Tseng, Chin-Hsiao

    2013-01-01

    This article reviews the relationship between dyslipidemia, chronic kidney disease, and cardiovascular diseases in patients with diabetes. Diabetes mellitus is associated with complications in the cardiovascular and renal system, and is increasing in prevalence worldwide. Modification of the multifactorial risk factors, in particular dyslipidemia, has been suggested to reduce the rates of diabetes-related complications. Dyslipidemia in diabetes is a condition that includes hypertriglyceridemia, low high-density lipoprotein levels, and increased small and dense low-density lipoprotein particles. This condition is associated with higher cardiovascular risk and mortality in diabetic patients. Current treatment guidelines focus on lowering the low-density lipoprotein cholesterol level; multiple trials have confirmed the cardiovascular benefits of treatment with statins. Chronic kidney disease also contributes to dyslipidemia, and dyslipidemia in turn is related to the occurrence and progression of diabetic nephropathy. Different patterns of dyslipidemia are associated with different stages of diabetic nephropathy. Some trials have shown that treatment with statins not only decreased the risk of cardiovascular events, but also delayed the progression of diabetic nephropathy. However, studies using statins as the sole treatment of hyperlipidemia in patients on dialysis have not shown benefits with respect to cardiovascular risk. Diabetic patients with nephropathy have a higher risk of cardiovascular events than those without nephropathy. The degree of albuminuria and the reduction in estimated glomerular filtration rate are also correlated with the risk of cardiovascular events. Treatment with angiotensin-converting enzyme inhibitors and angiotensin II receptor blockers to reduce albuminuria in diabetic patients has been shown to decrease the risk of cardiovascular morbidity and mortality.

  1. Inflammatory bowel disease in pediatric patients

    Energy Technology Data Exchange (ETDEWEB)

    Charron, M. [Children`s Hospital of Pittsburgh, Pittsburgh (United States). Dept. of Radiology

    1997-12-01

    Optimal management of chronic idiopathic inflammatory bowel disease requires determination of disease localization and intensity. Scintigraphy with the use of {sup 99m}Tc - HMPAO- White Bloods Cells ({sup 99m}Tc - HMPAO-WBC) is a relatively new noninvasive nuclear medicine procedure. They have evaluated more than 230 children and have found a high correspondence between the disease distribution shown by the {sup 99m}Tc - HMPAO- WBC scan and that shown by endoscopic, radiologic, or surgical methods. Additionally the {sup 99m}Tc - HMPAO-WBC scan has the ability of identifying extra intestinal site of inflammation, such as appendicitis and others. The {sup 99m}Tc - HMPAO-WBC scan is reliable in differentiating Crohn`s disease from ulcerative colitis. Some patients because of unequivocal demonstrable small bowel uptake are reclassified from ulcerative colitis to Crohn`s disease. The medication regimen is frequently altered because of the intensity of uptake displayed by the {sup 99m}Tc - HMPAO-WBC scan. It is a practical and safe study even in an acutely ill patient who may not tolerate endoscopic or radiological study. At their institution, the {sup 99m}Tc - HMPAO-WBC scan is now part of the initial evaluation, and follow-up of patients with inflammatory bowel disease. In conclusion the {sup 99m}Tc - HMPAO-WBC is excellent for the detection, localization and characterization of inflammatory bowel disease in children. Compared with the other methods of investigation this study requires no bowel preparation, is noninvasive and has excellent diagnostic accuracy.

  2. Recovery of Lyme disease spirochetes from patients.

    Science.gov (United States)

    Steere, A. C.; Grodzicki, R. L.; Craft, J. E.; Shrestha, M.; Kornblatt, A. N.; Malawista, S. E.

    1984-01-01

    Since the summer of 1982, we have cultured patient specimens for Lyme disease spirochetes. Of 118 patients cultured, four specimens yielded spirochetes: two from blood, one from a skin biopsy specimen of erythema chronicum migrans (ECM), and one from cerebrospinal fluid. All four isolates appeared identical when examined with a monoclonal antibody. However, attempts to recover the spirochete from synovium or synovial fluid were unsuccessful. In addition, the organism could not be visualized in skin or synovial biopsy specimens using the avidin-biotin peroxidase complex detection system. Thus, the current yield in culturing spirochetes from patients is quite low, and it is not yet known whether the organism is still alive later in the disease when arthritis is present. PMID:6393606

  3. Pin1 and neurodegeneration: a new player for prion disorders?

    Directory of Open Access Journals (Sweden)

    Elisa Isopi

    2015-07-01

    Full Text Available Pin1 is a peptidyl-prolyl isomerase that catalyzes the cis/trans conversion of phosphorylated proteins at serine or threonine residues which precede a proline. The peptidyl-prolyl isomerization induces a conformational change of the proteins involved in cell signaling process. Pin1 dysregulation has been associated with some neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease and Huntington's disease. Proline-directed phosphorylation is a common regulator of these pathologies and a recent work showed that it is also involved in prion disorders. In fact, prion protein phosphorylation at the Ser-43-Pro motif induces prion protein conversion into a disease-associated form. Furthermore, phosphorylation at Ser-43-Pro has been observed to increase in the cerebral spinal fluid of sporadic Creutzfeldt-Jakob Disease patients. These findings provide new insights into the pathogenesis of prion disorders, suggesting Pin1 as a potential new player in the disease. In this paper, we review the mechanisms underlying Pin1 involvement in the aforementioned neurodegenerative pathologies focusing on the potential role of Pin1 in prion disorders.

  4. Oral Hygiene in Patients with Parkinson's Disease.

    Science.gov (United States)

    Batista, Leonardo M; Portela de Oliveira, Millena Teles; Magalhaes, Wilrama B; Bastos, Poliana Lima

    2015-11-02

    Parkinson's disease is a chronic progressive neurodegenerative disorder with a multifactorial etiology. The symptoms are characterized by motor disorders - tremor, rigidity, bradykinesia and postural instability, which hinder oral hygiene. Oral and dental health in Parkinson's disease has been under-documented and findings are conflicting. Moreover, a number of dentists have limited experience regarding the management of these patients. This article reviews literature published within the last fifteen years, to better understand the impact of this disease in oral health. A literature search (MEDLINE and PUBMED), using keywords Parkinson Disease and Oral Hygiene, yielded 27 articles, from which 20 were selected. All of the articles were published in English in the last 15 years.

  5. Quinoa Well Tolerated in Patients with Celiac Disease

    Science.gov (United States)

    ... Quinoa Well Tolerated in Patients with Celiac Disease Quinoa Well Tolerated in Patients with Celiac Disease FOR ... 263-9000 Bethesda, Maryland (January 21, 2014) – Adding quinoa to the gluten-free diet of patients with ...

  6. [Aphasia, prosopagnosia and mania: a case diagnosed with right temporal variant semantic dementia].

    Science.gov (United States)

    Turan, Çetin; Kesebir, Sermin; Meteris, Handan; Ülker, Mustafa

    2013-01-01

    Neurologic disorders can produce "secondary" mania, and clinicians must distinguish secondary mania from bipolar disorders (BD). Patients with new and late onset mania require an evaluation that includes a thorough history, a neurologic examination, neuroimaging, and other selected tests. Neurologic causes of mania include strokes in the right basotemporal or inferofrontal region, strokes or tumors in the perihypothalamic region, Huntington's disease and other movement disorders, multiple sclerosis and other white matter diseases, head trauma, infections such as neurosyphilis and Creutzfeldt-Jakob disease, and frontotemporal lobar degeneration. The term Frontotemporal Lobar Degeneration (FTLD) is suggested for neurodegenerative diseases characterized by focal degeneration such as Primer Progressive Aphasia (PPA), Frontal Lobe Dementia, PPA- Amyotrophic Lateral Sclerosis (ALS), and Corticobasal Degeneration. In this article, we report a frontotemporal dementia (FTD) case that referred with manic symptoms. The female patient was 46 years old, married, graduated from primary school, and had been admitted with complaints of hyperactivity, excessive talking, and decreased sleep for one week. She presented first with complaints that began three years ago that included the inability to remember names, recognize faces, use household appliances, and follow rules. She had also been repeating the same words and behaviors. Prosopagnosia, aphasia, and a positive family history of ALS were discussed with related index in our case.

  7. Articular manifestations in patients with Lyme disease.

    Science.gov (United States)

    Vázquez-López, María Esther; Díez-Morrondo, Carolina; Sánchez-Andrade, Amalia; Pego-Reigosa, Robustiano; Díaz, Pablo; Castro-Gago, Manuel

    To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  8. Depression Among Sexually Transmitted Disease Patients

    Institute of Scientific and Technical Information of China (English)

    黄长征; 李碧芳; 涂亚庭; 刘志香; 林能兴

    2001-01-01

    Objective: To investigate the depression status of patients with sexually transmitted diseases (STDs).Methods: The depression status of fifty-one hospitalized STD patients was evaluated in a randomized control study using Zung's Quantitative Table. 18 healthy control patients with similar demographic backgrounds were randomly chosen as controls. Patients with scores above or equal to 40 were considered to be suffering from depression.Results: The prevalence rate of depression in the patient group was obviously higher than that of in the control (X2=16.456,P<0.01). Prevalence of depression was found to be significantly related to occupation (P<0.05). Though the prevalence was not found to differ significantly between those with a treatment course less than 2 months and those with one longer or equal to 2 months (X2=0.041, P>0.05), the mean depression scores of the former group were significantly higher than those of the latter (P<0.01). No significant differences were found between new versus relapsing disease, married versus non-married, male versus female, or differing educational backgrounds.Conclusion: STD patients showed significant prevalence of depression.

  9. Ancestral origins of the prion protein gene D178N mutation in the Basque Country.

    Science.gov (United States)

    Rodríguez-Martínez, Ana B; Barreau, Christian; Coupry, Isabelle; Yagüe, Jordi; Sánchez-Valle, Raquel; Galdós-Alcelay, Luis; Ibáñez, Agustín; Digón, Antón; Fernández-Manchola, Ignacio; Goizet, Cyril; Castro, Azucena; Cuevas, Nerea; Alvarez-Alvarez, Maite; de Pancorbo, Marian M; Arveiler, Benoît; Zarranz, Juan J

    2005-06-01

    Fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD) are familial prion diseases with autosomal dominant inheritance of the D178N mutation. FFI has been reported in at least 27 pedigrees around the world. Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993. The high incidence of familial prion diseases in this region may reflect a unique ancestral origin of the chromosome carrying this mutation. In order to investigate this putative founder effect, we developed "happy typing", a new approach to the happy mapping method, which consists of the physical isolation of large haploid genomic DNA fragments and their analysis by the Polymerase Chain Reaction in order to perform haplotypic analysis instead of pedigree analysis. Six novel microsatellite markers, located in a 150-kb genomic segment flanking the PRNP gene were characterized for typing haploid DNA fragments of 285 kb in size. A common haplotype was found in patients from the Basque region, strongly suggesting a founder effect. We propose that "happy typing" constitutes an efficient method for determining disease-associated haplotypes, since the analysis of a single affected individual per pedigree should provide sufficient evidence.

  10. Aortocaval Fistula in a Behcet's Disease Patient

    Directory of Open Access Journals (Sweden)

    Yusuf Ata

    2009-01-01

    Full Text Available Behcet's disease (BD is a chronic, recurrent, systemic disease that is characterized by oral and genital ulcers and oculocutaneous inflammatory lesions. Cardiovascular involvement especially large artery involvement is a serious and vital complication of BD. Pseudoaneurysms in the major arteries may be the cause of sudden death in BD. In our case a pulsatile abdominal mass was determined to be an aortic pseudoaneurysm associated with BD and an aortocaval fistula. Here we report this case and a short review of literature because this is the first reported aortocaval fistula in a BD patient in English literature.

  11. The importance of recognizing faciobrachial dystonic seizures in rapidly progressive dementias

    Directory of Open Access Journals (Sweden)

    Mateus Mistieri Simabukuro

    Full Text Available ABSTRACT Background: Creutzfeldt-Jakob Disease (CJD is the prototypical cause of rapidly progressive dementia (RPD. Nonetheless, efforts to exclude reversible causes of RPD that mimic prion disease are imperative. The recent expanding characterization of neurological syndromes associated with antibodies directed against neuronal cell surface or sympathic antigens, namely autoimmune encephalitis is shifting paradigms in neurology. Such antigens are well known proteins and receptors involved in synaptic transmission. Their dysfunction results in neuropsychiatric symptoms, psychosis, seizures, movement disorders and RPD. Faciobrachial dystonic seizure (FBDS is a novel characterized type of seizure, specific for anti-LGI1 encephalitis. Objective: In order to improve clinical recognition we report the cases of two Brazilian patients who presented with characteristic FDBS (illustrated by videos and anti-LGI1 encephalitis. Methods: We have included all patients with FBDS and confirmed anti-LGI1 encephalitis and video records of FDBS in two tertiary Brazilian centers: Department of Neurology of Hospital das Clínicas, Sao Paulo University, Sao Paulo, Brazil and Hospital Geral de Fortaleza, Fortaleza, Brazil between January 1, 2011 and December 31, 2015. Results: Both patients presented with clinical features of limbic encephalitis associated with FBDS, hyponatremia and normal CSF. None of them presented with tumor and both showed a good response after immunotherapy. Conclusion: FBDSs may be confounded with myoclonus and occurs simultaneously with rapid cognitive decline. Unawareness of FDBS may induce to misdiagnosing a treatable cause of RPD as CJD.

  12. Heartworm disease: Case study in dog patient

    Directory of Open Access Journals (Sweden)

    Spasojević-Kosić Ljubica

    2011-01-01

    Full Text Available Dirofilaria immitis is a parasite in a. pulmonalis in domestic and wild carnivora. Partial development and the transfer of this parasite among carnivora takes place through the mosquito, which makes possible the maintaining and spreading of this parasite among populations of susceptible animals. Heartworm disease, which is caused by Dirofilaria immitis, is most often manifested as changes in the respiratory and cardiovascular systems. This paper presents the case of heartworm disease in a dog. The therapy used to treat this disease in the dog was a combination of doxycycline and ivermectin. The blood test results indicated a rapid decrease in the number of microfilaria and lowering of the antigen level of the adult parasite. The conducted general and special clinical examinations of the respiratory and cardiovascular systems registered an improvement in the clinical condition of the patient.

  13. OTHELLO SYNDROME IN PATIENTS WITH PARKINSON'S DISEASE

    OpenAIRE

    Georgiev, Dejan; Danieli, Aljoša; Ocepek, Lidija; Novak, Dominika; Zupančič-Križnar, Nina; Trošt, Maja; Pirtošek, Zvezdan

    2010-01-01

    Background: Othello syndrome (OS) is an organic delusional disorder with prevailing jealousy symptoms presumably appearing as side effect of antiparkinsonian therapy. The clinical spectrum of psychiatric symptoms in Parkinson's disease (PD) is very wide, including symptoms of depresion and anxiety, hallucinations, delusions, with prevalent paranoid symptoms, agitation, delirium and sleep disorders. At our knowledge, just a few cases of patients with PD and OS were reported till now. ...

  14. Anesthesia for patients with renal/hepatic disease.

    Science.gov (United States)

    Weil, Ann B

    2010-05-01

    General anesthesia may be necessary for patients with significant disease processes such as renal disease or hepatic disease. A basic understanding of the effects of general anesthetics on these organs and the anticipated problems of renal and hepatic impairment on the anesthetic process is necessary to optimize conditions for patients with renal or hepatic disease. Patient preparation, drug selection, and monitoring strategies will be discussed for patients with renal and liver disease.

  15. Aquatic therapy for patients with rheumatic disease.

    Science.gov (United States)

    McNeal, R L

    1990-11-01

    Aquatic therapy is justifiably a rapidly expanding, beneficial form of patient treatment. The goals established at the initial and subsequent evaluations usually are met as quickly and as sensibly as possible. Understanding the theory of water techniques is essential in implementing an aquatic therapy program. The success of the program, however, will always depend on the pleasure and benefits achieved by the patients. Remember, rheumatic patients most likely will need to modify their previous daily functioning. Patients need to be aware of the long-term ramifications of the disease process and understand how treatment and care may be altered during various stages of exacerbation and remission. Patient education is critical in ensuring individual responsibility for the changes that must be made when not supervised by a professional. Aquatic therapy is a step in molding a positive lifestyle change for the patient. The patient can be encouraged to be fitness oriented and, at the same time, exercise in a manner that is safe, effective, and biomechanically and physiologically sound. The environment, hopefully, also will be conductive to family and social interaction that ultimately encourages the compliance of long-term exercise programs.

  16. [Vaccinations in patients with autoimmune diseases].

    Science.gov (United States)

    Bühler, Silja; Hatz, Christoph

    2016-01-01

    The number of individuals with autoimmune diseases treated with immunosuppressive drugs is increasing steadily. The variety of immunosuppressive drugs and in particular biological therapies is also rising. The autoimmune disease itself as well as the immunosuppressive therapy increases the risk of infection in this population. Particularly the risk of vaccine-preventable infections is elevated. Thus, preventing infections by the means of vaccination is of utmost importance. The Division of Infectious Diseases of the Epidemiology, Biostatistics and Prevention Institute, University of Zurich, performed a literature search on the topic of vaccinations in patients with autoimmune diseases upon request by the Swiss Federal Commission for Vaccination Issues. Overall, data are scarce. The following main points were retrieved from the literature: Inactivated vaccines are safe, but their immunogenicity may be reduced under immunosuppressive therapy. In addition to the generally recommended basic vaccinations, specific vaccinations, such as influenza and pneumococcal vaccination are indicated in these patient groups. Live vaccines are generally contraindicated under immunosuppressive therapy due to safety concerns. However, specific exceptions apply. Furthermore, certain time intervals for the administration of live vaccines after pausing or ceasing an immunosuppressive therapy should be respected.

  17. [Nephrolithiasis in patients with intestinal diseases].

    Science.gov (United States)

    Cirillo, M; Iudici, M; Marcarelli, F; Laudato, M; Zincone, F

    2008-01-01

    Intestinal diseases may cause the formation of urinary stones through changes in the metabolism of oxalate, calcium, and uric acid. The oxalate that is excreted into urine comes from the catabolism of ascorbic acid and some amino acids or from intestinal absorption of food oxalate. Calcium is absorbed by the gut after the stimulation of active vitamin D and is excreted by the kidney under the control of the bone/parathyroid hormone axis. Uric acid is generated by the oxidation of exogenous and endogenous purine bases, is excreted by the kidney through glomerular filtration/tubular secretion, and is soluble in alkaline urine. Several data indicate that patients with inflammatory bowel diseases are at high risk of urinary stones containing calcium-oxalate salt or uric acid. Calcium-oxalate stones are caused by colonic oxalate hyperabsorption (secondary to intestinal dysfunction) or by parenteral nutrition. Uric acid stones are typical of patients with severe diarrhea and/or intestinal neostomy, that is, in patients with hyperconcentrated acidic urine. Relationships between malabsorptive intestinal diseases and urinary stones are less well defined. Preventive countermeasures are not the same for all disorders. Hyperoxaluria should be controlled by diets with a low content of lipids and oxalate but supplemented with calcium and probiotics. The presence of hyperconcentrated acidic urine should be controlled by correct hydration and administration of citrate.

  18. [Psychopharmacotherapy in patients with cardiovascular diseases].

    Science.gov (United States)

    Cordes, J; Lange-Asschenfeldt, C; Hiemke, C; Kahl, K G

    2012-11-01

    Increased cardiometabolic morbidity and increased overall mortality has been observed in patients with severe mental disorders. Therefore, cardiometabolic safety is an important issue in the treatment of patients with psychiatric disorders, in particular in patients with comorbid cardiometabolic diseases. Frequent adverse side effects include disturbances of lipid and glucose metabolism, body weight changes and alterations of the QTc interval. Dependent on the particular substance used and on factors concerning individual vulnerability, these side effects vary in relative frequency. Therefore, regular monitoring is recommended including ECG. Furthermore, interactions between different medicaments may occur, either leading to enhanced or decreased drug concentrations. Prior to psychopharmacological treatment, proper cardiological treatment is recommended. The management of cardiovascular risks under psychopharmacology requires interdisciplinary cooperation between the cardiologist, general practitioner and psychiatrist.

  19. Balancing evidence and public opinion in health technology assessments: the case of leukoreduction.

    Science.gov (United States)

    Cleemput, Irina; Leys, Mark; Ramaekers, Dirk; Bonneux, Luc

    2006-01-01

    Leukoreduction, filtering white blood cells from transfusion blood, effectively avoids leukocyte-related complications of blood transfusion. The technology has proven its relative cost-effectiveness for specific patient populations. With the advent of variant Creutzfeldt-Jakob disease, a transmittable spongiform encephalopathy caused by mad cow disease (bovine spongiform encephalopathy), the hard hit United Kingdom introduced universal leukoreduction for all patients as a precaution for transmission of prions in 1999. This costly policy was followed by many other countries, in the absence of much evidence of an actual health problem or of a more than presumed effectiveness of leukoreduction in preventing prion transmission. The core problem proved to be legal. The blood banks are legally accountable for blood safety. This accountability is absolute, based on avoidance of all possible risks, regardless of costs. This strategy leads to inefficiencies in health care: (i) blood safety management is guided by available rather than cost-effective technology, and (ii) private insurance premiums for civil liability are sharply increasing, while they are in no way related to the expected returns and the high and increasing blood safety. A rational safety policy is to be optimal, taking into account costs and effects of the safety procedures. This issue will need an open discussion with the general public of the real risks and a clear and unambiguous definition of proportionality in the precautionary principle, based on the European law.

  20. Squirrel monkeys (Saimiri sciureus) infected with the agent of bovine spongiform encephalopathy develop tau pathology.

    Science.gov (United States)

    Piccardo, P; Cervenak, J; Yakovleva, O; Gregori, L; Pomeroy, K; Cook, A; Muhammad, F S; Seuberlich, T; Cervenakova, L; Asher, D M

    2012-07-01

    Squirrel monkeys (Saimiri sciureus) were infected experimentally with the agent of classical bovine spongiform encephalopathy (BSE). Two to four years later, six of the monkeys developed alterations in interactive behaviour and cognition and other neurological signs typical of transmissible spongiform encephalopathy (TSE). At necropsy examination, the brains from all of the monkeys showed pathological changes similar to those described in variant Creutzfeldt-Jakob disease (vCJD) of man, except that the squirrel monkey brains contained no PrP-amyloid plaques typical of that disease. Constant neuropathological features included spongiform degeneration, gliosis, deposition of abnormal prion protein (PrP(TSE)) and many deposits of abnormally phosphorylated tau protein (p-Tau) in several areas of the cerebrum and cerebellum. Western blots showed large amounts of proteinase K-resistant prion protein in the central nervous system. The striking absence of PrP plaques (prominent in brains of cynomolgus macaques [Macaca fascicularis] with experimentally-induced BSE and vCJD and in human patients with vCJD) reinforces the conclusion that the host plays a major role in determining the neuropathology of TSEs. Results of this study suggest that p-Tau, found in the brains of all BSE-infected monkeys, might play a role in the pathogenesis of TSEs. Whether p-Tau contributes to development of disease or appears as a secondary change late in the course of illness remains to be determined.

  1. Auditory Dysfunction in Patients with Cerebrovascular Disease

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    Sadaharu Tabuchi

    2014-01-01

    Full Text Available Auditory dysfunction is a common clinical symptom that can induce profound effects on the quality of life of those affected. Cerebrovascular disease (CVD is the most prevalent neurological disorder today, but it has generally been considered a rare cause of auditory dysfunction. However, a substantial proportion of patients with stroke might have auditory dysfunction that has been underestimated due to difficulties with evaluation. The present study reviews relationships between auditory dysfunction and types of CVD including cerebral infarction, intracerebral hemorrhage, subarachnoid hemorrhage, cerebrovascular malformation, moyamoya disease, and superficial siderosis. Recent advances in the etiology, anatomy, and strategies to diagnose and treat these conditions are described. The numbers of patients with CVD accompanied by auditory dysfunction will increase as the population ages. Cerebrovascular diseases often include the auditory system, resulting in various types of auditory dysfunctions, such as unilateral or bilateral deafness, cortical deafness, pure word deafness, auditory agnosia, and auditory hallucinations, some of which are subtle and can only be detected by precise psychoacoustic and electrophysiological testing. The contribution of CVD to auditory dysfunction needs to be understood because CVD can be fatal if overlooked.

  2. Evoked otoacoustic emissions in patients with Meniere's disease

    NARCIS (Netherlands)

    de Kleine, E; Mateijsen, DJM; Wit, HP; Albers, FWJ

    2002-01-01

    Hypothesis: This study investigated whether otoacoustic emissions (OAEs) in patients with Meniere's disease show abnormal properties. Background: Patients with Meniere's disease experience vertigo. tinnitus, and hearing loss. OAEs are sounds generated in the inner ear. and their presence is associat

  3. Chemokines in CSF of Alzheimer's disease patients

    Directory of Open Access Journals (Sweden)

    Jôice Dias Corrêa

    2011-06-01

    Full Text Available Some studies have linked the presence of chemokines to the early stages of Alzheimer's disease (AD. Then, the identification of these mediators may contribute to diagnosis. Our objective was to evaluate the levels of beta-amyloid (BA, tau, phospho-tau (p-tau and chemokines (CCL2, CXCL8 and CXCL10 in the cerebrospinal fluid (CSF of patients with AD and healthy controls. The correlation of these markers with clinical parameters was also evaluated. The levels of p-tau were higher in AD compared to controls, while the tau/p-tau ratio was decreased. The expression of CCL2 was increased in AD. A positive correlation was observed between BA levels and all chemokines studied, and between CCL2 and p-tau levels. Our results suggest that levels of CCL2 in CSF are involved in the pathogenesis of AD and it may be an additional useful biomarker for monitoring disease progression.

  4. Olfactory training in patients with Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Antje Haehner

    Full Text Available OBJECTIVE: Decrease of olfactory function in Parkinson's disease (PD is a well-investigated fact. Studies indicate that pharmacological treatment of PD fails to restore olfactory function in PD patients. The aim of this investigation was whether patients with PD would benefit from "training" with odors in terms of an improvement of their general olfactory function. It has been hypothesized that olfactory training should produce both an improved sensitivity towards the odors used in the training process and an overall increase of olfactory function. METHODS: We recruited 70 subjects with PD and olfactory loss into this single-center, prospective, controlled non-blinded study. Thirty-five patients were assigned to the olfactory training group and 35 subjects to the control group (no training. Olfactory training was performed over a period of 12 weeks while patients exposed themselves twice daily to four odors (phenyl ethyl alcohol: rose, eucalyptol: eucalyptus, citronellal: lemon, and eugenol: cloves. Olfactory testing was performed before and after training using the "Sniffin' Sticks" (thresholds for phenyl ethyl alcohol, tests for odor discrimination, and odor identification in addition to threshold tests for the odors used in the training process. RESULTS: Compared to baseline, trained PD patients experienced a significant increase in their olfactory function, which was observed for the Sniffin' Sticks test score and for thresholds for the odors used in the training process. Olfactory function was unchanged in PD patients who did not perform olfactory training. CONCLUSION: The present results indicate that olfactory training may increase olfactory sensitivity in PD patients.

  5. Dizziness and progressively poor memory for one year, combined with epilepsy, mental and behavior disorder for 19 days

    Directory of Open Access Journals (Sweden)

    Kun JIANG

    2015-04-01

    Full Text Available It is well known that neurosyphilis has various brain MRI manifestations. In this report, we present a rare case with DWI lace-like high signal in cerebral cortex, which is usually seen in Creutzfeldt-Jakob disease (CJD. A 50-year-old male developed dizziness, poor memory, seizures, mental and behavioral disorders, and was admitted to our Emergency Department, where he experienced sudden left hemiplegia. Rapid plasma regain (RPR and treponema pallidum particle agglutination assay (TPPA was positive in blood and cerebrospinal fluid (CSF. CSF: 14-3-3 protein (+. Brain MRI showed high FLAIR signals in the right frontal lobe, temporal lobe, insular lobe, occipital lobe and thalamus before the treatment. As for this patient, it was difficult to differentiate CJD from neurosyphilis at first. He was given penicillin treatment and responded well. Those lesions in brain MRI decreased after treatment. This case was reported to raise the awareness of early treatment of neruosyphilis and showed a special DWI lace-like image of this disease. DOI: 10.3969/j.issn.1672-6731.2015.04.016

  6. The efficacy of tetracyclines in peripheral and intracerebral prion infection.

    Directory of Open Access Journals (Sweden)

    Ada De Luigi

    Full Text Available We have previously shown that tetracyclines interact with and reverse the protease resistance of pathological prion protein extracted from scrapie-infected animals and patients with all forms of Creutzfeldt-Jakob disease, lowering the prion titre and prolonging survival of cerebrally infected animals. To investigate the effectiveness of these drugs as anti-prion agents Syrian hamsters were inoculated intramuscularly or subcutaneously with 263K scrapie strain at a 10(-4 dilution. Tetracyclines were injected intramuscularly or intraperitoneally at the dose of 10 mg/kg. A single intramuscular dose of doxycycline one hour after infection in the same site of inoculation prolonged median survival by 64%. Intraperitoneal doses of tetracyclines every two days for 40 or 44 days increased survival time by 25% (doxycycline, 32% (tetracycline; and 81% (minocycline after intramuscular infection, and 35% (doxycycline after subcutaneous infection. To extend the therapeutic potential of tetracyclines, we investigated the efficacy of direct infusion of tetracyclines in advanced infection. Since intracerebroventricular infusion of tetracycline solutions can cause overt acute toxicity in animals, we entrapped the drugs in liposomes. Animals were inoculated intracerebrally with a 10(-4 dilution of the 263K scrapie strain. A single intracerebroventricular infusion of 25 microg/20 microl of doxycycline or minocycline entrapped in liposomes was administered 60 days after inoculation, when 50% of animals showed initial symptoms of the disease. Median survival increased of 8.1% with doxycycline and 10% with minocycline. These data suggest that tetracyclines might have therapeutic potential for humans.

  7. The Efficacy of Tetracyclines in Peripheral and Intracerebral Prion Infection

    Science.gov (United States)

    De Luigi, Ada; Colombo, Laura; Diomede, Luisa; Capobianco, Raffaella; Mangieri, Michela; Miccolo, Claudia; Limido, Lucia; Forloni, Gianluigi; Tagliavini, Fabrizio; Salmona, Mario

    2008-01-01

    We have previously shown that tetracyclines interact with and reverse the protease resistance of pathological prion protein extracted from scrapie-infected animals and patients with all forms of Creutzfeldt-Jakob disease, lowering the prion titre and prolonging survival of cerebrally infected animals. To investigate the effectiveness of these drugs as anti-prion agents Syrian hamsters were inoculated intramuscularly or subcutaneously with 263K scrapie strain at a 10−4 dilution. Tetracyclines were injected intramuscularly or intraperitoneally at the dose of 10 mg/kg. A single intramuscular dose of doxycycline one hour after infection in the same site of inoculation prolonged median survival by 64%. Intraperitoneal doses of tetracyclines every two days for 40 or 44 days increased survival time by 25% (doxycycline), 32% (tetracycline); and 81% (minocycline) after intramuscular infection, and 35% (doxycycline) after subcutaneous infection. To extend the therapeutic potential of tetracyclines, we investigated the efficacy of direct infusion of tetracyclines in advanced infection. Since intracerebroventricular infusion of tetracycline solutions can cause overt acute toxicity in animals, we entrapped the drugs in liposomes. Animals were inoculated intracerebrally with a 10−4 dilution of the 263K scrapie strain. A single intracerebroventricular infusion of 25 µg/ 20 µl of doxycycline or minocycline entrapped in liposomes was administered 60 days after inoculation, when 50% of animals showed initial symptoms of the disease. Median survival increased of 8.1% with doxycycline and 10% with minocycline. These data suggest that tetracyclines might have therapeutic potential for humans. PMID:18365024

  8. Nerve Growth Factor Increases mRNA Levels for the Prion Protein and the β -amyloid Protein Precursor in Developing Hamster Brain

    Science.gov (United States)

    Mobley, William C.; Neve, Rachael L.; Prusiner, Stanley B.; McKinley, Michael P.

    1988-12-01

    Deposition of amyloid filaments serves as a pathologic hallmark for some neurodegenerative disorders. The prion protein (PrP) is found in amyloid of animals with scrapie and humans with Creutzfeldt-Jakob disease; the β protein is present in amyloid deposits in Alzheimer disease and Down syndrome patients. These two proteins are derived from precursors that in the brain are expressed primarily in neurons and are membrane bound. We found that gene expression for PrP and the β -protein precursor (β -PP) is regulated in developing hamster brain. Specific brain regions showed distinct patterns of ontogenesis for PrP and β -PP mRNAs. The increases in PrP and β -PP mRNAs in developing basal forebrain coincided with an increase in choline acetyltransferase activity, raising the possibility that these markers might be coordinately controlled in cholinergic neurons and regulated by nerve growth factor (NGF). Injections of NGF into the brains of neonatal hamsters increased both PrP and β -PP mRNA levels. Increased PrP and β -PP mRNA levels induced by NGF were confined to regions that contain NGF-responsive cholinergic neurons and were accompanied by elevations in choline acetyltransferase. It remains to be established whether or not exogenous NGF acts to increase PrP and β -PP gene expression selectively in forebrain cholinergic neurons in the developing hamster and endogenous NGF regulates expression of these genes.

  9. α-Synuclein Amyloids Hijack Prion Protein to Gain Cell Entry, Facilitate Cell-to-Cell Spreading and Block Prion Replication.

    Science.gov (United States)

    Aulić, Suzana; Masperone, Lara; Narkiewicz, Joanna; Isopi, Elisa; Bistaffa, Edoardo; Ambrosetti, Elena; Pastore, Beatrice; De Cecco, Elena; Scaini, Denis; Zago, Paola; Moda, Fabio; Tagliavini, Fabrizio; Legname, Giuseppe

    2017-08-30

    The precise molecular mechanism of how misfolded α-synuclein (α-Syn) accumulates and spreads in synucleinopathies is still unknown. Here, we show the role of the cellular prion protein (PrP(C)) in mediating the uptake and the spread of recombinant α-Syn amyloids. The in vitro data revealed that the presence of PrP(C) fosters the higher uptake of α-Syn amyloid fibrils, which was also confirmed in vivo in wild type (Prnp (+/+)) compared to PrP knock-out (Prnp (-/-)) mice. Additionally, the presence of α-Syn amyloids blocked the replication of scrapie prions (PrP(Sc)) in vitro and ex vivo, indicating a link between the two proteins. Indeed, whilst PrP(C) is mediating the internalization of α-Syn amyloids, PrP(Sc) is not able to replicate in their presence. This observation has pathological relevance, since several reported case studies show that the accumulation of α-Syn amyloid deposits in Creutzfeldt-Jakob disease patients is accompanied by a longer disease course.

  10. [Transition experience of patients with neuromuscular disease].

    Science.gov (United States)

    Greif, Valeria; Ugo, Florencia; de Castro Pérez, M Fernanda; Mozzoni, Julieta; Aguerre, Verónica; Saldías, Milagros; Monges, M Soledad

    2017-02-01

    Neuromuscular diseases are mostly genetic disorders, with chronic and progressive course. Affected people are at high risk of developing physical and emotional disabilities. In the last decades, the advance in technology and science has increased chronic pediatric patients survival rate, thus requiring an ongoing assistance in adult hospitals, making the transition a necessity and a challenge. This article reports the clinical practice designed between Hospital Garrahan and Hospital Ramos Mejía for the transition of 27 adolescents during 2015, setting achievements, findings and challenges resulting from this experience.

  11. [Autoimmune Associated Encephalitis and Dementia].

    Science.gov (United States)

    Watanabe, Osamu

    2016-04-01

    Antibodies against various neural surface antigens induce cognitive impairments. Anti-VGKC (voltage gated potassium channel) complex antibodies are well known as one of the causative autoantibodies. An anti-VGKC antibody was identified as the autoantibody in acquired neuromyotonia (Isaacs' syndrome), which causes muscle cramps and difficulty in opening the palm of the hands. However, this antibody also tests positive in autoimmune limbic encephalitis, which has a subacute progress and causes poor memory or epilepsy attacks. Typical cases have a distinctive adult-onset, frequent, brief dystonic seizure semiology that predominantly affects the arms and ipsilateral face. It has now been termed faciobrachial dystonic seizures. In recent years, the true target antigens of the anti-VGKC antibody of this VGKC limbic encephalitis have been recognized as leucine rich glioma inactivated protein (LGI)-1 and others. These antibodies to amnesia-related LGI-1 in limbic encephalitis neutralize the LGI-1-ADAM22 (an anchor protein) interaction and reduce synaptic AMPA receptors. There have been reports of limbic encephalitis associated with anti-VGKC complex antibodies mimicking Creutzfeldt-Jakob disease (CJD). Less than 2% of the patients with sporadic CJD (sCJD) develop serum anti-VGKC complex antibodies and, when positive, only at low titres. Low titres of these antibodies occur only rarely in suspected patients with sCJD, and when present, should be interpreted with caution.

  12. Lower Muscle Endurance in Patients with Alcoholic Liver Disease

    Science.gov (United States)

    Andersen, Henning; Aagaard, Niels K.; Jakobsen, Johannes; Dorup, Inge; Vilstrup, Hendrik

    2012-01-01

    Patients with alcoholic liver disease often complain of restricted physical capacity, which could be due to decreased muscle endurance. The aim of this study was to assess the muscular endurance in patients with alcoholic liver disease. In a cross sectional study, 24 patients with alcoholic liver disease and 22 controls were evaluated using…

  13. Lower Muscle Endurance in Patients with Alcoholic Liver Disease

    Science.gov (United States)

    Andersen, Henning; Aagaard, Niels K.; Jakobsen, Johannes; Dorup, Inge; Vilstrup, Hendrik

    2012-01-01

    Patients with alcoholic liver disease often complain of restricted physical capacity, which could be due to decreased muscle endurance. The aim of this study was to assess the muscular endurance in patients with alcoholic liver disease. In a cross sectional study, 24 patients with alcoholic liver disease and 22 controls were evaluated using…

  14. Cerebral microbleeds in patients with Parkinson's disease.

    Science.gov (United States)

    Ham, Jee Hyun; Yi, Han; Sunwoo, Mun Kyung; Hong, Jin Yong; Sohn, Young H; Lee, Phil Hyu

    2014-08-01

    Cerebral microbleeds (CMBs) are known to be associated with cognitive impairments in the elderly and in patients with various diseases; however, the nature of this association has not yet been evaluated in Parkinson's disease (PD). In the present study, we analyzed the incidence of CMBs in PD according to cognitive status, and the impact of CMBs on cognitive performance was also evaluated. The CMBs in PD with dementia (n = 36), mild cognitive impairment (MCI, n = 46), or cognitively normal (n = 41) were analyzed using conventional T2*-weighted gradient-recalled echo images. Additionally, the relationship between the presence of CMBs and cognitive performance on individual tests of cognitive subdomains was analyzed using a detailed neuropsychological test. CMBs occurred more frequently in PD patients with dementia (36.1 %) compared to those with MCI (15.2 %), those who are cognitively normal (14.6 %), and normal controls (12.2 %, p = 0.025). However, the significant association of CMBs with PD dementia disappeared after adjusting white matter hyperintensities (WMHs) as a covariate. The frequencies of deep, lobar, and infratentorial CMBs did not differ among the four groups. After adjusting for age, sex, years of education, and WMHs, PD patients with CMBs had poorer performance in attention domain compared with those without CMBs (34.9 vs 42.6, p = 0.018). The present data demonstrate that even though CMBs were inseparably associated with the presence of WMHs, CMBs occur more commonly in PD patients with dementia than in those without dementia. Additionally, the burden of CMBs may contribute to further cognitive impairment in PD.

  15. Famous Stone Patients and Their Disease

    Science.gov (United States)

    Moran, Michael E.

    2007-04-01

    The fact that stone patients have endured much throughout the ages and that prior to our current era, when the ultimate horror, "being cut for the stone" was the only alternative to the repeated episodes of colic, should be recalled from time to time. Urolithiasis has affected humanity throughout the ages and has been indiscriminate to those lives it touched. A full accounting of those who have suffered and recorded their agonies is beyond the scope of this investigation; however, even a partial accounting is valuable for present day physicians who care for those with stone disease. For the present work, the historical accounts of stone disease literature were scrutinized for individual sufferers who could be cross-referenced from other sources as legitimately afflicted by stones. Only those patients that could be documented and were (or are) well known were included, because the internet is now a verdant repository of thousands of "not so well knowns." Reliable historical data was found for a variety of persons from the pre-Christian era to the present, including those remembered as philosophers and scientists, physicians, clergy, leaders and rulers, entertainers, athletes and fictitious/Hollywood-type individuals. Verified accounts of famous stone formers were chosen for this paper, and are presented in chronological order. The list of urolithiasis sufferers presented here is undoubtedly incomplete, but it is not through lack of trying that they are missing. Most often, the suffering do so silently, and that is always allowed.

  16. Spinal Surgery Complications and Failures in Patients with Parkinsons Disease.

    Science.gov (United States)

    Sapkas, George S; Mavrogenis, Andreas F; Papastathis, Elias; Tsiavos, Kostas; Igoumenou, Vasilios; Megaloikonomos, Panayiotis D; Galanopoulos, Ioannis; Soultanis, Konstantinos; Papadopoulos, Elias C; Papagelopoulos, Panayiotis J

    2016-01-01

    Parkinson's disease is a degenerative disorder of the central nervous system affecting the substantia nigra in the midbrain. It accounts for 1.5% of the population in Europe over 60 years of age. Recent advances in the medical treatment of Parkinson's disease have improved the quality of life and life expectancy of the patients. However, it remains a debilitating disease. Spinal disorders are frequent in these patients, and as the population ages, more patients with Parkinson's disease are expected to require spinal surgery. Spinal surgery in patients with Parkinson's disease has been associated with an exceptionally high rate of complications; failures and reoperations are common, and patient outcomes are dismal.

  17. Hans Jacob and brain research on Hamburg "euthanasia" victims: "Awaiting further brains!"

    Science.gov (United States)

    Zeidman, Lawrence A

    2017-03-14

    Several neuropathologists conducted brain research on victims of so-called euthanasia programs carried out by the National Socialist (Nazi) regime in Germany from 1940 to 1945. Some published their results in German journals or books during and after the war. One of these neuropathologists was Hans Jacob of Hamburg, a former Nazi party member and the leader of the same laboratory previously run by Alfons Jakob (Creutzfeldt-Jakob disease). Though much has been published on the unethical actions of Jacob's fellow neuropathologist from Berlin, Julius Hallervorden, Jacob's actions were remarkably similar and have not been previously analyzed in the neuroscience literature. Jacob dissected at least 42 patient brains from euthanasia centers near Hamburg, and saved the specimens from at least 17 of them. He published a 1956 book chapter featuring 2 such specimens. Jacob was denazified, had a notable career, and never publicly addressed his actions during the war. His ethical violations may not have been on the same scale as Hallervorden's, but the effect of his work echoes to the modern era. As responsible researchers, we must always be conscious of the provenance of material provided and not succumb to opportunistic temptation despite the ethical consequences. © 2017 American Academy of Neurology.

  18. Exploring employment in consultation reports of patients with neuromuscular diseases

    NARCIS (Netherlands)

    Heerkens, Yvonne; Kuyk-Minis, Marie Antoinette van; Cup, Edith; Engels, Josephine; Engelen, Baziel van; Oostendorp, Rob

    2012-01-01

    To explore consultation reports for patient and employment characteristics and recommendations on employment regarding patients with neuromuscular diseases (NMDs). Eighty percent of the included consultation reports contained information on employment. Less than half the patients with NMD were emplo

  19. Exploring employment in consultation reports of patients with neuromuscular diseases

    NARCIS (Netherlands)

    Minis, M.A.H; Cup, E.H.C.; Heerkens, Y.F.; Engels, J.A.; Engelen, B.G. van; Oostendorp, R.A.B.

    2012-01-01

    Minis MA, Cup EH, Heerkens YF, Engels JA, van Engelen BG, Oostendorp RA. Exploring employment in consultation reports of patients with neuromuscular diseases. OBJECTIVES: To explore consultation reports for patient and employment characteristics and recommendations on employment regarding patients

  20. Script representation in patients with Alzheimer's disease.

    Science.gov (United States)

    Allain, Philippe; Le Gall, Didier; Foucher, Céline; Etcharry-Bouyx, Frédérique; Barré, Jean; Dubas, Frédéric; Berrut, Gilles

    2008-03-01

    We examined script representation in 26 patients with Alzheimer's disease (AD) compared to 31 healthy elderly subjects (HE). Participants were asked to sort cards describing actions belonging to eight scripts according to the script to which they belonged and according to their order of execution. Each script included actions which were low in centrality and distinctiveness (non-central actions and non-distinctive actions--NCA & NDA), and which were high in centrality (central actions--CA), distinctiveness (distinctive actions--DA), centrality and distinctiveness (central actions and distinctive action--CA & DA). These actions were presented in three conditions. In the first condition (scripts with headers--SH), the 43 actions belonging to three different scripts were given with each script header written on separate cards. The second condition (scripts without headers--SwH) used 46 actions belonging to three other scripts, but no script header was provided. In the third condition (scripts with distractor header--SDH), the 28 actions belonging to two other scripts were given with each script header and a distractor header written on separate cards. The results showed that performance of subjects with AD was significantly lower in all conditions. Overall, AD patients made significantly more sequencing errors than HE subjects. AD patients also committed significantly more sorting errors than HE subjects for all types of actions (NCA & NDA, CA, DA, CA & DA). These data are consistent with the view that AD produces impairment of both the syntactic and semantic dimensions of script representation.

  1. INTESTINAL PERMEABILITY IN PATIENTS WITH CELIAC-DISEASE AND RELATIVES OF PATIENTS WITH CELIAC-DISEASE

    NARCIS (Netherlands)

    VANELBURG, RM; UIL, JJ; MULDER, CJJ; HEYMANS, HSA

    The functional integrity of the small bowel is impaired in coeliac disease. Intestinal permeability, as measured by the sugar absorption test probably reflects this phenomenon. In the sugar absorption test a solution of lactulose and mannitol was given to the fasting patient and the

  2. INTESTINAL PERMEABILITY IN PATIENTS WITH CELIAC-DISEASE AND RELATIVES OF PATIENTS WITH CELIAC-DISEASE

    NARCIS (Netherlands)

    VANELBURG, RM; UIL, JJ; MULDER, CJJ; HEYMANS, HSA

    1993-01-01

    The functional integrity of the small bowel is impaired in coeliac disease. Intestinal permeability, as measured by the sugar absorption test probably reflects this phenomenon. In the sugar absorption test a solution of lactulose and mannitol was given to the fasting patient and the lactulose/mannit

  3. Expression of periodontal interleukin-6 protein is increased across patients with neither periodontal disease nor diabetes, patients with periodontal disease alone and patients with both diseases

    Science.gov (United States)

    Ross, Jonathan H.; Hardy, Douglas Crane; Schuyler, Corinne A.; Slate, Elizabeth H.; Huang, Yan

    2010-01-01

    Background and objectives Epidemiological studies have established that patients with diabetes have an increased prevalence and severity of periodontal disease. Interleukin (IL)-6, a multifunctional cytokine, plays a role in the tissue inflammation that characterizes periodontal disease. Our recent study has shown a trend of increase in periodontal IL-6 expression at the mRNA level across patients with neither periodontal disease nor diabetes, patients with periodontal disease alone and patients with both diseases. However, the periodontal IL-6 expression at the protein level in these patients has not been investigated. Material and Methods Periodontal tissue specimens were collected from eight patients without periodontal disease and diabetes (group 1), from 17 patients with periodontal disease alone (group 2) and from 10 patients with both periodontal disease and diabetes (group 3). The frozen sections were prepared from these tissue specimens and IL-6 protein expression was detected and quantified. Results The nonparametric Kruskal-Wallis test showed that differences in IL-6 protein levels among the three groups were statistically significant (p = 0.035). Nonparametric analysis using Jonckheere-Terpstra test showed a tendency of increase in periodontal IL-6 protein levels across group 1 to group 2 to group 3 (p = 0.006). Parametric analysis of variance (ANOVA) on IL-6 protein levels showed that neither age nor gender significantly affected the difference of IL-6 levels among the groups. Conclusion Periodontal IL-6 expression at the protein level is increased across patients with neither periodontal disease nor diabetes, patients with periodontal disease alone, and patients with both diseases. PMID:20682019

  4. Advanced glycation end products in patients with peripheral artery disease

    OpenAIRE

    de Vos, Lisanne Carlijn

    2016-01-01

    Peripheral artery disease (PAD) is a disease in which stenosis or occlusion occurs of the arteries of the lower limbs. The most common underlying disease is atherosclerosis. The main presenting symptom of these patients is intermittent claudication, which is typical leg pain during walking that disappears during rest. Patients with progressed disease may suffer from rest pain, ulcers and are at risk for amputation. An estimated prevalence of the patients suffering from PAD is 200 million, whi...

  5. Gallbladder bile composition in patients with Crohn's disease

    Institute of Scientific and Technical Information of China (English)

    Annika Lapidus; Jan-Erik (A)kerlund; Curt Einarsson

    2006-01-01

    AIM: To further elucidate the pathogenesis and mechanisms of the high risk of gallstone formation in Crohn's disease.METHODS: Gallbladder bile was obtained from patients with Crohn's disease who were admitted for elective surgery (17 with ileallileocolonic disease and 7 with Crohn's colitis). Fourteen gallstone patients served as controls. Duodenal bile was obtained from ten healthy subjects before and after the treatment with ursodeoxycholic acid. Bile was analyzed for biliary lipids,bile acids, bilirubin, crystals, and crystal detection time (CDT). Cholesterol saturation index was calculated.RESULTS: The biliary concentration of bilirubin was about 50% higher in patients with Crohn's disease than in patients with cholesterol gallstones. Ten of the patients with Crohn's disease involving ileum and three of those with Crohn's colitis had cholesterol saturated bile. Four patients with ileal disease and one of those with colonic disease displayed cholesterol crystals in their bile. About 1/3 of the patients with Crohn's disease had a short CDT. Treatment of healthy subjects with ursodeoxycholic acid did not increase the concentration of bilirubin in duodenal bile. Several patients with Crohn's disease,with or without ileal resection/disease had gallbladder bile supersaturated with cholesterol and short CDT and contained cholesterol crystals. The biliary concentration of bilirubin was also increased in patients with Crohn's colitis probably not due to bile acid malabsorption.CONCLUSION: Several factors may be of importance for the high risk of developing gallstones of both cholesterol and pigment types in patients with Crohn's disease.

  6. Blood Transfusion Therapy in Patients with Heart Disease.

    Science.gov (United States)

    1982-04-07

    good health will not require the same transfusion therapy as patients with valvular heart disease who have congestive heart failure and...normal red cell volume and normal red cell oxygen transport function. 1 ,13 When the patient has valvular heart disease or myo- cardiopathy with...cardio- pulmonary bypass patients and in patients with severe valvular heart disease . Blood 1978;52:13-23. : 81. 197. Frledenberg WR, Myers WO, Plotka

  7. Role of hepatic resection for patients with carcinoid heart disease

    DEFF Research Database (Denmark)

    Bernheim, A.M.; Connolly, H.M.; Rubin, J.;

    2008-01-01

    OBJECTIVE: To evaluate the effects of resection of hepatic carcinoid metastases on progression and prognosis of carcinoid heart disease. PATIENTS AND METHODS: From our database of 265 consecutive patients diagnosed as having carcinoid heart disease from January 1, 1980, through December 31, 2005...... nonrandomized study, our data suggest that patients with carcinoid heart disease who undergo hepatic resection have decreased cardiac progression and improved prognosis. Eligible patients should be considered for hepatic surgery Udgivelsesdato: 2008/2...

  8. Life style modification for patients with ischemic heart disease.

    Science.gov (United States)

    Mahalingam, V

    2013-01-01

    With a view to assess the effectiveness of lifestyle modification in patients with ischemic heart disease, a quasi-experimental study with quantitative approach was undertaken on 60 patients of ischemic heart disease. Purposive sampling technique was used in selecting the patients. The results showed that educating the patients about cessation of smoking, taking proper diet, anxiety reduction and counselling helped in preventing the progression of ischaemic heart disease.

  9. Time estimation in mild Alzheimer's disease patients

    Directory of Open Access Journals (Sweden)

    Nichelli Paolo

    2009-07-01

    Full Text Available Abstract Background Time information processing relies on memory, which greatly supports the operations of hypothetical internal timekeepers. Scalar Expectancy Theory (SET postulates the existence of a memory component that is functionally separated from an internal clock and other processing stages. SET has devised several experimental procedures to map these cognitive stages onto cerebral regions and neurotransmitter systems. One of these, the time bisection procedure, has provided support for a dissociation between the clock stage, controlled by dopaminergic systems, and the memory stage, mainly supported by cholinergic neuronal networks. This study aimed at linking the specific memory processes predicted by SET to brain mechanisms, by submitting time bisection tasks to patients with probable Alzheimer's disease (AD, that are known to present substantial degeneration of the fronto-temporal regions underpinning memory. Methods Twelve mild AD patients were required to make temporal judgments about intervals either ranging from 100 to 600 ms (short time bisection task or from 1000 to 3000 ms (long time bisection task. Their performance was compared with that of a group of aged-matched control participants and a group of young control subjects. Results Long time bisection scores of AD patients were not significantly different from those of the two control groups. In contrast, AD patients showed increased variability (as indexed by increased WR values in timing millisecond durations and a generalized inconsistency of responses over the same interval in both the short and long bisection tasks. A similar, though milder, decreased millisecond interval sensitivity was found for elderly subjects. Conclusion The present results, that are consistent with those of previous timing studies in AD, are interpreted within the SET framework as not selectively dependent on working or reference memory disruptions but as possibly due to distortions in different

  10. Managing patients for zoonotic disease in hospitals

    Science.gov (United States)

    Warwick, Clifford; Corning, Susan

    2013-01-01

    Zoonoses involve infections and infestations transmissible from animals to humans. Zoonoses are a major global threat. Exposure to zoonotic pathogens exists in various settings including encroachment on nature; foreign travel; pet keeping; bushmeat consumption; attendance at zoological parks, petting zoos, school ‘animal contact experiences’, wildlife markets, circuses, and domesticated and exotic animal farms. Under-ascertainment is believed to be common and the frequency of some zoonotic disease appears to be increasing. Zoonoses include direct, indirect and aerosolized transmission. Improved awareness of zoonoses in the hospital environment may be important to the growing need for prevention and control. We reviewed relevant literature for the years 2000 to present and identified a significant need for the promotion of awareness and management of zoonoses in the hospital environment. This article provides a new decision-tree, as well as staff and patient guidance on the prevention and control of zoonoses associated with hospitals. PMID:24040497

  11. Social support for patients with allergic diseases.

    Science.gov (United States)

    Latalski, Maciej; Makara-Studzińska, Marta; Gajewska, Marzena; Rudnicka-Drozak, Ewa

    2002-01-01

    In recent years special attention has been paid to the issue of social support. So far there has been no special, applied, definition that would explicitly describe what social support is indeed. It results from the fact that the issue of social support has been of interest for numerous disciplines of science that have own fields of research and practical application. These are, among others, psychology, sociology, pedagogy, medicine. The objective of the study is an attempt to analyze the level of social support by people with allergic diseases. The research instrument was a self-structured inquiry sheet consisting of 25 questions and socio-demographic details. The strongest support for the patients was offered by the closest family (84%), followed by friends (51%), further members of the family (28.8%), acquaintances (26%) and institutions (14.4%).

  12. Technology innovation for patients with kidney disease.

    Science.gov (United States)

    Mitsides, Nicos; Keane, David F; Lindley, Elizabeth; Mitra, Sandip

    2014-01-01

    The loss of kidney function is a life-changing event leading to life-long dependence on healthcare. Around 5000 people are diagnosed with kidney failure every year. Historically, technology in renal medicine has been employed for replacement therapies. Recently, a lot of emphasis has been placed on technologies that aid early identification and prevent progression of kidney disease, while at the same time empowering affected individuals to gain control over their chronic illness. There is a shift in diversity of technology development, driven by collaborative innovation initiatives such the National Institute's for Health Research Healthcare Technology Co-operative for Devices for Dignity. This has seen the emergence of the patient as a key figure in designing technologies that are fit for purpose, while business involvement has ensured uptake and sustainability of these developments. An embodiment of this approach is the first successful Small Business Research Initiative in the field of renal medicine in the UK.

  13. Invasive Aspergillus infections in hospitalized patients with chronic lung disease

    Directory of Open Access Journals (Sweden)

    Wessolossky M

    2013-05-01

    Full Text Available Mireya Wessolossky,1 Verna L Welch,2 Ajanta Sen,1 Tara M Babu,1 David R Luke21Division of Infectious Diseases, University of Massachusetts Medical School, Worcester, MA, USA; 2Medical Affairs, Pfizer Inc, Collegeville, PA, USABackground: Although invasive pulmonary aspergillosis (IPA is more prevalent in immunocompromised patients, critical care clinicians need to be aware of the occurrence of IPA in the nontraditional host, such as a patient with chronic lung disease. The purpose of this study was to describe the IPA patient with chronic lung disease and compare the data with that of immunocompromised patients.Methods: The records of 351 patients with Aspergillus were evaluated in this single-center, retrospective study for evidence and outcomes of IPA. The outcomes of 57 patients with chronic lung disease and 56 immunocompromised patients were compared. Patients with chronic lung disease were defined by one of the following descriptive terms: emphysema, asthma, idiopathic lung disease, bronchitis, bronchiectasis, sarcoid, or pulmonary leukostasis.Results: Baseline demographics were similar between the two groups. Patients with chronic lung disease were primarily defined by emphysema (61% and asthma (18%, and immunocompromised patients primarily had malignancies (27% and bone marrow transplants (14%. A higher proportion of patients with chronic lung disease had a diagnosis of IPA by bronchoalveolar lavage versus the immunocompromised group (P < 0.03. The major risk factors for IPA were found to be steroid use in the chronic lung disease group and neutropenia and prior surgical procedures in the immunocompromised group. Overall, 53% and 69% of chronic lung disease and immunocompromised patients were cured (P = 0.14; 55% of chronic lung patients and 47% of immunocompromised patients survived one month (P = 0.75.Conclusion: Nontraditional patients with IPA, such as those with chronic lung disease, have outcomes and mortality similar to that in the

  14. The Detection of Bovine - Derived Material in Import Meat and Bone Meal by PCR and Microwell Plate Hybridization%进口肉骨粉及动物饲料中牛源性成分的PCR-微孔板杂交检测方法

    Institute of Scientific and Technical Information of China (English)

    王静; 徐宝梁; 王丙武; 王曙光; 杨瑞馥; 张敏丽

    2001-01-01

    @@ 疯牛病(Mad-Cow Disease)即牛海绵状脑病(Bovine Spongiform Encephlopathy,BSE),已被证实与人的克雅氏病(Creutzfeldt Jakob Disease,CJD)有直接关联.人如果食用感染了疯牛病病原的牛肉,就会患上克雅氏病,造成永久性的脑部损伤,脑组织形成海绵状空洞,导致精神错乱、痴呆,最终死亡.

  15. Thyroid Disease in the Older Patient

    Science.gov (United States)

    ... a brother, sister or child of the patient. HYPERTHYROIDISM IN THE OLDER PATIENT As in all hyperthyroid ... and family. TREATMENT OF THE OLDER PATIENT WITH HYPERTHYROIDISM As with younger patients, treatment of hyperthyroidism in ...

  16. Celiac disease markers in patients with liver diseases: A single center large scale screening study

    Institute of Scientific and Technical Information of China (English)

    Pavel Drastich; Eva Honsová; Alena Lodererová; Marcela Jare(s)ová; Aneta Pekáriková; Iva Hoffmanová; Ludmila Tu(c)ková

    2012-01-01

    AIM:To study the coincidence of celiac disease,we tested its serological markers in patients with various liver diseases.METHODS:Large-scale screening of serum antibodies against tissue transglutaminase (tTG),and deamidated gliadin using enzyme-linked immunosorbent assay and serum antibodies against endomysium using immunohistochemistry,in patients with various liver diseases (n =962) and patients who underwent liver transplantation (OLTx,n =523) was performed.The expression of tTG in liver tissue samples of patients simultaneously suffering from celiac disease and from various liver diseases using immunohistochemistry was carried out.The final diagnosis of celiac disease was confirmed by histological analysis of small-intestinal biopsy.RESULTS:We found that 29 of 962 patients (3%) with liver diseases and 5 of 523 patients (0.8%) who underwent OLTx were seropositive for IgA and IgG anti-tTG antibodies.However,celiac disease was biopsy-diagnosed in 16 patients:4 with autoimmune hepatitis type Ⅰ,3 with Wilson's disease,3 with celiac hepatitis,2 with primary sclerosing cholangitis,1with primary biliary cirrhosis,1 with Budd-Chiari syndrome,1 with toxic hepatitis,and 1 with non-alcoholic steatohepatitis.Unexpectedly,the highest prevalence of celiac disease was found in patients with Wilson's disease (9.7%),with which it is only rarely associated.On the other hand,no OLTx patients were diagnosed with celiac disease in our study.A pilot study of the expression of tTG in liver tissue using immunohistochemistry documented the overexpression of this molecule in endothelial cells and periportal hepatocytes of patients simultaneously suffering from celiac disease and toxic hepatitis,primary sclerosing cholangitis or autoimmune hepatitis type Ⅰ.CONCLUSION:We suggest that screening for celiac disease may be beneficial not only in patients with associated liver diseases,but also in patients with Wilson's disease.

  17. Managing Acute Complications Of Sickle Cell Disease In Pediatric Patients.

    Science.gov (United States)

    Subramaniam, Sathyaseelan; Chao, Jennifer H

    2016-11-01

    Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management. Patients with sickle cell trait generally have a benign course, but are also subject to serious complications. This issue provides a current review of evidence-based management of the most common acute complications of sickle cell disease seen in pediatric patients in the emergency department.

  18. Dobutamine Stress Echocardiography Safety in Chagas Disease Patients

    Directory of Open Access Journals (Sweden)

    Daniela do Carmo Rassi

    Full Text Available Abstract Background: A few decades ago, patients with Chagas disease were predominantly rural workers, with a low risk profile for obstructive coronary artery disease (CAD. As urbanization has increased, they became exposed to the same risk factors for CAD of uninfected individuals. Dobutamine stress echocardiography (DSE has proven to be an important tool in CAD diagnosis. Despite being a potentially arrhythmogenic method, it is safe for coronary patients without Chagas disease. For Chagas disease patients, however, the indication of DSE in clinical practice is uncertain, because of the arrhythmogenic potential of that heart disease. Objectives: To assess DSE safety in Chagas disease patients with clinical suspicion of CAD, as well as the incidence of arrhythmias and adverse events during the exam. Methods: Retrospective analysis of a database of patients referred for DSE from May/2012 to February/2015. This study assessed 205 consecutive patients with Chagas disease suspected of having CAD. All of them had their serology for Chagas disease confirmed. Results: Their mean age was 64±10 years and most patients were females (65.4%. No patient had significant adverse events, such as acute myocardial infarction, ventricular fibrillation, asystole, stroke, cardiac rupture and death. Regarding arrhythmias, ventricular extrasystoles occurred in 48% of patients, and non-sustained ventricular tachycardia in 7.3%. Conclusion: DSE proved to be safe in this population of Chagas disease patients, in which no potentially life-threatening outcome was found.

  19. Dobutamine Stress Echocardiography Safety in Chagas Disease Patients

    Science.gov (United States)

    Rassi, Daniela do Carmo; Vieira, Marcelo Luiz Campos; Furtado, Rogerio Gomes; Turco, Fabio de Paula; Melato, Luciano Henrique; Hotta, Viviane Tiemi; Nunes, Colandy Godoy de Oliveira; Rassi Jr., Luiz; Rassi, Salvador

    2017-01-01

    Background A few decades ago, patients with Chagas disease were predominantly rural workers, with a low risk profile for obstructive coronary artery disease (CAD). As urbanization has increased, they became exposed to the same risk factors for CAD of uninfected individuals. Dobutamine stress echocardiography (DSE) has proven to be an important tool in CAD diagnosis. Despite being a potentially arrhythmogenic method, it is safe for coronary patients without Chagas disease. For Chagas disease patients, however, the indication of DSE in clinical practice is uncertain, because of the arrhythmogenic potential of that heart disease. Objectives To assess DSE safety in Chagas disease patients with clinical suspicion of CAD, as well as the incidence of arrhythmias and adverse events during the exam. Methods Retrospective analysis of a database of patients referred for DSE from May/2012 to February/2015. This study assessed 205 consecutive patients with Chagas disease suspected of having CAD. All of them had their serology for Chagas disease confirmed. Results Their mean age was 64±10 years and most patients were females (65.4%). No patient had significant adverse events, such as acute myocardial infarction, ventricular fibrillation, asystole, stroke, cardiac rupture and death. Regarding arrhythmias, ventricular extrasystoles occurred in 48% of patients, and non-sustained ventricular tachycardia in 7.3%. Conclusion DSE proved to be safe in this population of Chagas disease patients, in which no potentially life-threatening outcome was found. PMID:28099588

  20. Mycosis fungoides - Disease evolution and prognosis of 309 Dutch patients

    NARCIS (Netherlands)

    van Doorn, R; Van Haselen, CW; Vader, PCV; Geerts, ML; Heule, F; de Rie, M; Steijlen, PM; Dekker, SK; van Vloten, WA; Willemze, R

    2000-01-01

    Objectives: To determine the disease course of Dutch patients with mycosis fungoides and to define factors related to disease progression and survival. Design: A multicenter, 13-year, retrospective cohort analysis. Setting: Eight dermatology departments collaborating in the Dutch Cutaneous Lymphoma

  1. Sympathetic hyperactivity in patients with chronic kidney disease

    NARCIS (Netherlands)

    Neumann, N.

    2007-01-01

    Sympathetic hyperactivity in patients with chronic kidney disease Chronic kidney disease (CKD) is often characterized by the presence of sympathetic hyperactivity. This contributes to the pathogenesis of renal hypertension. It is also associated with cardiovascular (CV) morbidity and mortality indep

  2. The effect of light deprivation in patients with Stargardt disease

    NARCIS (Netherlands)

    Teussink, M.M.; Lee, M.D.; Smith, R.T.; Huet, R.A.C. van; Klaver, C.C.; Klevering, B.J.; Theelen, T.; Hoyng, C.B.

    2015-01-01

    PURPOSE: To investigate whether long-term protection from light exposure affects the rate of disease progression in patients with autosomal recessive Stargardt disease (STGD1), measured using fundus autofluorescence imaging. DESIGN: Longitudinal, retrospective, interventional case series. METHODS: F

  3. Cardiovascular disease and cognitive function in maintenance hemodialysis patients

    Science.gov (United States)

    Cardiovascular disease (CVD) and cognitive impairment are common in dialysis patients. Given the proposed role of microvascular disease on cognitive function, particularly cognitive domains that incorporate executive functions, we hypothesized that prevalent systemic CVD would be associated with wor...

  4. Chagas' disease and ageing: the coexistence of other chronic diseases with Chagas' disease in elderly patients.

    Science.gov (United States)

    Alves, Rosalía Matera de Angelis; Thomaz, Raquel Prado; Almeida, Eros Antônio de; Wanderley, Jamiro da Silva; Guariento, Maria Elena

    2009-01-01

    This study aimed to identify the main comorbidities in elderly chagasic patients treated in a reference service and identify possible associations between the clinical form of Chagas' disease and chronic diseases. Ninety patients aged 60 years-old or over were interviewed and their clinical diagnoses recorded. The study population profile was: women (55.6%); median age (67 years); married (51.1%); retired (73.3%); up to four years' education (64.4%); and earning less than two minimum wages (67.8%). The predominant forms of Chagas' disease were the cardiac (46.7%) and mixed forms (30%). There was a greater proportion of mild cardiac dysfunction (84.1%), frequently in association with megaesophagus. The mean number of concurrent diseases was 2.856 +/- 1.845, and 33% of the patients had four or more comorbidities. The most frequent were systemic arterial hypertension (56.7%), osteoporosis (23.3%), osteoarthritis (21.2%) and dyslipidemia (20%). Positive correlations were verified between sex and comorbidities and between age group and comorbidities.

  5. Nosocomial Infections among Pediatric Patients with Neoplastic Diseases

    OpenAIRE

    Peninnah Oberdorfer; Natthida Pongwilairat; Washington, Charles H

    2009-01-01

    Background. Pediatric patients with neoplastic diseases are more likely to develop nosocomial infections (NIs). NIs may prolong their hospital stay, and increase morbidity and mortality. Objectives. The objectives of this study were to determine: (1) the incidence of NIs, (2) sites of NIs, (3) causal organisms, and (4) outcomes of NIs among pediatric patients with neoplastic diseases. Methods. This study was a prospective cohort study of pediatric patients with neoplastic diseases who were ad...

  6. Outcomes of Bowel Resection in Patients with Crohn's Disease.

    Science.gov (United States)

    Moghadamyeghaneh, Zhobin; Carmichael, Joseph C; Mills, Steven D; Pigazzi, Alessio; Stamos, Michael J

    2015-10-01

    There is limited data regarding outcomes of bowel resection in patients with Crohn's disease. We sought to investigate complications of such patients after bowel resection. The Nationwide Inpatient Sample databases were used to examine the clinical data of Crohn's patients who underwent bowel resection during 2002 to 2012. Multivariate regression analysis was performed to investigate outcomes of such patients. We sampled a total of 443,950 patients admitted with the diagnosis of Crohn's disease. Of these, 20.5 per cent had bowel resection. Among patients who had bowel resection, 51 per cent had small bowel Crohn's disease, 19.4 per cent had large bowel Crohn's disease, and 29.6 per cent had both large and small bowel Crohn's disease. Patients with large bowel disease had higher mortality risk compared with small bowel disease [1.8% vs 1%, adjusted odds ratio (AOR): 2.42, P Crohn's disease (AOR: 1.90, P Crohn's disease, 20.5 per cent underwent bowel resection during 2002 to 2012. Although colonic disease has a higher mortality risk, small bowel disease has a higher risk of postoperative fistula.

  7. Peripartum cardiomyopathy in a patient with Graves' disease.

    Science.gov (United States)

    Kajiya, Takashi; Lee, Souki; Yamashita, Makoto; Sasaki, Yuichi; Kamizono, Yusuke; Imamura, Masakazu; Toyonaga, Koichi; Toda, Hitoshi; Koriyama, Nobuyuki; Tei, Chuwa

    2010-11-05

    Peripartum cardiomyopathy (PPCM) is a rare life-threatening cardiomyopathy of unknown etiology that occurs during the peripartum period in previously healthy women. Autoimmune and viral factors have been suggested to be involved in PPCM. Here we describe a patient with Graves' disease, which is one of the organ-specific autoimmune diseases, who developed acute heart failure due to PPCM at 2 weeks after her first delivery. The patient recovered completely with conservative treatment for heart failure. An association between PPCM and Graves' disease has not been reported before. PPCM may be an organ-specific autoimmune disease, so the coexistence of other autoimmune diseases should be considered in PPCM patients.

  8. Prevalence of coeliac disease in Italian patients affected by Addison's disease.

    Science.gov (United States)

    Biagi, Federico; Campanella, Jonia; Soriani, Alessandra; Vailati, Alberto; Corazza, Gino R

    2006-03-01

    It is well known that coeliac disease is associated with autoimmune endocrine diseases, such as autoimmune thyroid disease and insulin-dependent diabetes mellitus. Recently, coeliac disease has been shown in approximately 10% of patients with autoimmune Addison's disease. Addison's disease is the most common cause of primary adrenocortical insufficiency and it shares several clinical features with coeliac disease. Although hyperpigmentation and hypotension are the most specific signs, gastrointestinal symptoms are common and can be the first complaints of the patients. The aim of our study was to investigate the prevalence of coeliac disease in Italian patients with Addison's disease. Seventeen consecutive patients affected by Addison's disease (14 F, mean age 53.9 years, range 26-79 years) were enrolled in the study. Eleven of them were affected by Addison's disease associated with autoimmune thyroid disease and/or insulin-dependent diabetes mellitus; the other 6 patients were suffering from isolated Addison's disease. Diagnosis had been performed at the age of 40.5 years (range 23-55). Steroid treatment had already been started in 16 of the patients. Endomysial antibodies were tested in all of them and a duodenal biopsy was taken in those found to be positive for antiendomysial antibody (EMA). One out of 17 patients was found to be EMA positive. Duodenal biopsy confirmed the diagnosis of coeliac disease by showing subtotal villous atrophy. Although we studied only a small sample, our preliminary results confirmed that Addison's disease is associated with coeliac disease, being present in 5.9% of patients with Addison's disease. Since the symptoms can be similar and treatment of Addison's disease can mask coeliac disease, this association should always be actively investigated.

  9. Procedural learning changes in patients with Wilson's disease

    Institute of Scientific and Technical Information of China (English)

    Yumei Jiang; Xiang Shen; Xiaoping Wang; Wenjie Li

    2011-01-01

    In the present study, we compared explicit memory performance, using the Wechsler Memory Scale, and implicit memory performance, using the Nissen software version of the serial reaction time task, in patients with Wilson's disease to normal controls. The Wilson's disease patients exhibited deficits in explicit memory tasks, such as figure recall and understanding memory. Moreover, the Wilson's disease patients exhibited deficits in implicit memory tasks, including significantly prolonged response times. These findings indicate that Wilson's disease patients have explicit and implicit partial memory impairments.

  10. Serum YKL-40, a potential new marker of disease activity in patients with inflammatory bowel disease

    DEFF Research Database (Denmark)

    Vind, Ida; Johansen, J S; Price, P A

    2003-01-01

    BACKGROUND: YKL-40 is secreted by macrophages and neutrophils and is a growth factor for vascular endothelial cells and fibroblasts. Elevated serum concentrations of YKL-40 are found in patients with diseases characterized by inflammation or ongoing fibrosis. The aim of this study was to seek...... association between serum YKL-40 in patients with ulcerative colitis (UC) and Crohn disease (CD) and clinical disease activity. METHODS: One-hundred-and-sixty-four patients with UC and 173 patients with CD were studied. The Simple Clinical Colitis Activity Index (SCCAI) and the Harvey-Bradshaw (H-B) score...... were used to assess disease activity. Serum YKL-40 (determined by ELISA) was related to C-reactive protein (CRP) and disease activity. RESULTS: In patients with UC, the median serum YKL-40 rose with increasing disease activity, and patients with severe active disease had higher serum YKL-40 (median 59...

  11. Involvement of patients' perspectives on treatment with noninvasive ventilation in patients with chronic obstructive pulmonary disease

    DEFF Research Database (Denmark)

    Christensen, Helle Marie; Huniche, Lotte; Titlestad, Ingrid L

    2017-01-01

    conduct their everyday lives with chronic obstructive pulmonary disease looking at chronic obstructive pulmonary disease as a basic life condition rather than an illness. This approach had a major impact on chronic obstructive pulmonary disease patients' attitudes to noninvasive ventilation treatment...... a nurse was assigned, was designated for chronic obstructive pulmonary disease patients treated with noninvasive ventilation....

  12. Toward fluorescence detection of protein residues on surgical instruments

    Science.gov (United States)

    Richardson, Patricia R.; Jones, Anita C.; Baxter, Robert L.; Baxter, Helen C.; Whittaker, A. Gavin; Campbell, Gaynor A.

    2004-06-01

    Prion proteins are the infectious agents that cause Creutzfeldt-Jakob Disease (CJD) in humans. These proteins are particularly resistant to normal sterilization procedures, and the theoretical risk of prion transmission via surgical instruments is of current public and professional concern. We are currently investigating fluorescence methods for the detection of proteins on surfaces, with a view to developing an optical-fiber-based system for routine, online monitoring of residual protein contamination on surgical instruments, in hospital sterilization departments. This paper presents preliminary results on the detection of femtomole amounts of fluorescently labelled protein on surgical steel and discusses some of the problems involved in the detection of fluorescence from metal samples.

  13. Etude de l'Encéphalopathie Spongiforme Bovine Expérimentalement Transmise aux Ovins

    OpenAIRE

    2004-01-01

    To characterise in sheep the bovine spongiform encephalopathy agent (BSE) responsible for variant Creutzfeldt-Jakob disease in human beings, three ewes, presenting either a susceptible (2-ARQ/ARQ) or a resistant (1-ARR/ARR) genotype toward scrapie, were infected with a French BSE case. The research of abnormal prion protein (PrPsc) accumulating sites revealed traces of PrPsc in ARR/ARR sheep but did not distinguish BSE agent in ARQ/ARQ sheep from natural scrapie cases. The BSE agent was final...

  14. How might physical activity benefit patients with Parkinson disease?

    NARCIS (Netherlands)

    Speelman, A.D.; Warrenburg, B.P.C. van de; Nimwegen, M.L. van; Petzinger, G.M.; Munneke, M.; Bloem, B.R.

    2011-01-01

    Parkinson disease (PD) is a neurodegenerative disorder characterized by progressive motor and nonmotor impairments. These impairments incline many patients towards a sedentary lifestyle, which has many deleterious consequences. Accumulating evidence suggests that patients with PD might benefit from

  15. pregnancy outcome among patients with sickle cell disease in jos ...

    African Journals Online (AJOL)

    Zamzar

    Conclusion: Pregnancy in sickle cell disease patients is associated with high maternal and perinatal morbidity and ... presentation was 19.3 +/- 7.7 weeks with only ... *Some patients had multiple complications. ... Intrauterine fetal death. 7. 20.0.

  16. Factors associated with gastro-duodenal disease in patients ...

    African Journals Online (AJOL)

    Factors associated with gastro-duodenal disease in patients undergoing ... recruit patients referred with upper gastro-intestinal symptoms for endoscopy. ... 64 had duodenal ulcer, 66 gastric ulcer, 27gastric cancer and 64 non-ulcer dyspepsia.

  17. How might physical activity benefit patients with Parkinson disease?

    NARCIS (Netherlands)

    Speelman, A.D.; Warrenburg, B.P.C. van de; Nimwegen, M.L. van; Petzinger, G.M.; Munneke, M.; Bloem, B.R.

    2011-01-01

    Parkinson disease (PD) is a neurodegenerative disorder characterized by progressive motor and nonmotor impairments. These impairments incline many patients towards a sedentary lifestyle, which has many deleterious consequences. Accumulating evidence suggests that patients with PD might benefit from

  18. Aldosterone assessment in patients with Meniere's disease

    NARCIS (Netherlands)

    Mateijsen, DJM; Kingma, CM; De Jong, PE; Wit, HP; Albers, FWJ

    2001-01-01

    Since 1938 endolymphatic hydrops has generally been accepted as the basic histopathological substrate of Meniere's disease. In animal studies it has been found that exogenous administration of aldosterone resulted in endolymphatic hydrops. Manifestations of Meniere's disease are frequently observed

  19. Elvis is back: musical hallucinations in a Parkinson disease patient.

    Science.gov (United States)

    Mittal, Manoj; Giron, Louis T

    2010-08-01

    Hallucinations are common among patients with Parkinson disease (PD). Hallucinations, typically transitory and occurring at night, are classically visual and occur in 30% of treated patients; auditory hallucinations are rare. A musical hallucination (MH) is a rare type of complex auditory hallucination reported in only six PD patients so far. To the best of our knowledge, we present the first reported case of a patient with Parkinson disease who experienced auditory and visual MH.

  20. Cardiac transplantation for pediatric patients. With inoperable congenital heart disease.

    OpenAIRE

    Shaffer, K M; Denfield, S W; Schowengerdt, K O; Towbin, J A; Radovancević, B; Frazier, O. H.; Price, J K; Gajarski, R J

    1998-01-01

    Recent studies have reported the expanding use of transplantation as the definitive option for pediatric patients with inoperable congenital heart disease. This study compares perioperative risk factors and outcomes in pediatric patients who received heart transplants for congenital heart disease with those in pediatric patients who received heart transplants for cardiomyopathy. Retrospective data collected on 40 consecutive pediatric patients undergoing cardiac transplantation from 1 January...

  1. Moyamoya Disease with Coexistent Hypertriglyceridemia in Pediatric Patient

    Science.gov (United States)

    Sahni, Deepank; Boucher-Berry, Claudia

    2016-01-01

    Moyamoya disease is a rare chronic and progressive cerebrovascular disease of the arteries of the circle of Willis that can affect children and adults. It has been associated with multiple diseases, including immunologic, like Graves' disease, diabetes mellitus, and SLE. Hyperlipidemia has been recognized in patients with Moyamoya disease with an incidence of 27–37%. However, no case in pediatric patients has been reported of the coexistence of Moyamoya disease and hyperlipidemia. Here we present a case of a 9-year-old female diagnosed with Moyamoya disease after a stroke with incidental finding of familial hypercholesterolemia. This finding will make our patient a very unique case, since there has not been any reporting of Moyamoya disease and hypercholesterolemia association. PMID:27843655

  2. Moyamoya Disease with Coexistent Hypertriglyceridemia in Pediatric Patient

    Directory of Open Access Journals (Sweden)

    Jacqueline Chan

    2016-01-01

    Full Text Available Moyamoya disease is a rare chronic and progressive cerebrovascular disease of the arteries of the circle of Willis that can affect children and adults. It has been associated with multiple diseases, including immunologic, like Graves’ disease, diabetes mellitus, and SLE. Hyperlipidemia has been recognized in patients with Moyamoya disease with an incidence of 27–37%. However, no case in pediatric patients has been reported of the coexistence of Moyamoya disease and hyperlipidemia. Here we present a case of a 9-year-old female diagnosed with Moyamoya disease after a stroke with incidental finding of familial hypercholesterolemia. This finding will make our patient a very unique case, since there has not been any reporting of Moyamoya disease and hypercholesterolemia association.

  3. Cardiovascular Dysfunction in Patients with End-stage Liver Disease

    Directory of Open Access Journals (Sweden)

    Merceds Susan Mandell

    2008-07-01

    Full Text Available Most patients with advanced liver disease have a normal or even supernormal ejection fraction judged by echocardiogra-phy. Thus, physicians previously assumed that cardiac function was normal in most patients with liver disease. However, further investigation has uncovered multiple problems in cardiac performance that place patients at risk of heart failure. Patients with liver disease have defects in both systolic and diastolic function that only become obvious with physiologic stress such as liver transplantation. In addition there are additional defects in the electromechanical coupling of the heart that can have significant clinical consequences. These collective pathologic changes are termed “cirrhotic cardiomyopathy” and occur to some degree in all patients with liver disease. This review will explore the pathophysiology of cardiovascular changes in patients with end-stage liver disease.

  4. Cardiac disease after radiation therapy for Hodgkin's disease: analysis of 48 patients

    Energy Technology Data Exchange (ETDEWEB)

    Applefeld, M.M.; Wiernik, P.H.

    1983-06-01

    Occult or overt but delayed cardiac disease after thoracic radiotherapy for Hodgkin's disease may be common. Detailed cardiac evaluations were performed in 48 patients with Hodgkin's disease at risk a mean of 97 months after radiotherapy. The study protocol included echocardiography, gated radionuclide ventriculography, and cardiac catheterization. Cardiac disease was found in 46 patients (96%) and included constrictive or occult constrictive pericarditis (24 patients), an abnormal hemodynamic response to a fluid challenge (14 patients), coronary artery disease (6 patients), and left ventricular dysfunction (2 patients). Most patients (53%) had normal echocardiograms. Gated blood pool radionuclide angiocardiography was performed in 42 patients. Excluding patients with occlusive coronary artery disease, the left ventricular ejection fraction at rest (mean 59%) and during exercise (mean 69%) was within normal limits. Thus (1) delayed cardiac disease after radiotherapy is common, (2) chronic pericardial disorders are the most frequent manifestations of this disease, and (3) the prognosis for patients who have radiation-induced cardiac disease is generally favorable.

  5. Hepatic lipogranulomas in patients with chronic liver disease: Association with hepatitis C and fatty liver disease

    Institute of Scientific and Technical Information of China (English)

    Henry; C; Bodenheimer; David; J; Clain; Albert; D; Min; Neil; D; Theise

    2010-01-01

    AIM: To study the significance and clinical implication of hepatic lipogranuloma in chronic liver diseases, including fatty liver disease and hepatitis C. METHODS: A total of 376 sequential, archival liver biopsy specimens were reviewed. Lipogranuloma, steatosis and steato-fibrosis were evaluated with combined hematoxylin and eosin and Masson’s trichrome staining. RESULTS: Fifty-eight (15.4%) patients had lipogranuloma, including 46 patients with hepatitis C, 14 patients with fatty liver disease, and 5 pati...

  6. Self management for patients with chronic obstructive pulmonary disease

    NARCIS (Netherlands)

    Zwerink, M.; Brusse-Keizer, M.; Valk, P.D.L.P.M. van der; Zielhuis, G.A.; Monninkhof, E.M.; Palen, J.A.M. van der; Frith, P.A.; Effing, T.

    2014-01-01

    BACKGROUND: Self management interventions help patients with chronic obstructive pulmonary disease (COPD) acquire and practise the skills they need to carry out disease-specific medical regimens, guide changes in health behaviour and provide emotional support to enable patients to control their

  7. The medical, social, and functional profile of Parkinson's disease patients.

    Science.gov (United States)

    Lee, K S; Merriman, A; Owen, A; Chew, B; Tan, T C

    1994-06-01

    The study looked at the medical, social, and functional aspects of 34 patients with idiopathic Parkinson's Disease (PD). Eighty-five percent were above 55 years and 35% were over 70 years. Twenty-four (71%) were males. Most patients had Stage II disease. Overall functional state of the patient correlated closely with the stage of Parkinson's disease. Patients were likely to be dependent if their disease severity was stage III or more. Eighteen (53%) patients would require a carer to be present at least part of the day and 3 (9%) patients would require a carer most of the time. Domestic chores such as meal preparation, housework, and shopping were also affected in most of those who were previously active in these tasks. Ten patients had given up work due to their Parkinson's disease. The lack of knowledge of the disease was shown both in the carers and the patients. Twenty-nine of the patients had no knowledge of the disease, and only one carer had superficial knowledge of the disease. The major social problems associated with the disease were loss of social contact, behavioural problems, family members under strain and communication problems within the family. Since Parkinson's Disease is a chronic illness, with associated disabilities, it is important that the physician should aim for a multidisciplinary approach. Patient and carer education should be given emphasis, and the many everyday functional problems addressed. Advice on life-style management and aids to overcome disabilities may help improve quality of life of the patient and reduce carer's stress.

  8. Cardiovascular disease in patients with osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Folkestad, Lars; Hald, Jannie Dahl; Gram, Jeppe

    2016-01-01

    BACKGROUND: Osteogenesis imperfecta (OI) is a hereditary connective tissue disease often due to mutations in genes coding for type 1 collagen. Collagen type 1 is important in the development of the heart and vasculature. Little is known about the risk of cardiovascular disease (CVD) in OI...... to development of these diseases. Our results suggest that the collagenopathy seen in OI may be part of the pathogenesis of CVD in OI....

  9. Periodontal disease in diabetic patients - clinical and histopathological aspects.

    Science.gov (United States)

    Corlan Puşcu, Dorina; Ciuluvică, Radu Constantin; Anghel, Andreea; Mălăescu, Gheorghe Dan; Ciursaş, Adina Nicoleta; Popa, Gabriel Valeriu; Agop Forna, Doriana; Busuioc, Cristina Jana; Siloşi, Izabela

    2016-01-01

    Periodontal disease is one of the most frequent diseases affecting people all over the world. The relation between periodontal disease and diabetes mellitus raised the interest both of dentists and doctors treating metabolic diseases, as the two conditions influence one another. In our study, we analyzed a number of 75 patients with diabetes mellitus and periodontal disease that presented to the medical consultory for conditions of the dental maxillary system. The clinical study showed that periodontal disease and diabetes may affect young adults as well, still this pathological association more frequently appears after the age of 50. The disease was identified especially in the women living in urban area. The clinical examination of the dental maxillary system identified the presence of gingival ulcerations, dental calculus, gingival bleeding, radicular leftovers with anfractuous margins, fixed prostheses with an inappropriate cervical adjustment. Of the systemic diseases associated to periodontal disease and diabetes mellitus, there was observed that 66.66% of the patients also suffered from cardiovascular diseases (high blood pressure, ischemic cardiopathy, heart failure), and 37.33% suffered from obesity. The histopathological and immunohistochemical tests highlighted the presence of an inflammatory chronic, intense reaction, mainly formed of lymphocytes, plasmocytes, macrophages and granulocytes, heterogeneously disseminated and alteration of the structure of marginal and superficial periodontium. The inflammatory reaction in the patients with periodontal disease and diabetes was more intense than in the patients with periodontal disease without diabetes.

  10. Hypertensive organ damage in patients with vascular disease

    NARCIS (Netherlands)

    Vlek, A.L.M.

    2009-01-01

    Hypertension is one of the most common vascular risk factors, and is an important cause of development of different vascular diseases. The main aim of this thesis was to determine the burden of hypertension-associated vascular diseases and end-organ damage in patients with manifest vascular disease.

  11. Screening, diagnosis, and management of patients with Fabry disease

    DEFF Research Database (Denmark)

    Schiffmann, Raphael; Hughes, Derralynn A; Linthorst, Gabor E

    2017-01-01

    Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed controversial areas in the diagnosis, screening, a...

  12. Advanced glycation end products in patients with peripheral artery disease

    NARCIS (Netherlands)

    de Vos, Lisanne Carlijn

    2016-01-01

    Peripheral artery disease (PAD) is a disease in which stenosis or occlusion occurs of the arteries of the lower limbs. The most common underlying disease is atherosclerosis. The main presenting symptom of these patients is intermittent claudication, which is typical leg pain during walking that disa

  13. Incidence of RET mutations in patients with Hirschsprung's disease

    NARCIS (Netherlands)

    Sancandi, M; Ceccherini, [No Value; Costa, M; Fava, M; Chen, B; Wu, Y; Hofstra, R; Laurie, T; Griffths, M; Burge, D; Tam, PKH

    2000-01-01

    Background: RET mutations have been reported variously to affect 7% to 41% of Hirschsprung's disease (HSCR) patients depending on familial or sporadic occurrence of the disease, length of aganglionosis and possible association with other disease phenotypes. The authors report a study of the incidenc

  14. Hypertensive organ damage in patients with vascular disease

    NARCIS (Netherlands)

    Vlek, A.L.M.

    2009-01-01

    Hypertension is one of the most common vascular risk factors, and is an important cause of development of different vascular diseases. The main aim of this thesis was to determine the burden of hypertension-associated vascular diseases and end-organ damage in patients with manifest vascular disease.

  15. Prevalence and overlap of Disease Management Program diseases in older hospitalized patients

    DEFF Research Database (Denmark)

    Juul-Larsen, Helle Gybel; Petersen, Janne; Sivertsen, Ditte Maria

    2017-01-01

    Many countries, like Denmark, have tailored Disease Management Programs (DMPs) based on patients having single chronic diseases [defined institutionally as "program diseases" (PDs)], which can complicate treatment for those with multiple chronic diseases. The aims of this study were (a) to assess....... The range of the cumulative incidence of being readmitted within 90 days was between 28.8% for patients without a PD and 46.6% for patients with more than one PD. PDs overlapped in many combinations, and all patients had a high probability of being readmitted. Hence, developing strategies to create a new...

  16. Hormones and arterial stiffness in patients with chronic kidney disease.

    Science.gov (United States)

    Gungor, Ozkan; Kircelli, Fatih; Voroneanu, Luminita; Covic, Adrian; Ok, Ercan

    2013-01-01

    Cardiovascular disease constitutes the major cause of mortality in patients with chronic kidney disease. Arterial stiffness is an important contributor to the occurrence and progression of cardiovascular disease. Various risk factors, including altered hormone levels, have been suggested to be associated with arterial stiffness. Based on the background that chronic kidney disease predisposes individuals to a wide range of hormonal changes, we herein review the available data on the association between arterial stiffness and hormones in patients with chronic kidney disease and summarize the data for the general population.

  17. Factors contributing to malnutrition in patients with Parkinson's disease.

    Science.gov (United States)

    Kim, Sung R; Chung, Sun J; Yoo, Sung-Hee

    2016-04-01

    Our objective in this study was to evaluate the nutritional status and to identify clinical, psychosocial, and nutritional factors contributing to malnutrition in Korean patients with Parkinson's disease. We used a descriptive, cross-sectional study design. Of 102 enrolled patients, 26 (25.5%) were malnourished and 27 (26.5%) were at risk of malnutrition based on Mini-Nutritional Assessment scores. Malnutrition was related to activity of daily living score, Hoehn and Yahr stage, duration of levodopa therapy, Beck Depression Inventory and Spielberger's Anxiety Inventory scores, body weight, body weight at onset of Parkinson's disease, and body mass index. On multiple logistic regression analysis, anxiety score, duration of levodopa therapy, body weight at onset of Parkinson's disease, and loss of body weight were significant factors predicting malnutrition in Parkinson's disease patients. Therefore, nutritional assessment, including psychological evaluation, is required for Parkinson's disease patients to facilitate interdisciplinary nutritional intervention for malnourished patients.

  18. Hemorheological Alteration in Patients Clinically Diagnosed with Chronic Liver Diseases.

    Science.gov (United States)

    Jang, Bohyun; Han, Ji Won; Sung, Pil Soo; Jang, Jeong Won; Bae, Si Hyun; Choi, Jong Young; Cho, Young I; Yoon, Seung Kew

    2016-12-01

    Since liver function is changed by chronic liver diseases, chronic liver disease can lead to different hemorheological alterations during the course of the progression. This study aims to compare alterations in whole blood viscosity in patients with chronic liver disease, focusing on the gender effect. Chronic liver diseases were classified into three categories by patient's history, serologic markers, and radiologic findings: nonalcoholic fatty liver disease (NAFLD) (n = 63), chronic viral hepatitis B and C (n = 50), and liver cirrhosis (LC) (n = 35). Whole blood viscosity was measured by automated scanning capillary tube viscometer, while liver stiffness was measured by transient elastography using FibroScan®. Both systolic and diastolic whole blood viscosities were significantly lower in patients with LC than NAFLD and chronic viral hepatitis (P chronic viral hepatitis. Our data suggest that whole blood viscosity test can become a useful tool for classifying chronic liver disease and determining the prognosis for different types of chronic liver diseases.

  19. [Comorbid autoimmune pathology in patients treated with disease modifying drugs].

    Science.gov (United States)

    Goncharova, Z A; Sizyakina, L P; Belovolova, R A; Megeryan, V A

    2016-01-01

    Because of intensive growth of the prevalence of multiple sclerosis (MS) and other autoimmune diseases (AID) during the last years, the comorbidity of MS and AID is not a rarity. In this literature review, the development of comorbid AID in patients with MS is considered to be the probable complication of disease modifying therapy with drugs of different groups. The authors present the own data on the prevalence of comorbid autoimmune pathology in patients with MS treated with disease modifying drugs.

  20. Non-surgical periodontal management in scleroderma disease patients.

    Science.gov (United States)

    Laforgia, A; Corsalini, M; Stefanachi, G; Tafuri, S; Ballini, A; Pettini, F; Di Venere, D

    2016-01-01

    The aim of the present study is to investigate the periodontal status of people with scleroderma and their response to non-surgical treatment protocol aimed at controlling the evolution of the disease. The response to non-surgical periodontal treatment was tested on patients belonging to a scleroderma group and a control group: the data show an improvement of the periodontal conditions of all these patients in response to treatment. When compared on the same diagram, a slight remission of the periodontal disease was obtained in both scleroderma and healthy patients. This highlights the benefit to soft tissues produced by non-surgical periodontal treatment also in patients affected by systemic diseases.

  1. Epiretinal membrane removal in patients with Stargardt disease

    Directory of Open Access Journals (Sweden)

    Muna Bhende

    2015-01-01

    Full Text Available Epiretinal membranes (ERMs in Stargardt disease have been known to undergo spontaneous separation in children. Results of surgical intervention in adult patients with Stargardt disease have rarely been reported. A retrospective review of results of surgical intervention for ERM causing visual impairment in two adult patients of Stargardt disease was carried out. Both patients developed ERM in one eye during their follow-up period with the resultant drop in their preexisting visual acuity. Postsurgery, restoration of foveal contour with some improvement in visual acuity was observed in both patients. No adverse effect of surgery was noted.

  2. Motility Evaluation in the Patient with Inflammatory Bowel Disease.

    Science.gov (United States)

    Abdalla, Sherine M; Kalra, Gorav; Moshiree, Baha

    2016-10-01

    Patients with inflammatory bowel disease (IBD) suffer frequently from functional bowel diseases (FBD) and motility disorders. Management of FBD and motility disorders in IBD combined with continued treatment of a patient's IBD symptoms will likely lead to better clinical outcomes and improve the patient's quality of life. The goals of this review were to summarize the most recent literature on motility disturbances in patients with IBD and to give a brief overview of the ranges of motility disturbances, from reflux disease to anorectal disorders, and discuss their diagnosis and specific management.

  3. Vascular Disease in Patients with Nonalcoholic Fatty Liver Disease

    NARCIS (Netherlands)

    Potze, Wilma; Siddiqui, M. Shadab; Sanyal, Arun J.

    2015-01-01

    Nonalcoholic fatty liver disease (NAFLD) is increasingly being diagnosed and is considered to be the most frequent chronic liver disorder in Western countries. It represents a histopathological spectrum ranging from simple hepatic steatosis to steatohepatitis and finally cirrhosis. NAFLD is consider

  4. Computational Studies of the Structural Stability of Rabbit Prion Protein Compared to Human and Mouse Prion Proteins

    CERN Document Server

    Zhang, Jiapu

    2011-01-01

    Prion diseases are invariably fatal and highly infectious neurodegenerative diseases affecting humans and animals. The neurodegenerative diseases such as Creutzfeldt-Jakob disease, variant Creutzfeldt-Jakob diseases, Gerstmann-Str$\\ddot{a}$ussler-Scheinker syndrome, Fatal Familial Insomnia, Kuru in humans, scrapie in sheep, bovine spongiform encephalopathy (or 'mad-cow' disease) and chronic wasting disease in cattle belong to prion diseases. By now there have not been some effective therapeutic approaches to treat all these prion diseases. Dogs, rabbits and horses were reported to be resistant to prion diseases. By the end of year 2010 all the NMR structures of dog, rabbit and horse prion proteins (X-ray for rabbits too) had been finished to release into protein data bank. Thus, at this moment it is very worth studying the NMR and X-ray molecular structures of horse, dog and rabbit prion proteins to obtain insights into their immunity prion diseases. The author found that dog and horse prion proteins have sta...

  5. Facilitators and Threats to the Patient Dignity in Hospitalized Patients with Heart Diseases: A Qualitative Study

    OpenAIRE

    Fariba Borhani; Abbas Abbaszadeh; Roghayeh Mehdipour Rabori

    2016-01-01

    Background: Patient’s dignity is an important issue which is highlighted in nursing It is an issue that is highly dependent on context and culture. Heart disease is the most common disease in Iran and the world. Identification of facilitator and threatening patient dignity in heart patients is vital. This study aimed to explore facilitator and threatening patient dignity in hospitalized patients with heart disease. Methods: This qualitative content analysis study was performed in 2014 in ...

  6. Osteoporosis in chronic obstructive pulmonary disease patients

    DEFF Research Database (Denmark)

    Jørgensen, Niklas Rye; Schwarz, Peter

    2008-01-01

    The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence.......The purpose of this review is to examine the state of knowledge and clinical practice in the association of chronic obstructive pulmonary disease to osteoporosis and fracture incidence....

  7. Revascularization options in patients with chronic kidney disease.

    Science.gov (United States)

    Ashrith, Guha; Elayda, MacArthur A; Wilson, James M

    2010-01-01

    Cardiovascular disease is the leading cause of death in patients who have chronic kidney disease or end-stage renal disease and are undergoing hemodialysis. Chronic kidney disease is a recognized risk factor for premature atherosclerosis. Unfortunately, most major randomized clinical trials that form the basis for evidence-based use of revascularization procedures exclude patients who have renal insufficiency. Retrospective, observational studies suggest that patients with end-stage renal disease and severe coronary occlusive disease have a lower risk of death if they undergo coronary revascularization rather than medical therapy alone. Due to a lack of prospective studies, however, the relative merits of percutaneous versus surgical revascularization are merely a matter of opinion. Several small, retrospective studies have shown that coronary artery bypass grafting is associated with higher procedural death but better long-term survival than is percutaneous coronary intervention. This difference appears to result from poor long-term results of percutaneous coronary intervention in patients who have chronic kidney disease or end-stage renal disease.Because randomized trials comparing percutaneous coronary intervention and coronary artery bypass grafting have included patients undergoing balloon angioplasty and placement of bare-metal stents, their conclusions are suspect in the era of drug-eluting stents. In this review, we discuss different revascularization options for patients with chronic kidney disease, the outcomes of revascularization procedures, and the risk factors for adverse outcomes.

  8. Neoplastic Disorders in 100 Patients with Adult Celiac Disease

    Directory of Open Access Journals (Sweden)

    HUGH J Freeman

    1996-01-01

    Full Text Available Previous reports have suggested that the incidence of some neoplastic disorders, particularly malignant lymphoma, is increased in patients with celiac disease. In this study, the type and number of neoplastic disorders detected in 100 consecutive celiac disease patients were explored. Sixty-five patients were initially diagnosed with celiac disease before, and 35 after, age 60 years. Ten elderly celiac patients had lymphoma or small intestinal adenocarcinoma. Although the overall incidence of malignant lymphoma was 8%, similar to that in other centres, the incidence in elderly celiac patients was 23% in this study. Celiac disease was detected before or after the diagnosis of lymphoma or small intestinal adenocarcinoma. In some patients, epithelial lymphocytosis was evident in the gastric, colonic or biliary tract epithelium. In addition, other immune-mediated disorders, dermatitis herpetiformis and autoimmune thyroiditis, were common. Finally, other malignant disorders of the esophagus, stomach and colon were not detected.

  9. Prevalence of cholelithiasis in patients with chronic inflammatory bowel disease

    Institute of Scientific and Technical Information of China (English)

    Wolfgang Kratzer; Mark M Haenle; Richard A Mason; Christian von Tirpitz; Volker Kaechele

    2005-01-01

    AIM: To investigate the effect of chronic inflammatory bowel disease (CIBD) specific risk factors for cholecystolithiasis,as duration and involvement pattern of the disease and prior surgery in patients with Crohn's disease (CD) and ulcerative colitis (UC).METHODS: A total of 222 patients with CD (135 females,87 males; average age, 35.8±11.8 years; range 17-81 years)and 88 patients with UC (39 females, 49 males; average age, 37.2±13.6 years; range 16-81 years) underwent clinical and ultrasound examinations. Besides age, sex and degree of obesity, patients' CIBD specific parameters, including duration and extent of disease and prior operations were documented and evaluated statistically using logistic regression.RESULTS: The overall prevalence of gallbladder stone disease in patients with CD was 13% (n = 30). Only age could be shown to be an independent risk factor (P = 0.014).Compared to a collective representative for the general population in the same geographic region, the prevalence of cholecystolithiasis was higher in all corresponding age groups. Patients with UC showed an overall prevalence of gallbladder stone disease of only 4.6%.CONCLUSION:Only age but not disease-specific factors such as duration and extent of disease, and prior surgery are independent risk factors for the development of cholecystolithiasis in patients with CIBD.

  10. Frequency of craniofacial pain in patients with ischemic heart disease

    OpenAIRE

    Bakhshi, Mahin; Rezaei, Rezvan; Baharvand, Maryam; Bakhtiari, Sedigheh

    2017-01-01

    Background Referred craniofacial pain of cardiac origin might be the only symptom of ischemic heart accidents. This study aimed to determine the frequency of craniofacial pain in patients with ischemic heart disease. Material and Methods This cross-sectional study was accomplished on 296 patients who met the criteria of having ischemic heart disease. Data regarding demographics, medical history and referred craniofacial pain were recorded in data forms. In addition, patients underwent oral ex...

  11. [The physician-patient relationship in chronic disease management].

    Science.gov (United States)

    Ginies, P

    2008-07-01

    The relationship between patients and clinicians is a key element in the management of chronic diseases. With the objective of a more efficient communication, the clinician should know his own personality but also the patient personality. The organisation of the consultation, of the waiting room and of the secretary has to facilitate this relationship. The amelioration of this relationship is usefulness only for the clinician in particularly complicated cases but also for the patients suffering from chronic diseases.

  12. Study of pulp microflora in patients with cardiovascular diseases

    Directory of Open Access Journals (Sweden)

    M.A. Safarov

    2010-06-01

    Full Text Available 335 patients aged 20 to 60 years with various parodontitis inflammatory diseases have been selected for research. All patients have been divided into four groups of different age: with rheumatism - 96 persons, with heart ischemic illness - 82 persons, with arterial hypertension - 89 persons, with neurocirculatory dystonia - 68 persons. The presented results of supervision show diagnostic significant changes of pulp microflora with odontogenic infection in patients, suffering cardiovascular diseases

  13. Linking SNPs to CAG repeat length in Huntington's disease patients.

    Science.gov (United States)

    Liu, Wanzhao; Kennington, Lori A; Rosas, H Diana; Hersch, Steven; Cha, Jang-Ho; Zamore, Phillip D; Aronin, Neil

    2008-11-01

    Allele-specific silencing using small interfering RNAs targeting heterozygous single-nucleotide polymorphisms (SNPs) is a promising therapy for human trinucleotide repeat diseases such as Huntington's disease. Linking SNP identities to the two HTT alleles, normal and disease-causing, is a prerequisite for allele-specific RNA interference. Here we describe a method, SNP linkage by circularization (SLiC), to identify linkage between CAG repeat length and nucleotide identity of heterozygous SNPs using Huntington's disease patient peripheral blood samples.

  14. Precision medicine in patients with allergic diseases

    DEFF Research Database (Denmark)

    Muraro, Antonella; Lemanske, Robert F; Hellings, Peter W

    2016-01-01

    , and design of disease-modifying strategies. Progress has been made in profiling the type 2 immune response-driven asthma. The endotype driven approach for non-type 2 immune response asthma, rhinitis, and atopic dermatitis is lagging behind. Validation and qualification of biomarkers are needed to facilitate...... their translation into pathway-specific diagnostic tests. Wide consensus between academia, governmental regulators, and industry for further development and application of precision medicine in management of allergic diseases is of utmost importance. Improved knowledge of disease pathogenesis together with defining...

  15. Approach to the patient with Parkinson disease.

    Science.gov (United States)

    Johnson, Kevin E

    2015-06-01

    Parkinson disease (PD) is a progressive neurodegenerative disease with motor, nonmotor, and behavioral findings. Imaging technology advances have allowed the characterization of the underlying pathologic changes to the brain and identification of specific lesions in dopaminergic neurons. Although certain imaging techniques allow for detection up to 20 years before the onset of motor symptoms, these advances have yet to produce meaningful treatments to halt the disease or reverse its course. Current treatments are directed at optimizing symptomatic management. Referral to a movement disorder specialist familiar with PD should be considered for providers with limited familiarity in diagnosis or treatment.

  16. Alzheimer's disease care management plan: maximizing patient care.

    Science.gov (United States)

    Treinkman, Anna

    2005-03-01

    Nurse practitioners have the potential to significantly impact the care of patients with dementia. Healthcare providers can now offer patients medications that will control symptoms and prolong functioning. As a result of ongoing contact with patients, NPs play an important role in assessing and screening patients for AD and educating the patients, families, and caregivers about the disease. Alzheimer's disease is a chronic, progressive illness that requires long-term management. Nurse practitioners should be familiar with available medications and appreciate the need to individualize therapy to maximize efficacy and minimize potential adverse drug reactions.

  17. Treatment options for patients with Gaucher disease

    African Journals Online (AJOL)

    Rabah M. Shawky

    2016-02-28

    Feb 28, 2016 ... treatment – was approved for Gaucher disease. ... pharmacological chaperon and possibly gene therapy. The aim of .... physical and psychological development However, it comes .... pathologic fractures or osteonecrosis [51].

  18. Predictive factors of small bowel patency in Crohn's disease patients

    Directory of Open Access Journals (Sweden)

    Andreia Albuquerque

    2016-02-01

    Full Text Available Background: Patency capsule was developed to avoid small bowel video capsule endoscopy retention, namely in patients with Crohn's disease. Aims: To evaluate the predictive factors of small bowel patency in Crohn's disease patients. Patients and methods: Retrospective analysis including 151 Crohn's disease patients submitted to patency capsule (Agile® Patency Capsule from 2011 to 2012. Patients that excreted the intact patency capsule were classified as having a patent small bowel (without patency capsule retention, other patients were considered to have negative patency of the small bowel (patency capsule retention. Results: Patients had a mean age of 41±14 years, 54% were female and 25% had been previously submitted to surgery. Stricturing disease was seen in 20% of cases and penetrating disease in 16% of cases. Left-sided colonic lesions and ileal strictures were observed at colonoscopy in 13% and 9% of patients, respectively. In our sample, 28% of patients had negative patency of the small bowel (patency capsule retention. In multivariate analysis, independent factors that were associated with negative patency of the small bowel in Crohn's disease patients were stricturing (OR 10.16, p < 0.001 and penetrating phenotypes (OR 11.73, p = 0.001, left-sided colonic lesions (OR 3.77, p = 0.038, ileal stricture (OR 9.76, p = 0.003; previous intestinal surgery was found to be protective (OR 0.16, p = 0.006. Conclusions: Stricturing or penetrating disease, ileal strictures, no previous surgery and left-sided colonic lesions were the factors associated with negative small bowel patency in Crohn's disease patients.

  19. Risk of primary biliary cirrhosis in patients with coeliac disease

    DEFF Research Database (Denmark)

    Sørensen, Henrik Toft; Thulstrup, Ane Marie; Blomqvist, P

    1999-01-01

    BACKGROUND: Several case reports, but only a few studies, have examined the coexistence of coeliac disease and primary biliary cirrhosis. AIM: To estimate the risk of primary biliary cirrhosis in two national cohorts of patients with coeliac disease in Denmark and Sweden. METHODS: Through record...... linkage all Danish patients hospitalised with coeliac disease were followed for possible occurrence of primary biliary cirrhosis from 1 January 1977 until 31 December 1992. All patients hospitalised with coeliac disease in Sweden from 1987 to 1996 were also followed in a separate analysis. RESULTS......: A total of 896 patients with coeliac disease were identified in Denmark with a median follow up period of 9.1 years for a total of 8040 person-years at risk. Two cases of primary biliary cirrhosis were observed where 0.07 were expected, giving a standardised incidence ratio of 27.6 (95% confidence...

  20. Survival Analysis of Patients with End Stage Renal Disease

    Science.gov (United States)

    Urrutia, J. D.; Gayo, W. S.; Bautista, L. A.; Baccay, E. B.

    2015-06-01

    This paper provides a survival analysis of End Stage Renal Disease (ESRD) under Kaplan-Meier Estimates and Weibull Distribution. The data were obtained from the records of V. L. MakabaliMemorial Hospital with respect to time t (patient's age), covariates such as developed secondary disease (Pulmonary Congestion and Cardiovascular Disease), gender, and the event of interest: the death of ESRD patients. Survival and hazard rates were estimated using NCSS for Weibull Distribution and SPSS for Kaplan-Meier Estimates. These lead to the same conclusion that hazard rate increases and survival rate decreases of ESRD patient diagnosed with Pulmonary Congestion, Cardiovascular Disease and both diseases with respect to time. It also shows that female patients have a greater risk of death compared to males. The probability risk was given the equation R = 1 — e-H(t) where e-H(t) is the survival function, H(t) the cumulative hazard function which was created using Cox-Regression.