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[PMID]: 28449707
[Au] Autor:Llorens F; Thüne K; Sikorska B; Schmitz M; Tahir W; Fernández-Borges N; Cramm M; Gotzmann N; Carmona M; Streichenberger N; Michel U; Zafar S; Schuetz AL; Rajput A; Andréoletti O; Bonn S; Fischer A; Liberski PP; Torres JM; Ferrer I; Zerr I
[Ad] Address:Department of Neurology, University Medical Center Göttingen, and German Center for Neurodegenerative Diseases (DZNE), Robert Koch Strasse 40, 37075, Göttingen, Germany. franc.llorens@gmail.com.
[Ti] Title:Altered Ca homeostasis induces Calpain-Cathepsin axis activation in sporadic Creutzfeldt-Jakob disease.
[So] Source:Acta Neuropathol Commun;5(1):35, 2017 04 27.
[Is] ISSN:2051-5960
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Sporadic Creutzfeldt-Jakob disease (sCJD) is the most prevalent form of human prion disease and it is characterized by the presence of neuronal loss, spongiform degeneration, chronic inflammation and the accumulation of misfolded and pathogenic prion protein (PrP ). The molecular mechanisms underlying these alterations are largely unknown, but the presence of intracellular neuronal calcium (Ca ) overload, a general feature in models of prion diseases, is suggested to play a key role in prion pathogenesis.Here we describe the presence of massive regulation of Ca responsive genes in sCJD brain tissue, accompanied by two Ca -dependent processes: endoplasmic reticulum stress and the activation of the cysteine proteases Calpains 1/2. Pathogenic Calpain proteins activation in sCJD is linked to the cleavage of their cellular substrates, impaired autophagy and lysosomal damage, which is partially reversed by Calpain inhibition in a cellular prion model. Additionally, Calpain 1 treatment enhances seeding activity of PrP in a prion conversion assay. Neuronal lysosomal impairment caused by Calpain over activation leads to the release of the lysosomal protease Cathepsin S that in sCJD mainly localises in axons, although massive Cathepsin S overexpression is detected in microglial cells. Alterations in Ca homeostasis and activation of Calpain-Cathepsin axis already occur at pre-clinical stages of the disease as detected in a humanized sCJD mouse model.Altogether our work indicates that unbalanced Calpain-Cathepsin activation is a relevant contributor to the pathogenesis of sCJD at multiple molecular levels and a potential target for therapeutic intervention.
[Mh] MeSH terms primary: Brain/metabolism
Calcium/metabolism
Calpain/metabolism
Cathepsins/metabolism
Creutzfeldt-Jakob Syndrome/metabolism
Homeostasis/physiology
[Mh] MeSH terms secundary: Animals
Brain/pathology
Cations, Divalent/metabolism
Cells, Cultured
Creutzfeldt-Jakob Syndrome/pathology
Disease Models, Animal
Humans
Lysosomes/metabolism
Lysosomes/pathology
Mesocricetus
Mice, Transgenic
Neurons/metabolism
Neurons/pathology
PrPSc Proteins/metabolism
Rats, Wistar
Recombinant Proteins/metabolism
Sheep
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Cations, Divalent); 0 (PrPSc Proteins); 0 (Recombinant Proteins); EC 3.4.- (Cathepsins); EC 3.4.22.- (Calpain); SY7Q814VUP (Calcium)
[Em] Entry month:1712
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1186/s40478-017-0431-y

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[PMID]: 29432500
[Au] Autor:Danek M; Danek J; Araszkiewicz A
[Ad] Address:I Klinika Psychiatrii w Bydgoszczy, Collegium Medicum w Bydgoszczy, Uniwersytet Mikolaja Kopernika w Toruniu.
[Ti] Title:Duze zwierzeta jako potencjalne modele zaburzen psychicznych i zachowania czlowieka. Large animals as potential models of human mental and behavioral disorders.
[So] Source:Psychiatr Pol;51(6):1009-1027, 2017 Dec 30.
[Is] ISSN:2391-5854
[Cp] Country of publication:Poland
[La] Language:eng; pol
[Ab] Abstract:Many animal models in different species have been developed for mental and behavioral disorders. This review presents large animals (dog, ovine, swine, horse) as potential models of this disorders. The article was based on the researches that were published in the peer-reviewed journals. Aliterature research was carried out using the PubMed database. The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Diseases and Related Health Problems 10thRevision (ICD-10), in particular regarding: organic, including symptomatic, disorders; mental disorders (Alzheimer's disease and Huntington's disease, pernicious anemia and hepatic encephalopathy, epilepsy, Parkinson's disease, Creutzfeldt-Jakob disease); behavioral disorders due to psychoactive substance use (alcoholic intoxication, abuse of morphine); schizophrenia and other schizotypal disorders (puerperal psychosis); mood (affective) disorders (depressive episode); neurotic, stress-related and somatoform disorders (posttraumatic stress disorder, obsessive-compulsive disorder); behavioral syndromes associated with physiological disturbances and physical factors (anxiety disorders, anorexia nervosa, narcolepsy); mental retardation (Cohen syndrome, Down syndrome, Hunter syndrome); behavioral and emotional disorders (attention deficit hyperactivity disorder). This data indicates many large animal disorders which can be models to examine the above human mental and behavioral disorders.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Process

  3 / 6477 MEDLINE  
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[PMID]: 29380664
[Au] Autor:Bielewicz J; Szczepanska-Szerej A; Ogórek M; Dropko P; Wojtal K; Rejdak K
[Ad] Address:a Department of Neurology , Medical University of Lublin , Lublin , Poland.
[Ti] Title:Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease.
[So] Source:Prion;:1-4, 2018 Feb 09.
[Is] ISSN:1933-690X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs. The patient was finally diagnosed with sCJD disease. The most useful ancillary examination results supporting sCJD diagnosis were brain diffusion DWI MRI (diffusion weighted magnetic resonance imaging) and the presence of 14-3-3 protein in CSF (cerebrospinal fluid). Since that manifestation of sCJD is very unique other causes should be taken into consideration while making a final diagnosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:Publisher
[do] DOI:10.1080/19336896.2018.1433988

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[PMID]: 29365304
[Au] Autor:Narula R; Tinaz S
[Ad] Address:Yale New Haven Hospital, New Haven, CT reshma.narula@yale.edu.
[Ti] Title:Creutzfeldt-Jakob Disease.
[So] Source:N Engl J Med;378(4):e7, 2018 Jan 25.
[Is] ISSN:1533-4406
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Brain/diagnostic imaging
Creutzfeldt-Jakob Syndrome/diagnosis
[Mh] MeSH terms secundary: 14-3-3 Proteins/cerebrospinal fluid
Brain/pathology
Cognition Disorders/etiology
Creutzfeldt-Jakob Syndrome/complications
Creutzfeldt-Jakob Syndrome/diagnostic imaging
Electroencephalography
Fatal Outcome
Humans
Magnetic Resonance Imaging
Male
Middle Aged
tau Proteins/cerebrospinal fluid
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (14-3-3 Proteins); 0 (tau Proteins)
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180125
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMicm1710121

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[PMID]: 29368621
[Au] Autor:Abu-Rumeileh S; Capellari S; Stanzani-Maserati M; Polischi B; Martinelli P; Caroppo P; Ladogana A; Parchi P
[Ad] Address:Department of Biomedical and NeuroMotor Sciences, University of Bologna, 40123, Bologna, Italy.
[Ti] Title:The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias.
[So] Source:Alzheimers Res Ther;10(1):3, 2018 Jan 11.
[Is] ISSN:1758-9193
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Neurofilament light chain protein (NfL) is a surrogate biomarker of neurodegeneration that has never been systematically tested, either alone or in combination with other biomarkers, in atypical/rapidly progressive neurodegenerative dementias (NDs). METHODS: Using validated, commercially available enzyme-linked immunosorbent assay kits, we measured cerebrospinal fluid (CSF) NfL, total tau (t-tau), phosphorylated tau, and ß-amyloid 42 in subjects with a neuropathological or clinical diagnosis of prion disease (n = 141), Alzheimer's disease (AD) (n = 73), dementia with Lewy bodies (DLB) (n = 35), or frontotemporal lobar degeneration (FTLD) (n = 44). Several cases with an atypical/rapidly progressive course were included in each group. We evaluated the diagnostic accuracy of every CSF biomarker and their combinations by ROC curve analyses. RESULTS: In each patient group CSF NfL showed higher levels than in control subjects, reaching the highest values in those with Creutzfeldt-Jakob disease (CJD). In the latter, NfL showed a divergent, subtype-specific correlation with t-tau, depending on the degree of subcortical involvement and disease duration. Most significantly, patients with classic sporadic CJD (sCJD) MM1 showed a significantly lower concentration of CSF NfL than those with sCJD MV2, despite the much higher t-tau levels and the more rapid clinical course. High NfL levels were also detected in most atypical CJD cases, showing a disease duration longer than 2 years and/or borderline/negative results in other CSF assays (e.g., 14-3-3, t-tau, and prion real-time quaking-induced conversion). Rapidly progressive/atypical cases showed higher NfL levels than typical patients in FTLD, but not in AD or DLB. NfL showed accuracy similar to that of t-tau in discriminating CJD from other NDs, but it had higher efficacy in differentiating atypical forms, especially in regard to Alzheimer's disease. CONCLUSIONS: The present data indicate that CSF NfL and t-tau levels reflect distinct pathophysiological mechanisms of neurodegeneration and support the clinical use of NfL as a fast screening biomarker for the differential diagnosis of atypical/rapidly progressive NDs.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review
[do] DOI:10.1186/s13195-017-0331-1

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[PMID]: 29310343
[Au] Autor:Yao Y; Dong X; Guan H; Lu Q
[Ad] Address:Department of Neurology, Peking Union Medical College Hospital, Dongcheng.
[Ti] Title:Cerebrospinal fluid real-time quaking-induced conversion test for sporadic Creutzfeldt-Jakob disease in an 18-year-old woman: A case report.
[So] Source:Medicine (Baltimore);96(48):e8699, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Sporadic Creutzfeldt-Jakob disease (sCJD) mainly occurs in the elderly, with the peak age of onset ranging from 55 to 75 years. The symptoms of sCJD are not unique, and laboratory tests such as magnetic resonance imaging (MRI), electroencephalogram (EEG) and cerebrospinal fluid (CSF)14-3-3 protein have low sensitivity or specificity. Therefore, excluding treatable diseases and establishing a diagnosis could be difficult in young patients with suspected sCJD. Recently, real-time quaking-induced conversion (RT-QuIC) has been used in the diagnosis of sCJD, with more than 95% sensitivity and 100% specificity. PATIENT CONCERNS: We report the case of an 18-year-old woman presented with cerebellar ataxia, blurred vision, rapidly progressive dementia, tremor and involuntary movements, urinary incontinence, mutism, and eventually myoclonus for 16 weeks. Brain MRI scans were unremarkable at the 4th and 8th week after initial symptom presentation, but showed hyperintensity in bilateral basal ganglia and cortical ribboning at the 16th week. Typical periodic bilateral triphasic sharp wave complexes on EEG did not appear until the 16th week after initial symptom presentation. DIAGNOSES: Due to the young age of the patient and the originally unremarkable MRI and EEG findings, we first considered treatable diseases such as autoimmune encephalitis, infections, organic acidemias and toxication. However, extensive tests ruled out these diseases. When she was finally diagnosed with probable sCJD, we were unable to perform a brain biopsy. We confirmed the diagnosis by detecting the scrapie form of prion protein in the CSF using RT-QuIC. INTERVENTIONS: Experimental treatments with corticosteroids, intravenous immunoglobulin and ganciclovir were given. OUTCOMES: Experimental treatments were ineffective. The patient's parents discharged her from our clinic. LESSONS: We present a case of probable sCJD with an early onset and a complex clinical picture confirmed by RT-QuIC. This case report suggests that RT-QuIC has great value for the diagnosis of atypical cases.
[Mh] MeSH terms primary: Creutzfeldt-Jakob Syndrome/cerebrospinal fluid
[Mh] MeSH terms secundary: Adolescent
Diagnosis, Differential
Electroencephalography
Female
Humans
Magnetic Resonance Imaging
Sensitivity and Specificity
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180115
[Lr] Last revision date:180115
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180110
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008699

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[PMID]: 29187684
[Au] Autor:Watanabe M; Matsumoto Y; Okamoto K; Okuda B; Mizuta I; Mizuno T
[Ad] Address:Department of Neurology, Ehime Prefectural Central Hospital.
[Ti] Title:[A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom].
[So] Source:Rinsho Shinkeigaku;57(12):753-758, 2017 Dec 27.
[Is] ISSN:1882-0654
[Cp] Country of publication:Japan
[La] Language:jpn
[Ab] Abstract:A 49-year-old man had developed gradually personality change, gait disturbance, and hearing loss for five years. On admission, he presented with frontal release signs, stuttering, vertical gaze palsy, sensorineural deafness, muscle rigidity, ataxia, and sensory disturbance with areflexia in the lower extremities. Brain MRI demonstrated atrophy in the cerebellum and midbrain tegmentum as well as cerebral atrophy, predominantly in the frontal lobe. He was tentatively diagnosed as progressive supranuclear palsy on the basis of clinical features and imagings. On nerve conduction study, no sensory nerve action potentials were elicited in the upper and lower extremities. Details of family history revealed a hereditary sensory neuropathy with autosomal dominant inheritance in his relatives. Because genetic analysis showed a rare missense mutation (c.1483T>C, p.Y495H) in DNA methyltransferase 1 gene, we diagnosed him as having hereditary sensory and autonomic neuropathy type 1E (HSAN1E). In addition, p.M232R mutation in prion protein gene was detected. It should be kept in mind that there are some patients with HSAN1E presenting with frontal lobe dysfunction as an initial symptom and with clinical features mimicking progressive supranuclear palsy.
[Mh] MeSH terms primary: Hereditary Sensory and Autonomic Neuropathies/diagnosis
Hereditary Sensory and Autonomic Neuropathies/genetics
[Mh] MeSH terms secundary: Atrophy
Brain/pathology
DNA (Cytosine-5-)-Methyltransferase 1/genetics
Diagnosis, Differential
Frontal Lobe
Hereditary Sensory and Autonomic Neuropathies/pathology
Hereditary Sensory and Autonomic Neuropathies/physiopathology
Humans
Male
Middle Aged
Mutation
Prion Proteins/genetics
Supranuclear Palsy, Progressive
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Prion Proteins); EC 2.1.1.37 (DNA (Cytosine-5-)-Methyltransferase 1); EC 2.1.1.37 (DNMT1 protein, human)
[Em] Entry month:1801
[Cu] Class update date: 180112
[Lr] Last revision date:180112
[Js] Journal subset:IM
[Da] Date of entry for processing:171201
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-001043

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[PMID]: 29307007
[Au] Autor:Murgai AA; Jog MS
[Ad] Address:Department of Clinical Neurological Sciences, London Health Sciences Centre, Western University, 339 Windermere Road, A10-026, London, ON, N6A 5A5, Canada.
[Ti] Title:Neurophysiology and neurochemistry of corticobasal syndrome.
[So] Source:J Neurol;, 2018 Jan 06.
[Is] ISSN:1432-1459
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Corticobasal syndrome is a rare neurodegenerative disorder, which presents with a progressive, asymmetrical, akinetic rigid syndrome and early cortical signs. However, clinical, pathological, and electrophysiological heterogeneity makes the understanding of this syndrome challenging. Corticobasal syndrome can have various pathological substrates including corticobasal degeneration, Alzheimer's disease, Fronto-temporal degeneration with TDP inclusions, Creutzfeldt-Jakob disease, and progressive supranuclear palsy (PSP). Furthermore, tools such as transcranial magnetic stimulation (TMS) and functional neuroimaging techniques like PET and SPECT have not been adequately used to supplement the clinico-pathological heterogeneity. TMS studies in CBS have revealed changes in cortical excitability and transcortical inhibition. Despite the availability of more than 2 decades, its potential in CBS has not been fully utilized in studying the cortical plasticity and effect of Levodopa on central neurophysiology. PET and SPECT studies in CBS have shown abnormalities in regional glucose metabolism, asymmetrical involvement of presynaptic dopaminergic system, and ascending cholinergic connections to the cortex. While most studies have shown normal D2 receptor-binding activity in striatum of CBS cases, the results have not been unanimous. Functional neuroimaging and TMS studies in CBS have shown the involvement of GABAergic, muscarinic, and dopaminergic systems. In this review, we aim to provide the current state of understanding of central neurophysiology and neurochemistry of CBS using TMS and functional neuroimaging techniques. We also highlight the heterogeneous nature of this disorder and the existing knowledge gaps.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180107
[Lr] Last revision date:180107
[St] Status:Publisher
[do] DOI:10.1007/s00415-017-8731-5

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[PMID]: 29190276
[Au] Autor:Diack AB; Will RG; Manson JC
[Ad] Address:The Roslin Institute & R(D)SVS, University of Edinburgh, Easter Bush, United Kingdom.
[Ti] Title:Public health risks from subclinical variant CJD.
[So] Source:PLoS Pathog;13(11):e1006642, 2017 11.
[Is] ISSN:1553-7374
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Creutzfeldt-Jakob Syndrome
[Mh] MeSH terms secundary: Animals
Creutzfeldt-Jakob Syndrome/diagnosis
Creutzfeldt-Jakob Syndrome/transmission
Humans
Public Health
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180102
[Lr] Last revision date:180102
[Js] Journal subset:IM
[Da] Date of entry for processing:171201
[St] Status:MEDLINE
[do] DOI:10.1371/journal.ppat.1006642

  10 / 6477 MEDLINE  
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[PMID]: 29142239
[Au] Autor:Vanni S; Moda F; Zattoni M; Bistaffa E; De Cecco E; Rossi M; Giaccone G; Tagliavini F; Haïk S; Deslys JP; Zanusso G; Ironside JW; Ferrer I; Kovacs GG; Legname G
[Ad] Address:Laboratory of Prion Biology, Department of Neuroscience, SISSA, Trieste, Italy.
[Ti] Title:Differential overexpression of SERPINA3 in human prion diseases.
[So] Source:Sci Rep;7(1):15637, 2017 Nov 15.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Prion diseases are fatal neurodegenerative disorders with sporadic, genetic or acquired etiologies. The molecular alterations leading to the onset and the spreading of these diseases are still unknown. In a previous work we identified a five-gene signature able to distinguish intracranially BSE-infected macaques from healthy ones, with SERPINA3 showing the most prominent dysregulation. We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30). Real Time-quantitative PCR was performed for SERPINA3 transcript, and ACTB, RPL19, GAPDH and B2M were used as reference genes. We report SERPINA3 to be strongly up-regulated in the brain of all human prion diseases, with only a mild up-regulation in AD. We show that this striking up-regulation, both at the mRNA and at the protein level, is present in all types of human prion diseases analyzed, although to a different extent for each specific disorder. Our data suggest that SERPINA3 may be involved in the pathogenesis and the progression of prion diseases, representing a valid tool for distinguishing different forms of these disorders in humans.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171126
[Lr] Last revision date:171126
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-017-15778-8


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