Updated clinical diagnostic criteria for sporadic Creutzfeldt Jakob disease
Posted Sep 23 2009 10:52pm
Brain Advance Access published online on September 22, 2009 Brain, doi:10.1093/brain/awp191
The Author(s) 2009. Published by Oxford University Press on behalf of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/2.5/uk/ ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Updated clinical diagnostic criteria for sporadic Creutzfeldt Jakob disease
I. Zerr1, K. Kallenberg2, D. M. Summers3, C. Romero4, A. Taratuto4, U. Heinemann1, M. Breithaupt1, D. Varges1, B. Meissner1, A. Ladogana5, M. Schuur6, S. Haik7, S. J. Collins8, Gerard H. Jansen9, G. B. Stokin10, J. Pimentel11, E. Hewer12, D. Collie3, P. Smith13, H. Roberts8, J. P. Brandel7, C. van Duijn6, M. Pocchiari5, C. Begue4, P. Cras14, R. G. Will3 and P. Sanchez-Juan15 1 National TSE Reference Center, Department of Neurology, Georg-August University Goettingen, Goettingen, Germany 2 Department of Neuroradiology, Georg-August University Goettingen, Goettingen, Germany 3 CJD Surveillance Unit, Western General Hospital, Edinburgh, UK 4 Departamento de Neuropatologia, Centro de Referencia de Encefalopatias Espongiformes Transmisibles, Instituto de Investigaciones Neurologicas/FLENI Montañeses 2325 C1428AQK, Buenos Aires, Argentina 5 Istituto Superiore di Sanità, Department of Cell Biology and Neurosciences, Roma, Italy 6 Genetic Epidemiology Unit, Department of Epidemiology, Biostatistics and Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands 7 INSERM UMRS 975, Hôpital de la Salpêtrière Cellule Nationale de référence des maladies de Creutzfeldt-Jakob Paris, F-75013, France 8 Australian National Creutzfeldt-Jakob Disease Registry, Department of Pathology, the University of Melbourne, Parkville, Australia 3010 9 Creutzfeldt-Jakob Disease Surveillance System, Prion Diseases Program, Public Health Agency of Canada, Ottawa, Canada 10 Division of Neurology, University Medical Center and Gerontopsychiatric Unit, University Psychiatric Hospital, SI-1000 Ljubljana, Slovenia 11 Department of Neurology, Laboratory of Neuropathology, Institute of Molecular Medicine, Hospital de Santa Maria, Lisbon Faculty of Medicine, Lisbon, Portugal 12 Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland 13 Clinic Director, Mercy Private Radiology, Grey st, East Melbourne, 3002, Australia 14 Laboratory of Neurobiology, Department of Neurology, Born Bunge Institute, University of Antwerp, Belgium 15 Fundación ‘Marqués de Valdecilla’ IFIMAV and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED). Santander, Spain
Correspondence to: Corresponding author: Inga Zerr, MD, National TSE Reference Center, Department of Neurology, Georg-August University Goettingen, Robert-Koch-Str. 40, 37075 Goettingen, Germany E-mail: firstname.lastname@example.org
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 resonance imaging was positive in 83% of cases. In all definite cases, the amended criteria would cover the vast majority of suspected cases, being positive in 98%. Cerebral cortical signal increase and high signal in caudate nucleus and putamen on fluid attenuated inversion recovery or diffusion-weight imaging magnetic resonance imaging are useful in the diagnosis of sporadic Creutzfeldt–Jakob disease. We propose an amendment to the clinical diagnostic criteria for sporadic Creutzfeldt–Jakob disease to include findings from magnetic resonance imaging scans.
Characteristics of Established and Proposed Sporadic Creutzfeldt-Jakob Disease Variants
Brian S. Appleby, MD; Kristin K. Appleby, MD; Barbara J. Crain, MD, PhD; Chiadi U. Onyike, MD, MHS; Mitchell T. Wallin, MD, MPH; Peter V. Rabins, MD, MPH
Background: The classic Creutzfeldt-Jakob disease (CJD), Heidenhain, and Oppenheimer-Brownell variants are sporadic CJD (sCJD) phenotypes frequently described in the literature, but many cases present with neuropsychiatric symptoms, suggesting that there may be additional sCJD phenotypes.
Objective: To characterize clinical, diagnostic, and molecular features of 5 sCJD variants.
Design: Retrospective analysis.
Setting: The Johns Hopkins and Veterans Administration health care systems.
Participants: Eighty-eight patients with definite or probable sCJD.
Main Outcome Measures: Differences in age at onset, illness progression, diagnostic test results, and molecular subtype.
Results: The age at onset differed among sCJD variants (P=.03); the affective variant had the youngest mean age at onset (59.7 years). Survival time (P.001) and the time to clinical presentation (P=.003) differed among groups. Patients with the classic CJD phenotype had the shortest median survival time from symptom onset (66 days) and those who met criteria for the affective sCJD variant had the longest (421 days) and presented to clinicians significantly later (median time from onset to presentation, 92 days; P=.004). Cerebrospinal fluid analyses were positive for 14-3-3 protein in all of the affective variants, regardless of illness duration. Periodic sharp-wave complexes were not detected on any of the electroencephalography tracings in the Oppenheimer-Brownell group; basal ganglia hyperintensity was not detected on brain magnetic resonance imaging in this group either. All of the Heidenhain variants were of the methionine/ methionine type 1 molecular subtype.
Conclusions: The classic CJD phenotype and the Heidenhain, Oppenheimer-Brownell, cognitive, and affective sCJD variants differ by age at disease onset, survival time, and diagnostic test results. Characteristics of these 5 phenotypes are provided to facilitate further clinicopathologic investigation that may lead to more reliable and timely diagnoses of sCJD.
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