Brain Advance Access originally published online on September 22, 2009
Brain 2009 132(10):2659-2668; doi:10.1093/brain/awp191
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Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease
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
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: epicjd{at}med.uni-goettingen.de
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.
Key Words: CJD; MRI; FLAIR; DWI; molecular subtypes; dementia
Abbreviations: CSF, cerebrospinal fluid; DWI, diffusion-weight imaging; EEG, electroencephalography; FLAIR, fluid attenuated inversion recovery; IgG, immunglobulin G; MRI, magnetic resonance imaging; sCJD, sporadic Creutzfeldt–Jakob disease; PRNP, prionprotein gene; PrPSc, pathogenic Prion protein; SREAT, steroid responsive encephalitis associated with autoimmune thyroiditis
Received March 26, 2009. Revised June 12, 2009. Accepted June 14, 2009.