Brain Advance Access originally published online on May 23, 2006
Brain 2006 129(9):2288-2296; doi:10.1093/brain/awl123
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Clinical findings and diagnostic tests in the MV2 subtype of sporadic CJD
1 Department of Neurology, Georg-August University Göttingen Germany 2 Department of Neuropathology, Georg-August University Göttingen Germany 3 Department of Neuroradiology, Georg-August University Göttingen Germany 4 Department of Neuropathology, Ludwig-Maximillian University Munich Germany 5 Department of Neuroradiology, Western General Hospital Edinburgh UK
Corresponding author: Prof. Dr Inga Zerr, Neurologische Klinik und Poliklinik, Georg-August-Universität Göttingen, Robert-Koch Strasse 40, D-37075 Göttingen, Germany E-mail: epicjd{at}med.uni-goettingen.de
Atypical clinical course and low sensitivity of established diagnostic tests are the main diagnostic problems in the MV2 subtype of sporadic Creutzfeldt–Jakob disease (sCJD). Clinical symptoms and signs, MRI, EEG and biochemical CSF markers were studied in 26 patients. Histological findings were semiquantitatively evaluated. Compared with typical sCJD, the disease duration was prolonged (median 12 months). Dementia, ataxia and psychiatric symptoms were present in all patients. Extrapyramidal signs were observed in 88%. T2-weighted MRI showed basal ganglia hyperintensities in 90%. Increased thalamic signal intensity was detected in 88% on diffusion-weighted MRI. Increased CSF tau-protein was found in 83%, and the 14-3-3 test was positive in 76%. The EEG revealed periodic sharp wave complexes in only two patients. Kuru plaques, severe thalamic and basal ganglia gliosis and spongiform changes, and neuronal loss in the pulvinar were the prominent histological features. At least one of the three diagnostic tests (MRI, tau- and 14-3-3 protein) supported the clinical diagnosis in all patients. MRI was the most sensitive of the diagnostic tests applied. Thalamic hyperintensities were observed unusually frequently. Prolonged disease duration, early and prominent psychiatric symptoms, absence of typical EEG, thalamic hyperintensities on MRI and relatively low 14-3-3 protein sensitivity may be suspicious for variant CJD. However, distinct sensory symptoms and young age at onset, which are often found in the latter, are not common in the MV2 subtype, and the pulvinar sign was observed in only one case.
Key Words: CJD; MV2 subtype; MRI; Pulvinar sign; diagnosis
Abbreviations: sCJD, sporadic Creutzfeldt–Jakob disease
Received November 25, 2005. Revised January 25, 2006. Accepted April 10, 2006.
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