NR ATKL
AU Krasnianski,A.; Schulz-Schaeffer,W.J.; Kallenberg,K.; Roeber,S.; Meissner,B.; Bartl,M.; Varges,D.; Heinemann,U.; Kretzschmar,H.A.; Zerr,I.
TI Clinical findings and diagnostic tests in the MV2 subtype of sporadic Creutzfeldt-Jakob disease
QU International Conference - Prion 2005: Between fundamentals and society's needs - 19.10.-21.10.2005, Congress Center Düsseldorf - Poster Session: Diagnosis DIA-23
PT Konferenz-Poster
AB
Objective: To describe the clinical features and diagnostic tests of the MV2 subtype in sporadic Creutzfeldt-Jakob disease (sCJD).
Methods: Neurological and psychiatric symptoms, MRI, EEG, and biochemical CSF markers were studied in 26 genetically and neuropathologically verified MV2 patients. Histological findings were semiquantitatively evaluated.
Results: In comparison with the common sCJD phenotype, the disease duration was prolonged (median 12 months). Dementia, ataxia, and psychiatric symptoms were obligatory. Extrapyramidal signs were observed in 88%. T2-weighted MRI showed basal ganglia hyperintensities in most cases (90%). Increased thalamic signal intensity was found on T2-, proton density- or diffusion-weighted imaging in 10 of 20 patients with available MRI. Increased CSF tau-protein was found in 83%, and the 14-3-3 test was positive in 76%. The EEG revealed typical periodic sharp wave complexes in only two patients. Kuru plaques, severe thalamic and basal ganglia gliosis and spongiformic changes, as well as neuronal loss in the pulvinar and frontal cortex were the most prominent histological features.
Conclusion: At least one of three diagnostic tests (MRI, tau-, and 14-3-3 protein) supported the clinical diagnosis in all patients. The MRI was the most sensitive diagnostic test. Thalamic hyperintensities were observed in 50% of our patients. Prolonged disease duration, early and prominent psychiatric symptoms, absent typical EEG findings, thalamic hyperintensities on MRI, and relatively low 14-3-3 protein sensitivity may be suspicious for variant CJD. However, distinct sensory symptoms, young age at onset, and classical pulvinar sign often found in the latter are not common in the MV2 subtype.
AD A.Krasnianski, W.J.Schulz-Schaeffer, K.Kallenberg, B.Meissner, M.Bartl, D.Varges, U.Heinemann, I.Zerr, Georg-August-University, Göttingen,Germany; S.Roeber, H.A.Kretzschmar, Ludwig-Maximillian-University, Munich, Germany
SP englisch
PO Deutschland