Magnetresonanztomographie bei Patienten mit der E200K- und V210I-Mutation

Abstract

Prion diseases are a group of rare infectious neurodegenerative disorders, which are caused by aggregation of the misfolded pathological prion protein. Three subtypes can be distinguished according to their etiology: sporadic Creutzfeldt-Jakob disease (CJD), infectious prion diseases, such as iatrogenic CJD and the new variant CJD and genetic prion diseases. All of them lead to progressive disability and inevitable to the death of affected patients. Genetic prion diseases are caused by a mutation of the prion protein gene (PRNP). The two most common mutations E200K and V210I lead to a clinical phenotype, which is very similar to the most common phenotype of sporadic CJD. Patients often present with dementia, ataxia, visual disturbances and myoclonus. The definite diagnosis of prion diseases requires neuropathological examination of brain tissue either by brain biopsy or post-mortem examination. Defined clinical diagnostic criteria, however, allow a diagnosis of probable prion disease with fairly high sensitivity. Diagnostic criteria include clinical symptoms as well as the EEG, examination of the cerebrospinal fluid and since recently the cranial MRI. The aim of this study was to investigate if the defined MRI-criteria for sporadic CJD are also applicable to E200K- and V210I-patients and if the pattern of lesions might allow a differentiation between genetic and sporadic CJD. In our patient cohort of 29 genetic CJD patients no differences could be found between the patient group and matched control group of sporadic CJD patients regarding sensitivity of MRI or lesion distribution. Genetic testing for potential mutations in the PRNP remains crucial in order to diagnose genetic CJD.