Clinical features of Creutzfeldt-Jakob disease with V180I mutation
- 10 February 2004
- journal article
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology
- Vol. 62 (3), 502-505
- https://doi.org/10.1212/01.wnl.0000106954.54011.80
Abstract
The authors describe the clinical features of Creutzfeldt-Jakob disease (CJD) with the causative point mutation at codon 180. The symptoms never started with visual or cerebellar involvement. The patients showed slower progression of the disease compared with sporadic CJD. They never showed periodic sharp and wave complexes in EEG. MRI demonstrated remarkable high-intensity areas with swelling in the cerebral cortex except for the medial occipital and cerebellar cortices. These characteristic MRI findings are an important clue for an accurate premortem diagnosis.This publication has 4 references indexed in Scilit:
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