Background: Transmissible spongiform encephalopathies are neurodegenerative diseases caused by abnormal accumulation of pathogenic isoform the prion protein, which induces the formation of conglomerates protein resistant to degradation. They are also responsible for synaptic dysfunction, neuronal damage and the classic symptoms of disease. This membrane protein is encoded by exon 2 of the gene PRNP, located on the short arm of chromosome 20 and appears to be involved in synaptic transmission, signal transduction, the antioxidant activity of the superoxid dismutasa, neuroplasticity and cell survival. One polymorphism at codon 129 is associated with differential susceptibility to disease sporadic Creutzfeldt-Jakob disease. Aim: Clinical, pathological and molecular report on an 58 year-old woman with pathological diagnosis of Creutzfeldt-Jakob sporadic disease. Methods and results: The clinic course appears with a behavior depressive disorder with progressive dementia and symptoms. At the end of the disease, the scenario progressed to a neurological deficit focused on the visual area. The MRI showed nonspecific hyperintensity in cortiço-subcortical nucleus in the striatum, the EEG showed patterns of recurrent generalized discharges and complex three-phase, the brain biopsy post-morten showed severe loss of the neuronal population in all the layers, vacuoles in the neuropil, in the neuronal soma and the glial. The analysis of sequence of the gene PR-NP identified homozygotes for methionine at codon 129. The patient died at 3 months of the onset of symptoms. Conclusions: Epidemiology, clinical course and paraclinical examinations confirmed the diagnosis of Creutzfeldt-Jakob sporadic. The genotyping for polymorphisms of risk becomes useful tool to complement through molecular diagnosis and to deepen the understanding of the pathophysiology of Creutzfeldt-Jakob disease, both for sporadic forms and for the new variant.
|Translated title of the contribution||Sporadic Creutzfeldt-Jakob disease: Clinical, pathological and molecular study|
|Number of pages||12|
|Journal||Revista ciencias de la salud|
|State||Published - 2008|
All Science Journal Classification (ASJC) codes
- Medicine (miscellaneous)
- Health(social science)