Abstract

Creutzfeldt-Jakob disease (CJD) is a prion affection that typically produces a rapidly progressive dementia with different neurologic and extra-neurologic manifestations. To characterize clinical, imaging and electroencephalography findings in patients with a probable CJD. A case series study of patients admitted in the Neurology department at a public hospital, between 2014 and 2019. Demographic, clinical, imaging, and electroencephalographic data of patients with probable CJD were analyzed. Seventeen patients aged 63 ± 11 years (53% women) with a probable CJD were gathered. The incidence was 4.7 cases/year per million inhabitants. Twenty four percent of patients had a family history of CJD. The median time between the onset of symptoms and the hospital admission was three months with a survival of four months. The most common clinical manifestations were an amnesic syndrome in 88%, myoclonus in 76%, frontal syndrome and ataxia in 71%. Brain MRI was abnormal in all patients. The preponderant finding was the involvement of the caudate nucleus in 82% of cases. In the EEG, 94% of patients had abnormalities. All had a theta-delta slowing as a base rhythm. The pseudo-periodic pattern was observed in the 29% and status epilepticus in 18%. In this group of patients we observed the heterogeneity of the clinical manifestations of the disease, the frequent imaging and electroencephalographic alterations and the short evolution time leading to death.

Highlights

  • Creutzfeldt-Jakob disease (CJD) is a prion affection that typically produces a rapidly progressive dementia with different neurologic and extra-neurologic manifestations

  • Estudio de una serie de casos donde se revisaron fichas clínicas de 53 pacientes hospitalizados en el Servicio de Neurología del Hospital Barros Luco Trudeau (HBLT) de Santiago de Chile, con el diagnóstico de ingreso o egreso de “síndrome demencial en estudio” o “síndrome demencial rápidamente progresivo”, en el período comprendido entre enero de 2014 y enero de 2019

  • Redefining Periodic Patterns on Electroencephalograms of Patients with Sporadic Creutzfeldt-Jakob Disease.Clin Neurphysiol 2017; 128 [5]: 756-62

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Summary

Background

Creutzfeldt-Jakob disease (CJD) is a prion affection that typically produces a rapidly progressive dementia with different neurologic and extra-neurologic manifestations. Aim: To characterize clinical, imaging and electroencephalography findings in patients with a probable CJD. Conclusions: In this group of patients we observed the heterogeneity of the clinical manifestations of the disease, the frequent imaging and electroencephalographic alterations and the short evolution time leading to death. La enfermedad priónica más descrita es la enfermedad de Creutzfeldt-Jakob (ECJ), la que puede clasificarse en esporádica (85%), familiar (10%), iatrogénica y variante. Los criterios inicialmente se basaban en la clínica y electroencefalograma (EEG), luego se añadieron la proteína 14-3-3 en líquido cefalorraquídeo (LCR) y la resonancia magnética (RM) de cerebro, hasta la actualidad, en que se han identificado diferentes mutaciones del gen PRNP y polimorfismos en el codón 1295 y, más recientemente, la técnica fluorimétrica real-time quaking-induced conversion (RT-QuIC) que detecta pequeñas cantidades de proteína priónica anormal en LCR u otros tejidos. A continuación, presentamos un estudio de las características clínicas, imagenológicas y electroencefalográficas de 17 pacientes con diagnóstico de ECJ probable

Pacientes y Métodos
Antecedente familiar de ECJ Edad promedio de fallecimiento
Generalizado Focal Total
Findings
Conclusión

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