Creutzfeldt-Jakob disease (CJD) is a rare spongiform encephalopathy characterized by a rapid neurodegenerative progress, caused by a misfolded variant of the cellular prion protein (PrP) known as PrPSc. The clinical presentation of sCJD includes a wide range of neurological signs of cortical, subcortical...
Resumen: La enfermedad de Creutzfeldt-Jakob (ECJ) es una patología neurodegenerativa transmisible, producida por una proteína anómala infectante denominada prion. Junto con el kuru, el insomnio familiar fatal y el síndrome de Gerstmann-Stráussler-Scheinker, configura el grupo de las llamadas encefal...
The infectious protein or prion (PrPSC) is a transmissible and replicable polypeptide, which arises from an abnormal folding of the PrP protein, by unknown mechanisms and without changes in the primary sequence of its amino acids. Its new spatial disposition arises from the substitution of its alpha heli...
Recently, the problem of neurodegenerative diseases in the medical community has become increasingly relevant. This is due to many factors: from insufficiently studied mechanisms of development of some nosological units to low awareness of medical workers. Among neurodegenerative diseases in humans, prio...
As doenças priônicas fazem parte do grupo das síndromes de demência
rapidamente progressiva com neurodegeneração. Em humanos,
a doença de Creutzfeldt-Jakob é a mais prevalente. Atualmente,
seu diagnóstico pode ser baseado em uma combinação
do quadro clínico, ressonância magnética e eletroen...
Síndrome de Creutzfeldt-Jakob/diagnóstico,
Mareo/etiología,
Síndrome de Creutzfeldt-Jakob/complicaciones,
Laberintitis/etiología,
Disfunción Cognitiva/etiología,
Ataxia Cerebelosa/etiología,
Mioclonía/etiología,
Demencia/etiología,
Síndrome de Creutzfeldt-Jakob/diagnóstico por imagen,
Espectroscopía de Resonancia Magnética,
Mutismo Acinético/etiología,
Neumonía Asociada a la Atención Médica,
Resultado Fatal,
Síndrome de Creutzfeldt-Jakob/genética,
Trastornos de la Visión,
Proteínas Priónicas/aislamiento & purificación,
Biopsia,
Cerebro/patología,
Inmunoquímica,
Western Blotting,
Electroencefalografía,
Proteínas Priónicas/líquido cefalorraquídeo
Eyelid retraction, has received limited attention and it has passively been interpreted as the result of an overactive levator palpebrae superioris muscle secondary to midbrain injury. However, eyelid retractions can occur in other neurological diseases, not directly related with the midbrain. We report ...
La enfermedad de Creutzfeldt-Jakob (ECJ) corresponde una enfermedad por priones, la cual se manifiesta como demencia rápidamente progresiva. Dentro de sus manifestaciones clínicas puede presentar deterioro cognitivo progresivo y mioclonías, entre otros. El objetivo de este trabajo es dar a conocer la ...
Creutzfeldt-Jakob disease has a higher incidence in Chile than in other countries. The post mortem pathological characterization of brain tissue is necessary to reach a definitive diagnosis. We report a 73 years old man with a history compatible with of a rapidly progressive dementia, in which the first ...
