Identificación clínica y patológica de las diversas formas de la enfermedad de Creutzfeldt Jakob en Chile

Self Cite

Section: Discussionunclassified

Retracción palpebral de causa neurológica: Presentación de tres pacientes, interpretación patogénica

2017

Self Cite

“…La incidencia anual mundial de la ECJ esporádica es de 1-2 casos por millón de habitantes 2,4,6 , y según series nacionales, la incidencia en Chile sería mayor, con 3,5 casos por millón de habitantes 7,8 . Los criterios diagnósticos de la ECJ esporádica han cambiado a través de la historia, según la existencia de exámenes paraclínicos que apoyan la sospecha, siendo el diagnóstico definitivo neuropatológico.…”

Section: Servicio De Neurología Complejounclassified

Enfermedad de Creutzfeldt-Jakob: experiencia de 5 años en un hospital terciario de Chile

Legua-Koc¹,

Castillo-Torres

León-Mantero

et al. 2021

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. Patients and Methods: 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. Results: 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%. 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.

“…Por el modo cómo se desarrolla la enfermedad, todos los pacientes de ECJ tienen aspectos clínicos comunes, independientes de la forma evolutiva, que permiten orientar el diagnóstico de esta encefalopatía cognitivo-motora lúcida. Debe analizarse: a) conducta; b) motricidad, c) compromiso cognitivo y vigilancia; d) visión; e) clonías 26 . En todos los casos la anamnesis y el examen neurológico de rutina basado en los parámetros antedichos permiten orientarse.…”

Section: Clasificación De Parchi Y Cols De 1999unclassified

“…La neuropatología define una fina espongiosis en cuerpos estriados, corteza frontal y occipital, pérdida neuronal y gliosis concordante. Con anti-prión se visualizan depósitos sinápticos de proteína prión 26,36 . La ECJ es una sinaptopatía que produce desaferentación neural particularmente en el núcleo de Meynert, principal núcleo colinérgico activador de la corteza cerebral, cuya desconexión genera la reducción del tamaño del núcleo, con menor número de neuronas y atrofia de las remanentes 37 .…”

Section: Formas Clínicas De La Enfermedad De Creutzfeldt-jakobunclassified

“…EEG inespecífico, LCR normal con infrecuente elevación de proteína 14-3-3. La neuropatología muestra espongiosis de mediano calibre en núcleos estriados, tálamos y capa molecular del cerebelo, La corteza cerebelosa muestra entre las células de Purkinje placas de Kuru (depósitos fi-brilares de proteína prión), también se pueden ver en tálamo, con hematoxilina eosina o PAS, pero especialmente con anti-prión 26 . Se ha establecido que este tipo de priones (MV2 K) es común para esta forma clínica y para el Kuru 45 .…”

Section: Forma Con Placas De Kuru (Mv2k) 5%unclassified

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Enfermedad por priones, encefalopatía espongiforme humana y enfermedad de Creutzfeldt-Jakob

Cartier-Rovirosa

2019

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 helices by beta bands, which increase its structural stability, avoiding its complete proteolysis, resulting in a residual accumulation of prions. These prions induce the misfolding of normal PrP protein, generating their exponential increase, leading to a disturbance of neuronal homeostasis which results in the development of the fatal spongiform encephalopathy of the Creutzfeldt-Jakob disease (CJD). This is the most prevalent human prion disease, and 90% of cases are sporadic, suggesting the endogenous genesis of prions. There are different types of prions, identified based on the genetic variance of codon 129 amino acids of the prion protein. Meteonin (M) and Valine (V)), associated with the result of their enzymatic proteolysis, define prions type 1 (21 kDa) and type 2 (19 kDa). The Classical form of CJD produced by MM1 prion occurs in 70% of the cases. The Cerebellar form originated by the VV2 prion occurs in 15% of cases, the form with Kuru plates, associated with the prion MV2 occurs in 5%, and the Vacuolar, related to the MM2 prion occurs in 4%. CJD is always characterized by behavioral, motor, cognitive, and vision alterations and by findings in magnetic resonance imaging, electroencephalogram and cerebrospinal fluid that define each clinical and neuropathological form.