Positive 14-3-3 and tau proteins in a sporadic Creutzfeldt-Jakob disease case and a brief perspective of prion diseases in Colombia

Escandón-Vargas, Kevin; Zorrilla-Vaca, Andrés; Corral-Prado, Raúl Heli

doi:10.7705/biomedica.v36i3.2729

Cited by 3 publications

(2 citation statements)

References 20 publications

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“…10 En Colombia, al respecto de CJD, Escandón-Vargas y su equipo reportaron 29 casos conocidos hasta 2016. 17 En Venezuela, un reporte de casos de Hernández y colegas identificó 19 casos definitivos hasta 2017. 18 En Ecuador, en 2016 Alemán-Iñiguez y su grupo mencionan un total de siete casos confirmados, mientras que en 2018 Torres Herrán y colaboradores presentaron un caso confirmado nuevo y cinco probables, hubo entonces un total de ocho casos confirmados hasta 2018.…”

Section: Proteínas Priónicasunclassified

Enfermedades priónicas y enfermedades similares a priones

Castillo-Juárez¹,

Batres-Godoy²,

Calderón³

et al. 2022

Neurología, Neurocirugía Y Psiquiatría

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Las enfermedades priónicas son un grupo de enfermedades neurodegenerativas, con una incidencia global de uno a dos casos por millón y que en muchas ocasiones pasan desapercibidas por el personal sanitario, lo que retrasa su diagnóstico. Si bien estas enfermedades afectan principalmente al sistema nervioso central, se han encontrado alteraciones en diversos sistemas del organismo. Por otro lado, se ha evidenciado que patologías neurodegenerativas como Parkinson y Alzheimer poseen en su fisiopatología mecanismos moleculares similares a los encontrados en las enfermedades priónicas. El objetivo de esta revisión es aportar información al conocimiento y comprensión de la epidemiología, etiología, manifestaciones clínicas, diagnóstico y estado actual de las investigaciones para posibles tratamientos de las enfermedades priónicas, además de brindar una descripción de las patologías similares a priones. Esto se realizó por medio de la búsqueda de información en PubMed, Science Direct, Europe PMC, Google Scholar, Scielo y Redalyc. Se identificó que el Real-time quaking-induced conversion es una de las tecnologías más prometedoras para el diagnóstico de enfermedades priónicas, que existen investigaciones en etapas iniciales para el tratamiento de enfermedades priónicas y que el conocimiento de los mecanismos similares a priones en enfermedades degenerativas puede contribuir a una mejor comprensión de éstas.

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Section: Proteínas Priónicasunclassified

Enfermedades priónicas y enfermedades similares a priones

Castillo-Juárez¹,

Batres-Godoy²,

Calderón³

et al. 2022

Neurología, Neurocirugía Y Psiquiatría

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“…Human prion diseases are fatal neurodegenerative disorders with diverse phenotypes, including, but not limited to Creutzfeldt–Jakob disease (CJD), Gerstmann–Sträussler–Scheinker syndrome (GSS), fatal familial insomnia, and kuru 1,2. Various clinical symptoms may appear inprion diseases, such as cognitive dysfunctions, psychiatric symptoms, motoric impairment (ataxia, dysarthria), myoclonus, visual problems, or weakness 3,4.…”

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confidence: 99%

<p>Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease</p>

Bagyinszky

Yang²,

Giau

et al. 2019

CIA

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Background: A novel prion variant, PRNP p.Tyr225Cys (c.674A>G; p.Y225C), was identified in an atypical Creutzfeldt–Jakob disease (CJD) patient. The patient had a 5-year history of progressive cognitive impairment with speech and gait disturbances. From the basic neurological examination at his first hospital visit, rigidity and myoclonic jerks in all limbs were observed without focal weakness. Electroencephalogram showed the diffuse slow continuous delta activity in the bilateral cerebral hemisphere. Magnetic resonance imaging revealed abnormalities in the brain, such as cortical signal changes and edema in the frontotemporoparietal lobes and the basal ganglia. Cerebrospinal fluid 14–3-3 protein analysis showed a weakly positive signal. Family history remained unclear, but the patient’s mother and sister were diagnosed with cognitive impairment but both refused genetic testing. Methods: Targeted next generation sequencing (NGS) was performed on 50 genes, involved in different neurodegeneratives diseases, such as Alzheimer's, Parkinson's, frontotemporal dementia or prion diseases. In silico analyses and structure predictions were performed on the potential patohgenic mutations. Results: NGS and standard sequencing revealed the novel PRNP p.Tyr225Cys mutation in the patient. Structure predictions revealed that this may make the helix more flexible. In addition, the extra cysteine residue in TM-III of prion protein may result in disturbances of natural disulfide bond. Conclusion: Hence, the pathogenicity of PRNP p.Tyr225Cys was not fully confirmed at present, and its penetrance was suggested to be low. However, its possible pathogenic nature in prion diseases cannot be ignored, since Tyr/Cys exchange could disturb the helix dynamics and contribute to conformational alteration and disease progression.

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Determination of prion proteins in the diagnosis of Creutzfeldt-Jakob disease using RT-QuIC: A case report from northeastern Colombia

Lizarazo,

Vargas,

Olarte

et al. 2024

Biomed.

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Creutzfeldt-Jakob disease is a rare neurodegenerative disease caused by prions.We present the case of a woman in the seventh decade of life with rapidly progressive dementia and myoclonus. Her brain magnetic resonance imaging revealed lesions in the basal nuclei, and the electroencephalogram showed periodic bilateral epileptiform discharges.In the cerebrospinal fluid, the prion protein was detected using the real-time quaking-induced conversion test (RT-QuIC), and elevated levels of tau and 14-3-3 proteins. We emphasize the significance of determining the prion protein in the definitive diagnosis of this disease.

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Positive 14-3-3 and tau proteins in a sporadic Creutzfeldt-Jakob disease case and a brief perspective of prion diseases in Colombia

Cited by 3 publications

References 20 publications

Enfermedades priónicas y enfermedades similares a priones

Enfermedades priónicas y enfermedades similares a priones

<p>Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease</p>

Determination of prion proteins in the diagnosis of Creutzfeldt-Jakob disease using RT-QuIC: A case report from northeastern Colombia

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