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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Enfermedad familiar de Creutzfeldt-Jakob (mutación del codón 200) con parálisis supranuclear
J M Bertoni1, P Brown, L G Goldfarb
1Department of Neurology, Creighton University, Omaha, Neb 68131-2197.
JAMA
|November 4, 1992
Resumen
Una mutación genética en el gen PRNP (codon 200Lys) está relacionada con la enfermedad atípica de Creutzfeldt-Jakob (ECJ) en una gran familia. Este descubrimiento amplía la comprensión de los fenotipos familiares de la ECJ.
Área de la Ciencia:
- La neurogenética es la neurogenética.
- Enfermedades Priónicas Enfermedades Priónicas.
- Biología Molecular Biología Molecular
Sus antecedentes:
- La enfermedad de Creutzfeldt-Jakob (ECJ) es un trastorno neurodegenerativo raro y fatal.
- La ECJ familiar (ECJf) representa una minoría de casos y está vinculada a mutaciones genéticas.
- Las presentaciones atípicas de fCJD plantean desafíos de diagnóstico.
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