Familial Creutzfeld-Jakob disease, compatible with PRNP c.532G>A (p.Asp178sn) gene mutation


  • Yeiscimin Sánchez-Escobedo 1. Hospital Regional de Poza Rica, PEMEX. Departamento de Medicina Interna. Poza Rica, Veracruz; México
  • María del Rosario López-Zapata Hospital Central Sur de Alta Especialidad (H.C.S.A.E.), PEMEX. Departamento de Neurología. Tlalpan, Ciudad de México
  • Julio César López-Valdés Hospital Central Sur de Alta Especialidad
  • Rafael Sanchez Hospital Central Sur de Alta Especialidad (H.C.S.A.E.), PEMEX. Departamento de Neurocirugía. Tlalpan, Ciudad de México.
  • Laura Mestre-Orozco Centro Médico American British Cowdray, Departamento de Patología Cuajimalpa, Ciudad de México
  • Ulises García-González Hospital Central Sur de Alta Especialidad (H.C.S.A.E.), PEMEX. Departamento de Neurocirugía. Tlalpan, Ciudad de México


Prion disease, familial variant, Creutzfeld-Jakob, prionopathies


Background: Prion disease is a rare entity; a prevalence between 0.32-1.73 per million people is estimated. The familial form corresponds to 10% of the total cases, with a peak of presentation between 40-50 years. Over fourty known germline mutations have been described, the most frequent being c.598G>Ap.Glu200Lys (E200K). Case presentation: A 41-year-old man who began in November 2021 with progressive memory impairment. In April 2022 tremor was added in all four limbs, with balance disturbances. A neurological examination with data compatible with dementia, pancerebellar and parkinsonian syndromes. Magnetic resonance imaging showed symmetrical and bilateral hyperintensities of the basal ganglia. Due to the findings and family history, a sequencing search for the PrP gene was performed, resulting in a mutation of the PrPSc gene c.532G>A (p. Asp178sn), compatible with a familial variant of Creutzfeldt Jacob Disease. Conclusions: Prionopathy should be considered as a diagnosis to rule out in people with rapidly progressive dementia. Although there are both clinical and paraclinical diagnostic criteria, diagnosis through DNA sequencing is necessary to determine de novo or autosomal dominant hereditary mutations.


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How to Cite

Sánchez-Escobedo, Y., López-Zapata, M. del R., López-Valdés, J. C., Sánchez-Mata, R., Mestre-Orozco, L., & García-González, U. (2023). Familial Creutzfeld-Jakob disease, compatible with PRNP c.532G>A (p.Asp178sn) gene mutation. Archivos De Neurociencias, 1(Inpress). Retrieved from https://archivosdeneurociencias.org/index.php/ADN/article/view/466



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