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


  • Yeiscimin Sánchez-Escobedo 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.


Pelayo-Salazar ME, Salazar-Castillo OA, de la Torre-Rendón FE, Mestre-Orozco L, López-Valdés JC. Rapidly progressive encephalopathy with evidence of spongiform encephalopathy through biopsy, J. Taibah Univ. Medical Sci., in press article. https://doi.org/10.1016/j.jtumed.2022.05.009. DOI: https://doi.org/10.1016/j.jtumed.2022.05.009

Liao YC, Lebo RV, Clawson GA, Smuckler EA. Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implications. Science. 1986; 233(4761): 364-7. doi: 10.1126/science.3014653. DOI: https://doi.org/10.1126/science.3014653

Choreño-Parra JA, Pacheco-Sánchez FJ, Rodríguez-Nava AI, García-Quintero G, Rodríguez-Muñoz PE, Guadarrama-Ortiz P. Clinical characteristics of Creutzfeldt-Jakob disease in Mexico: A retrospective analysis. Rev. mex. neurocienc. 2020; 21(6):228-234. DOI: https://doi.org/10.24875/RMN.20000099

Kwon GT, Kwon MS. Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob disease. BMJ Case Rep. 2019 24;12(9):e230535. doi: 10.1136/bcr-2019-230535. DOI: https://doi.org/10.1136/bcr-2019-230535

Shi Q, Zhou W, Chen C, Zhang BY, Xiao K, Wang Y, et al. Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease. Prion. 2016 3;10(4):331-7. doi: 10.1080/19336896.2016.1190897. DOI: https://doi.org/10.1080/19336896.2016.1190897

Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A, Heinemann U, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009;132(Pt 10):2659-68. doi: 10.1093/brain/awp191. Epub 2009 Sep 22. Erratum in: Brain. 2012 Apr;135(Pt 4):1335. DOI: https://doi.org/10.1093/brain/awp191

Gambetti P, Kong Q, Zou W, Parchi P, Chen SG, Sporadic and familial CJD: classification and characterisation, Br. Med. Bull., 2003; 66 (1): 213–239, https://doi.org/10.1093/bmb/66.1.213. DOI: https://doi.org/10.1093/bmb/66.1.213

Kim MO, Takada LT, Wong K, Forner SA, Geschwind MD. Genetic PrP Prion Diseases. Cold Spring Harb Perspect Biol. 2018 1;10(5):a033134. doi: 10.1101/cshperspect.a033134. DOI: https://doi.org/10.1101/cshperspect.a033134

Dai Y, Lang Y, Ding M, Zhang B, Han X, Duan G, et al. Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report. Prion. 2019; 13(1):132-136. doi: 10.1080/19336896.2019.1631679. DOI: https://doi.org/10.1080/19336896.2019.1631679

Sánchez-Soblechero, A. Ros-Lozano, A. Gómez-Roldós, A. Montoya-Aguirre, G. Massot-Tarrus, A. E200K familial Creutzfeldt-Jakob disease. MRI, EEG, PET and neuropathological correlation in a family. Neurología. 2021 36; 388-401. DOI: https://doi.org/10.1016/j.nrl.2020.07.016



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, 28(4). https://doi.org/10.31157/an.v28i4.466



Case report

Most read articles by the same author(s)