Familial Creutzfeld-Jakob disease, compatible with PRNP c.532G>A (p.Asp178sn) gene mutation
DOI:
https://doi.org/10.31157/an.v28i4.466Keywords:
Prion disease, familial variant, Creutzfeld-Jakob, prionopathiesAbstract
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.
References
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
Additional Files
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
September 2022-present © Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. Open access articles under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. No commercial re-use is allowed.
January-September 2022 © The authors. Open access articles under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. No commercial re-use is allowed.
January 2014-December 2021 © Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. Open access articles under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
