medigraphic.com
Instituto Nacional de Neurología y Neurocirugía

2023, Número 4

<< Anterior Siguiente >>

Arch Neurocien 2023; 28 (4)


Familial Creutzfeld-Jakob disease, compatible with PRNP c.532G>A (p.Asp178Asn) gene mutation

Sánchez-Escobedo Y, López-Zapata MR, López-Valdés JC, Sánchez-Mata R, Mestre-Orozco L, García-González U

Idioma: Ingles.
Referencias bibliográficas: 12
Paginas: 17-21
Archivo PDF: 440.45 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Pelayo-Salazar ME, Salazar-Castillo OA, de la Torre-RendónFE, Mestre-Orozco L,López-Valdés JC. Rapidly progressiveencephalopathy with evidence of spongiform encephalopathythrough biopsy, J. Taibah Univ Med Sci. 2022;17(6):1047-50.doi: 10.1016/j.jtumed.2022.05.009

  2. Liao YC, Lebo RV, Clawson GA, Smuckler EA. Human prionprotein cDNA: molecular cloning, chromosomal mapping, andbiological implications. Science. 1986;233(4761):364-7. doi:10.1126/science.3014653

  3. 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):228-34. doi: 10.24875/rmn.20000099

  4. Kwon GT, Kwon MS. Diagnostic challenge of rapidlyprogressing sporadic Creutzfeldt-Jakob disease. BMJ Case Rep.2019;12(9):e230535. doi: 10.1136/bcr-2019-230535

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

  6. Zerr I, Kallenberg K, Summers DM, Romero C, Taratuto A,Heinemann U, et al. Updated clinical diagnostic criteria forsporadic Creutzfeldt-Jakob disease. Brain. 2009; 132(Pt10):2659-68. doi: 10.1093/brain/awp191

  7. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG. Sporadic andfamilial CJD: classification and characterization. Br Med Bull.2003;66(1):213-39. doi: 10.1093/bmb/66.1.213

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

  9. 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):132-6. doi: 10.1080/19336896.2019.1631679

  10. 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(5):399-401. doi: 10.1016/j.nrl.2020.07.016

  11. Álvarez Bravo G. Creutzfeldt-Jakob disease as a novel cause of wing beating tremor. JAMA Neurol. 2021; 78(2):249-50. doi: 10.1001/jamaneurol.2020.3899

  12. ClinVar [Internet]. Bethesda: National Library of Medicine. NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) AND Genetic prion disease[cited 2023 May 15]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/RCV000020248.1/




2020     |     www.medigraphic.com