Enfermedad de Huntington: una aproximación desde la investigación
datacite.rights | http://purl.org/coar/access_right/c_abf2 | eng |
dc.contributor.author | Sánchez-Rojas, Manuel | |
dc.contributor.author | Puentes Rozo, Pedro | |
dc.contributor.author | Pineda, David A. | |
dc.contributor.author | Acosta-López, Johan | |
dc.contributor.author | Mejía-Segura, Elsy | |
dc.contributor.author | Cervantes-Henríquez, Martha | |
dc.contributor.author | Martínez-Banfi, Martha | |
dc.contributor.author | Ahmad, Mostapha | |
dc.contributor.author | Rosa Ríos Anillo, Margarita | |
dc.contributor.author | Pineda-Alhucema, Wilmar | |
dc.contributor.author | Noguera-Machacón, Luz M. | |
dc.contributor.author | De la Hoz, Moisés | |
dc.contributor.author | Jiménez-Figueroa, Giomar | |
dc.contributor.author | Escudero-Cabarcas, Johana | |
dc.contributor.author | Arcos-Burgos, Mauricio | |
dc.contributor.author | Vélez, Jorge I. | |
dc.contributor.author | Montoya Grajeda, José | |
dc.contributor.author | Rodríguez Gómez, Odette | |
dc.contributor.author | Ruvalcaba Medina, Anareli | |
dc.contributor.author | Hernández Panduro, Carlos | |
dc.contributor.author | De la Luz Escalante, Horacio | |
dc.contributor.author | Ordeñana Xicotencatl, Letty | |
dc.contributor.author | Carmona Rúa, Geraldine | |
dc.contributor.author | Vergara Ortega, Katiana | |
dc.contributor.author | Muñoz, Yulieth | |
dc.contributor.author | Chacón, Tatiana | |
dc.contributor.author | España Roa, Siria | |
dc.contributor.author | Sánchez-Barrios, Cristian | |
dc.date.accessioned | 2023-02-08T13:30:10Z | |
dc.date.available | 2023-02-08T13:30:10Z | |
dc.date.issued | 2021 | |
dc.description.abstract | La Enfermedad de Huntington es una enfermedad huérfana, con sintomatología descrita en su etapa clínica, pero con manifestaciones psiquiátricas en etapa prodrómica aun no formalmente caracterizadas. Objetivo: Identificar los principales trastornos mentales en pacientes en la etapa prodrómica de la Enfermedad de Huntington, así como los instrumentos utilizados para la captación de estos síntomas. Materiales y Métodos: Se realizó la revisión de acuerdo con la declaración PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). La búsqueda se realizó en las bases de datos de Medline, Scopus, Medscape y en el portal web del estudio PREDICT-HD. Se usaron MeSH (Medical Subject Headings) y términos comunes para formular las estrategias de búsqueda. Resultados: De 159 estudios revisados, 4 fueron incluidos por la descripción de los instrumentos, los cuales fueron realizados en The University of Iowa, USA, pertenecientes al estudio PREDICT-HD (estudio observacional longitudinal diseñado para identificar marcadores neurobiológicos antes del inicio de la sintomatología motora de la EH); Se encontraron que la fatiga o baja energía está más relacionada con la alteración de la capacidad funcional, que la depresión en pacientes pre-HD; adicionalmente, los síntomas depresivos e historia de intento de suicidio se identificaron como factores de riesgo elevado en pacientes más cercanos al diagnóstico motor, de la misma manera la inconciencia incrementa en la progresión de HD durante el estado prodrómico en estos grupos. Conclusiones: Actualmente no existe un instrumento validado que contenga una amplia sensibilidad y especificidad a nivel mundial para captar manifestaciones psiquiátricas en la etapa presintomática de la enfermedad y que esta patología a pesar de tener una gran sintomatología descrita en su etapa clínica no presenta formalmente caracterizadas manifestaciones psiquiátricas en la etapa pre-HD. | spa |
dc.format.mimetype | spa | |
dc.identifier.isbn | 9786287533059 (versión digital) | |
dc.identifier.isbn | 9786287533042 (versión impresa) | |
dc.identifier.uri | https://hdl.handle.net/20.500.12442/11816 | |
dc.language.iso | spa | spa |
dc.publisher | Ediciones Universidad Simón Bolívar | spa |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | eng |
dc.rights.accessrights | info:eu-repo/semantics/openAccess | eng |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.subject | Enfermedad de Huntington | spa |
dc.subject | Enfermedades genéticas | spa |
dc.title | Enfermedad de Huntington: una aproximación desde la investigación | spa |
dc.type.driver | info:eu-repo/semantics/book | eng |
dc.type.spa | Libro | spa |
dcterms.references | Adams, J. L., Dinesh, K., Xiong, M., Tarolli, C. G., Sharma, S., Sheth, N., Aranyosi, A. J., Zhu, W., Goldenthal, S., Biglan, K. M., Dorsey, E. R. & Sharma, G. (2017). Multiple Wearable Sensors in Parkinson and Huntington Disease Individuals: A Pilot Study in Clinic and at Home. Digital Biomarkers, 52-63. https://doi.org/10.1159/000479018. | eng |
dcterms.references | Aguirre, A., Vicario, A., Mazón, L. I., Estomba, A., Martínez De Pancorbo, M., Arrieta Picó, V., Perez Elortondo, F., & Lostao, C. M. (1991). Are the Basques a single and a unique population? American Journal of Human Genetics, 49(2), 450-458. | eng |
dcterms.references | Al-Eitan, L. N., Rababa’h, D. M., Hakooz, N. M., Alghamdi, M. A., & Dajani, R. B. (2020). Genetic polymorphisms of pharmacogenes among the genetically isolated circassian subpopulation from jordan. Journal of Personalized Medicine, 10(1). https://doi. org/10.3390/jpm10010002 | eng |
dcterms.references | Alonso, S., Flores, C., Cabrera, V., Alonso, A., Martín, P., Albarrán, C., Izagirre, N., de la Rúa, C., & García, O. (2005). The place of the Basques in the European Y-chromosome diversity landscape. European Journal of Human Genetics, 13(12), 1293-1302. https:// doi.org/10.1038/sj.ejhg.5201482 | eng |
dcterms.references | Arango-Lasprilla, J. C., Iglesias-Dorado, J., & Lopera, F. (2003). Características clínicas y neuropsicológicas de la Enfermedad de Huntington: Una revisiónrevision. Revista de Neurologia, 37(8), 758-765. https://doi.org/10.33588/rn.3708.2003010 | spa |
dcterms.references | Arcos-Burgos, M., & Muenke, M. (2002). Genetics of population isolates. Clinical Genetics, 61(4), 233-247. https://doi.org/10.1034/ j.1399-0004.2002.610401.x | eng |
dcterms.references | Atkinson, A. J., Colburn, W. A., DeGruttola, V. G., DeMets, D. L., Downing, G. J., Hoth, D. F., Oates, J. A., Peck, C. C., Schooley, R. T., Spilker, B. A., Woodcock, J., & Zeger, S. L. (2001). Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework. Clinical Pharmacology and Therapeutics, 69(3), 89-95. https://doi.org/10.1067/mcp.2001.113989 | eng |
dcterms.references | Atwal, R. S., Xia, J., Pinchev, D., Taylor, J., Epand, R. M., & Truant, R. (2007). Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity. Human Molecular Genetics, 16(21), 2600-2615. https://doi. org/10.1093/hmg/ddm217 | eng |
dcterms.references | Baeta, M., Nunez, C., Cardoso, S., Palencia-Madrid, L., Pineiro- Hermida, S., Arriba-Barredo, M., Villanueva-Millan, M. J., & De Pancorbo, M. M. (2015). Different Evolutionary History for Basque Diaspora Populations in USA and Argentina Unveiled by Mitochondrial DNA Analysis. PLoS ONE, 10(12), 1-13. https://doi. org/10.1371/journal.pone.0144919 | eng |
dcterms.references | Bamshad, M., & Wooding, S. P. (2003). Signatures of natural selection in the human genome. Nature Reviews Genetics, 4(2), 99-110. https://doi.org/10.1038/nrg999 | eng |
dcterms.references | Bates, G. P., Dorsey, R., Gusella, J. F., Hayden, M. R., Kay, C., Leavitt, B. R., Nance, M., Ross, C. A., Scahill, R. I., Wetzel, R., Wild, E. J., & Tabrizi, S. J. (2015). Huntington disease. Nature Reviews Disease Primers, 1(1), 15005. https://doi.org/10.1038/nrdp.2015.5 | eng |
dcterms.references | Bauduer, F. (2008). [History of biological anthropology of the Basque population: empiricism with molecular genetics]. Histoire des sciences medicales, 42(2), 123-130. | eng |
dcterms.references | Bauduer, F., Feingold, J., & Lacombe, D. (2005). The Basques: review of population genetics and Mendelian disorders. Human Biology, 77(5), 619-637. https://doi.org/10.1353/hub.2006.0001 | eng |
dcterms.references | Blanco-Barrios, J. A. (1983). Antecedentes estadísticos de la Expedición Botánica: el censo del departamento del Atlántico (partido de Tierradentro) en el año 1777. Revista Colombiana de Estadística, 4(8), 1-30. | spa |
dcterms.references | Blumenstock, S., & Dudanova, I. (2020). Cortical and Striatal Circuits in Huntington’s Disease. Frontiers in Neuroscience, 14 (February). https://doi.org/10.3389/fnins.2020.00082 | eng |
dcterms.references | Bourgain, C., & Génin, E. (2005). Complex trait mapping in isolated populations: Are specific statistical methods required? European Journal of Human Genetics, 13(6), 698-706. https://doi. org/10.1038/sj.ejhg.5201400 | eng |
dcterms.references | Braisch, U., Muche, R., Rothenbacher, D., Landwehrmeyer, G. B., Long, J. D., & Orth, M. (2019). Identification of symbol digit modality test score extremes in Huntington’s disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 180(3), 232-245. https://doi.org/10.1002/ajmg.b.32719 | eng |
dcterms.references | Brandt, J., Shpritz, B., Munro, C. A., Marsh, L., & Rosenblatt, A. (2005). Differential impairment of spatial location memory in Huntington’s disease. Journal of Neurology, Neurosurgery and Psychiatry, 76(11), 1516-1519. https://doi.org/10.1136/jnnp.2004.059253 | eng |
dcterms.references | Burgess, N., Maguire, E. A., & O’Keefe, J. (2002). The human hippocampus and spatial and episodic memory. Neuron, 35(4), 625-641. | eng |
dcterms.references | Burrell, A. S., & Disotell, T. R. (2009). Panmixia postponed: Ancestryrelated assortative mating in contemporary human populations. Genome Biology, 10(11). https://doi.org/10.1186/gb-2009-10- 11-245 | eng |
dcterms.references | Butte, A. J. (2008). Medicine. The ultimate model organism. Science (New York, N.Y.), 320(5874), 325-327. https://doi.org/10.1126/ science.1158343 | eng |
dcterms.references | Calafell, F., & Bertranpetit, J. (1994a). Principal component analysis of gene frequencies and the origin of Basques. American Journal of Physical Anthropology, 93(2), 201-215. https://doi.org/10.1002/ ajpa.1330930205 | eng |
dcterms.references | Calafell, F., & Bertranpetit, J. (1994b). Mountains and genes: population history of the Pyrenees. Human Biology, 66(5), 823-842. | eng |
dcterms.references | Caron, N. S., Wright, G. E. B., Hayden, M. R., & Frcp, C. (2019). Huntington Disease Summary Suggestive Findings. 1–34. | eng |
dcterms.references | Castilla, E. E., & Adams, J. (1996). Genealogical information and the structure of rural Latin-American populations: reality and fantasy. Human Heredity, 46(5), 241-255. https://doi. org/10.1159/000154361 | eng |
dcterms.references | Cuevas-Guarnizo, A. (2014). La enfermedad rara más común en Juan de Acosta. El Espectador. | spa |
dcterms.references | DANE. (2019). Resultados Censo Nacional de Población y Vivienda 2018 Sogamoso, Tunja, Boyacá. 27 | spa |
dcterms.references | Daza J., Carbonell, C., Brokate A., & Caiaffa H. (1996). Caracterización de las secuencias polimórficas de tripletas CAG y CCG del gen de la Enfermedad de Huntington en familias colombianas. Acta Neurologica Colombiana, 12., 70-75. | spa |
dcterms.references | Daza, J., Carbonell, C., & B. A. (1995). Correlación clínico-molecular y caracterización de la Enfermedad de Huntington en familias de Juan de Acosta y otras regiones colombianas. 4., 300-321. | spa |
dcterms.references | De Castro, M., & Restrepo, C. M. (2015). Genetics and genomic medicine in Colombia. Mol Genet Genomic Med, 3(2), 84-91. https://doi.org/10.1002/mgg3.139 | eng |
dcterms.references | Departamento Administrativo Nacional de Estadistica (DANE). (2007). Colombia una Nación Multicultural. Colombia Una Nación Multicultural, Su Diversidad Étnica, 1-45. | spa |
dcterms.references | Duff, K., Paulsen, J. S., Beglinger, L. J., Langbehn, D. R., & Stout, J. C. (2007). Psychiatric Symptoms in Huntington’s Disease before Diagnosis: The Predict- HD Study. Biological Psychiatry, 62(12), 1341–1346. https://doi.org/10.1016/j.biopsych.2006.11.034 | eng |
dcterms.references | Etcheverry, M. A. (1945). El factor rhesus su genética e importancia clínica. El Día medico, 17, 1237–1251. | eng |
dcterms.references | Fielding, J., Georgiou-Karistianis, N., Millist, L., & White, O. (2006). Temporal variation in the control of goal-directed visuospatial attention in basal ganglia disorders. Neuroscience Research, 54(1), 57-65. | eng |
dcterms.references | Finke, K., Bublak, P., Dose, M., Müller, H. J., & Schneider, W. X. (2006). | eng |
dcterms.references | Franco-Giraldo, Á. (2012). La última reforma del sistema general de seguridad social en salud colombiano. Revista de Salud Pública, 14, 865-877. | spa |
dcterms.references | FUNPEHUJAC. (2004). Fundación por Pacientes con la Enfermedad de Huntington en Juan de Acosta. Unpublishe, [Proposal for the first conference for Colombian’s. | spa |
dcterms.references | Gauvin, H., Lefebvre, J. F., Moreau, C., Lavoie, E. M., Labuda, D., Vézina, H., & Roy-Gagnon, M. H. (2015). GENLIB: An R. package for the analysis of genealogical data. BMC Bioinformatics, 16(1), 1-10. https://doi.org/10.1186/s12859-015-0581-5 | eng |
dcterms.references | Gerovska, D., Irizar, H., Otaegi, D., Ferrer, I., López de Munain, A., & Araúzo- Bravo, M. J. (2020). Genealogy of the neurodegenerative diseases based on a meta-analysis of age-stratified incidence data. Scientific Reports, 10(1), 18923. https://doi.org/10.1038/ s41598-020-75014-8 | eng |
dcterms.references | Gorrochategui, J. (2002). Planteamientos de la lingüística histórica en la datación del Euskara. | spa |
dcterms.references | Guo, Q., Huang, B., Cheng, J., Seefelder, M., Engler, T., Pfeifer, G., Oeckl, P., Otto, M., Moser, F., Maurer, M., Pautsch, A., Baumeister, W., Fernández- Busnadiego, R., & Kochanek, S. (2018). The cryo-electron microscopy structure of huntingtin. Nature, 555(7694), 117–120. https://doi.org/10.1038/nature25502 | eng |
dcterms.references | Ha, A. D., & Fung, V. S. C. (2012). Huntington’s disease. Current Opinion in Neurology, 25(4), 491-498. https://doi.org/10.1097/ WCO.0b013e3283550c97 | eng |
dcterms.references | Harris, K. L., Armstrong, M., Swain, R., Erzinclioglu, S., Das, T., Burgess, N., Barker, R. A., & Mason, S. L. (2019). Huntington’s disease patients display progressive deficits in hippocampal-dependent cognition during a task of spatial memory. Cortex; a Journal Devoted to the Study of the Nervous System and Behavior, 119, 417-427. https://doi.org/10.1016/j.cortex.2019.07.014 | eng |
dcterms.references | Heindel, W. C., Butters, N., & Salmon, D. P. (1988). Impaired learning of a motor skill in patients with Huntington’s disease. Behavioral Neuroscience, 102(1), 141-147. https://doi.org/10.1037//0735- 7044.102.1.141 | eng |
dcterms.references | Heutink, P. & Oostra, B. A. (2002). Gene finding in genetically isolated populations. Human Molecular Genetics, 11(20), 2507-2515. https://doi.org/10.1093/hmg/11.20.2507 | eng |
dcterms.references | Huntington, G. (2003). On chorea. George Huntington, M.D. The Journal of Neuropsychiatry and Clinical Neurosciences, 15(1), 109-112. https://doi.org/10.1176/jnp.15.1.109 | eng |
dcterms.references | Iriondo, M., Barbero, M. C., & Manzano, C. (2003). DNA polymorphisms detect ancient barriers to gene flow in Basques. American Journal of Physical Anthropology, 122(1), 73-84. https://doi. org/10.1002/ajpa.10212 | eng |
dcterms.references | Jankovic, J., & Squitieri, F. (2017). Letter re: Huntington disease reduced penetrance alleles occur at high frequency in the general population. Neurology, 88(3), 334. https://doi.org/10.1212/ WNL.0000000000003527 | eng |
dcterms.references | Jensen, R. N., Bolwig, T., & Sørensen, S. A. (2018). [Psychiatric symptoms in patients with Huntington’s disease]. Ugeskrift for laeger, 180(13). | eng |
dcterms.references | Jorde, L B, Watkins, W. S., Kere, J., Nyman, D., & Eriksson, A. W. (2000). Gene mapping in isolated populations: new roles for old friends? Human Heredity, 50(1), 57-65. https://doi.org/10.1159/000022891 | eng |
dcterms.references | Jorde, Lynn B, & Wooding, S. P. (2004). Genetic variation, classification and {\textquoteleft}race{\textquoteright}. Nature Genetics, 36(11), 1-6. https://doi.org/10.1034/ng1435 | eng |
dcterms.references | Kandt, J., & Longley, P. A. (2018). Ethnicity estimation using family naming practices. PLOS ONE, 13(8), e0201774. https://doi. org/10.1371/journal.pone.0201774 | eng |
dcterms.references | Kay, C., Hayden, M. R., & Leavitt, B. R. (2017). Epidemiology of Huntington disease. Handbook of Clinical Neurology, 144, 31-46. https://doi.org/10.1016/B978-0-12-801893-4.00003-1 | eng |
dcterms.references | Kristiansson, K., Naukkarinen, J., & Peltonen, L. (2008). Isolated populations and complex disease gene identification. Genome Biology, 9(8), 1-9. https://doi.org/10.1186/gb-2008-9-8-109 | eng |
dcterms.references | Laayouni, H., Calafell, F., & Bertranpetit, J. (2010). A genome-wide survey does not show the genetic distinctiveness of Basques. Human Genetics, 127(4), 455-458. https://doi.org/10.1007/ s00439-010-0798-3 | eng |
dcterms.references | Lane, R. M., Smith, A., Baumann, T., Gleichmann, M., Norris, D., Bennett, C. F., & Kordasiewicz, H. (2018). Translating antisense technology into a treatment for Huntington’s disease. Methods in Molecular Biology, 1780, 497-523. https://doi.org/10.1007/978- 1-4939-7825-0_23 | eng |
dcterms.references | Langbehn, D. R., & Paulsen, J. S. (2007). Predictors of diagnosis in Huntington disease. 40068. | eng |
dcterms.references | Larmuseau, M. H. D., Ottoni, C., Raeymaekers, J. A. M., Vanderheyden, N., Larmuseau, H. F. M., & Decorte, R. (2012). Temporal differentiation across a West-European Y-chromosomal cline: Genealogy as a tool in human population genetics. European Journal of Human Genetics, 20(4), 434-440. https://doi.org/10.1038/ ejhg.2011.218 | eng |
dcterms.references | Liascovich, R., Rittler, M., & Castilla, E. E. (2001). Consanguinity in South America: demographic aspects. Human Heredity, 51(1–2), 27-34. https://doi.org/10.1159/000022956 | eng |
dcterms.references | Linares Gómez Andrea. (2009). Por causa de gen maligno, un pueblo debe evitar reproducirse. ESPECIAL DE EL TIEMPO. | eng |
dcterms.references | Lo, J., Reyes, A., Pulverenti, T. S., Rankin, T. J., Bartlett, D. M., Zaenker, P., Rowe, G., Feindel, K., Poudel, G., Georgiou-Karistianis, N., Ziman, M. R., & Cruickshank, T. M. (2020). Dual tasking impairments are associated with striatal pathology in Huntington’s disease. Annals of Clinical and Translational Neurology, 7(9), 1608-1619. https://doi.org/10.1002/acn3.51142 | eng |
dcterms.references | Lopera, F., Ardilla, A., Martínez, A., Madrigal, L., Arango-Viana, J. C., Lemere, C. A., Arango-Lasprilla, J. C., Hincapíe, L., Arcos-Burgos, M., Ossa, J. E., Behrens, I. M., Norton, J., Lendon, C., Goate, A. M., Ruiz-Linares, A., Rosselli, M., & Kosik, K. S. (1997). Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA, 277(10), 793-799. | eng |
dcterms.references | MacDonald, M. E., Ambrose, C. M., Duyao, M. P., Myers, R. H., Lin, C., Srinidhi, L., Barnes, G., Taylor, S. A., James, M., Groot, N., MacFarlane, H., Jenkins, B., Anderson, M. A., Wexler, N. S., Gusella, J. F., Bates, G. P., Baxendale, S., Hummerich, H., Kirby, S., … Harper, P. S. (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell, 72(6), 971-983. https://doi.org/10.1016/0092- 8674(93)90585-E | spa |
dcterms.references | Maestre, R., Bermúdez, A., Ching, R., Mejía, G., Malambo, D., & Gómez, D. (2010). Diagnóstico molecular de la Enfermedad de Huntington en el departamento del Atlántico, Colombia (2009). Iatreia, 23(4-S SE- Resúmenes). https://revistas.udea.edu.co/ index.php/iatreia/article/view/8160 | spa |
dcterms.references | Mestre, T. A., Forjaz, M. J., Mahlknecht, P., Cardoso, F., Ferreira, J. J., Reilmann, R., Sampaio, C., Goetz, C. G., Cubo, E., Martinez Martin, P., & Stebbins, G. T. (2018). Rating Scales for Motor Symptoms and Signs in Huntington’s Disease: Critique and Recommendations. Movement Disorders Clinical Practice, 5(2), 111–117. https://doi. org/10.1002/mdc3.12571 | eng |
dcterms.references | Ministerio de Salud y Protección. (2010). Ley 1392 de 2010. 2010, 1. Ministerio de Salud y Protección. Ley 1392 de 2010. 2010 [Internet]. 2010;6. Available from: https://www.minsalud.gov.co/sites/rid/ Lists/BibliotecaDigital/RIDE/DE/DIJ/ley- 1392-de-2010.pdf, 6. | eng |
dcterms.references | Misnaza Castrillón, S. P., & Armenta-Restrepo, A. (2017). Índice modificado de esfuerzo en cuidadores informales de personas con Enfermedad de Huntington en los municipios de Algarrobo, Ariguaní y San Ángel. Magdalena, Colombia. Rev. Med. Risaralda, 3-7 | spa |
dcterms.references | Myers, R. H. (2004). Huntington’s disease genetics. NeuroRx: The Journal of the American Society for Experimental NeuroTherapeutics, 1(2), 255-262. https://doi.org/10.1602/ neurorx.1.2.255 | eng |
dcterms.references | Nanetti, L., Contarino, V. E., Castaldo, A., Sarro, L., Bachoud-Levi, A.-C., Giavazzi, M., Frittoli, S., Ciammola, A., Rizzo, E., Gellera, C., Bruzzone, M. G., Taroni, F., Grisoli, M., & Mariotti, C. (2018). Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease. | eng |
dcterms.references | Naze, S., Humble, J., Zheng, P., Barton, S., Rangel-Barajas, C., Rebec, G. V., & Kozloski, J. R. (2018). Cortico-striatal cross-frequency coupling and gamma genesis disruptions in huntington’s disease mouse and computational models. ENeuro, 5(6). https:// doi.org/10.1523/ENEURO.0210-18.2018 | eng |
dcterms.references | Newman, D. L., Abney, M., McPeek, M. S., Ober, C., & Cox, N. J. (2001). The Importance of Genealogy in Determining Genetic Associations with Complex Traits. The American Journal of Human Genetics, 69(5), 1146-1148. https://doi.org/10.1086/323659 | eng |
dcterms.references | O’Brien, E., Jorde, L. B., Rönnlöf, B., Fellman, J. O., & Eriksson, A. W. (1988). Inbreeding and genetic disease in Sottunga, Finland. American Journal of Physical Anthropology, 75(4), 477-486. https://doi.org/10.1002/ajpa.1330750405 | eng |
dcterms.references | OECD. (2017). Digital technology: Making better use of health data. | eng |
dcterms.references | Olson, S., Berg, K., Bonham, V., Boyer, J., Brody, L., Brooks, L., Collins, F., Guttmacher, A., McEwen, J., Muenke, M., Olson, S., Wang, V. O., Rodriguez, L. L., Vydelingum, N., & Warshauer-Baker, E. (2005). The use of racial, ethnic, and ancestral categories in human genetics research. American Journal of Human Genetics, 77(4), 519-532. https://doi.org/10.1086/491747 | eng |
dcterms.references | Paisan-Ruiz, C., Jain, S., Evans, E. W., Gilks, W. P., Simón, J., van der Brug, M., López de Munain, A., Aparicio, S., Gil, A. M., Khan, N., Johnson, J., Martinez, J. R., Nicholl, D., Martí Carrera, I., Pena, A. S., de Silva, R., Lees, A., Martí- Massó, J. F., Pérez-Tur, J., … Singleton, A. B. (2004). Cloning of the gene containing mutations that cause PARK8-linked Parkinson’s disease. Neuron, 44(4), 595-600. https://doi.org/10.1016/j.neuron.2004.10.023 | eng |
dcterms.references | Palidwor, G. A., Shcherbinin, S., Huska, M. R., Rasko, T., Stelzl, U., Arumughan, A., Foulle, R., Porras, P., Sanchez-Pulido, L., Wanker, E. E., & Andrade- Navarro, M. A. (2009). Detection of alpha-rod protein repeats using a neural network and application to huntingtin. PLoS Computational Biology, 5(3). https://doi.org/10.1371/journal. pcbi.1000304 | eng |
dcterms.references | Parameter-based assessment of spatial and non-spatial attentional deficits in Huntington’s disease. Brain: A Journal of Neurology, 129(Pt 5), 1137-1151. https://doi.org/10.1093/brain/awl040 | eng |
dcterms.references | Parkinsonism & Related Disorders, 51, 17–23. https://doi. org/10.1016/j.parkreldis.2018.02.033 | eng |
dcterms.references | Paulsen, J. S., Langbehn, D. R., Stout, J. C., Aylward, E., Ross, C. A., Nance, M., Guttman, M., Johnson, S., MacDonald, M., Beglinger, L. J., Duff, K., Kayson, E., Biglan, K., Shoulson, I., Oakes, D., & Hayden, M. (2008). Detection of Huntington’s disease decades before diagnosis: The Predict-HD study. Journal of Neurology, Neurosurgery and Psychiatry, 79(8), 874-880. https://doi. org/10.1136/jnnp.2007.128728 | eng |
dcterms.references | Paulsen, Jane S. (2006). Preparing for Preventive Clinical Trials. Archives of Neurology, 63(6), 883. https://doi.org/10.1001/ archneur.63.6.883 | eng |
dcterms.references | Paulsen, Jane S., Long, J. D., Johnson, H. J., Aylward, E. H., Ross, C. A., Williams, J. K., Nance, M. A., Erwin, C. J., Westervelt, H. J., Harrington, D. L., Bockholt, H. J., Zhang, Y., McCusker, E. A., Chiu, E. M., Panegyres, P. K., Cross, S., Ryan, P., Epping, E. A., Preston, J., … Dubinsky, R. (2014). Clinical and biomarker changes in premanifest Huntington disease show trial feasibility: A decade of the PREDICT-HD study. Frontiers in Aging Neuroscience, 6(APR), 1-11. https://doi.org/10.3389/fnagi.2014.00078 | eng |
dcterms.references | Paulsen, Jane S., Zimbelman, J. L., Hinton, S. C., Langbehn, D. R., Leveroni, C. L., Benjamin, M. L., Reynolds, N. C., & Rao, S. M. (2004). fMRI biomarker of early neuronal dysfunction in presymptomatic Huntington’s disease. American Journal of Neuroradiology, 25(10), 1715-1721. | eng |
dcterms.references | Payne, P. R., Embi, P. J., & Sen, C. K. (2009). Translational informatics: enabling high-throughput research paradigms. Physiol Genomics, 39(3), 131-140. https://doi.org/10.1152/physiolgenomics. 00050.2009 | eng |
dcterms.references | Payne, P. R., Johnson, S. B., Starren, J. B., Tilson, H. H., & Dowdy, D. (2005). Breaking the translational barriers: the value of integrating biomedical informatics and translational research. J Investig Med, 53(4), 192–200. https://doi.org/10.2310/6650.2005.00402 | eng |
dcterms.references | Peng, C., Zhu, G., Liu, X., & Li, H. (2018). Mutant Huntingtin Causes a Selective Decrease in the Expression of Synaptic Vesicle Protein 2C. Neuroscience Bulletin, 34(5), 747-758. https://doi.org/10.1007/ s12264-018-0230-x | eng |
dcterms.references | Phillips, W., Shannon, K. M., & Barker, R. A. (2008). The current clinical management of Huntington’s disease. Movement Disorders: Official Journal of the Movement Disorder Society, 23(11), 1491-1504. https://doi.org/10.1002/mds.21971 | eng |
dcterms.references | Pierzynowska, K., Gaffke, L., Cyske, Z., & Węgrzyn, G. (2019). Genistein induces degradation of mutant huntingtin in fibroblasts from Huntington’s disease patients. Metabolic Brain Disease, 34(3), 715-720. https://doi.org/10.1007/s11011-019-00405-4 | eng |
dcterms.references | Pirogovsky, E., Nicoll, D. R., Challener, D. M., Breen, E., Gluhm, S., Corey−Bloom, J., & Gilbert, P. E. (2015). The Visual Spatial Learning Test: Differential impairment during the premanifest and manifest stages of Huntington’s disease. Journal of Neuropsychology, 9(1), 77-86. | eng |
dcterms.references | Pringsheim, T., Wiltshire, K., Day, L., Dykeman, J., Steeves, T., & Jette, N. (2012). The incidence and prevalence of Huntington’s disease: a systematic review and meta-analysis. Movement Disorders: Official Journal of the Movement Disorder Society, 27(9), 1083-1091. https://doi.org/10.1002/mds.25075 | eng |
dcterms.references | Purcell, N. L., Goldman, J. G., Ouyang, B., Bernard, B., & O’Keefe, J. A. (2019). The Effects of Dual-Task Cognitive Interference and Environmental Challenges on Balance in Huntington’s Disease. Movement Disorders Clinical Practice, 6(3), 202-212. https://doi. org/10.1002/mdc3.12720 | eng |
dcterms.references | Rangel-Barajas, C., & Rebec, G. V. (2018). Overview of Huntington’s Disease Models: Neuropathological, Molecular, and Behavioral Differences. Current Protocols in Neuroscience, 83(1), e47. https:// doi.org/10.1002/cpns.47 | eng |
dcterms.references | Rawlins, M. D., Wexler, N. S., Wexler, A. R., Tabrizi, S. J., Douglas, I., Evans, S. J. W., & Smeeth, L. (2016). The Prevalence of Huntington’s Disease. Neuroepidemiology, 46(2), 144-153. https://doi. org/10.1159/000443738 | eng |
dcterms.references | Risch, N., Choudhry, S., Via, M., Basu, A., Sebro, R., Eng, C., Beckman, K., Thyne, S., Chapela, R., Rodriguez-Santana, J. R., Rodriguez- Cintron, W., Avila, P. C., Ziv, E., & Gonzalez Burchard, E. (2009). Ancestry-related assortative mating in Latino populations. Genome Biology, 10(11). https://doi.org/10.1186/gb-2009- 10-11-r132 | eng |
dcterms.references | Rudan, I., Rudan, D., Campbell, H., Carothers, A., Wright, A., Smolej- Narancic, N., Janicijevic, B., Jin, L., Chakraborty, R., Deka, R., & Rudan, P. (2003). Inbreeding and risk of late onset complex disease. Journal of Medical Genetics, 40(12), 925-932. https:// doi.org/10.1136/jmg.40.12.925 | eng |
dcterms.references | Saloum de Neves Manta, F., Pereira, R., Vianna, R., Rodolfo Beuttenmüller de Araújo, A., Leite Góes Gitaí, D., Aparecida da Silva, D., de Vargas Wolfgramm, E., da Mota Pontes, I., Ivan Aguiar, J., Ozório Moraes, M., Fagundes de Carvalho, E., & Gusmão, L. (2013). Revisiting the Genetic Ancestry of Brazilians Using Autosomal AIM-Indels. PLoS ONE, 8(9), 1–11. https://doi. org/10.1371/journal.pone.0075145 | eng |
dcterms.references | Salzano, F. M., & Sans, M. (2014). Interethnic admixture and the evolution of Latin American populations. Genetics and Molecular Biology, 37(1 SUPPL. 1), 151-170. https://doi.org/10.1590/S1415- 47572014000200003 | eng |
dcterms.references | Sans, M., Figueiro, G., Ackermann, E., Barreto, I., Egaña, A., Bertoni, B., Poittevin- Gilmet, E., Maytia, D., & Hidalgo, P. C. (2011). Mitochondrial DNA in Basque descendants from the city of Trinidad, Uruguay: Uruguayan- or Basque-like population? Human Biology, 83(1), 55-70. https://doi.org/10.3378/027.083.0104 | eng |
dcterms.references | Sarkar, I. N. (2010). Biomedical informatics and translational medicine. J Transl Med, 8, 22. https://doi.org/10.1186/1479-5876-8-22 | eng |
dcterms.references | Say, M. J., Jones, R., Scahill, R. I., Dumas, E. M., Coleman, A., Santos, R. C. D., Justo, D., Campbell, J. C., Queller, S., Shores, E. A., Tabrizi, S. J., & Stout, J. C. (2011). Visuomotor integration deficits precede clinical onset in Huntington’s disease. Neuropsychologia, 49(2), 264-270. https://doi.org/10.1016/j.neuropsychologia.2010.11.016 | eng |
dcterms.references | Seong, I. S., Woda, J. M., Song, J. J., Lloret, A., Abeyrathne, P. D., Woo, C. J., Gregory, G., Lee, J. M., Wheeler, V. C., Walz, T., Kingston, R. E., Gusella, J. F., Conlon, R. A., & MacDonald, M. E. (2009). Huntingtin facilitates polycomb repressive complex 2. Human Molecular Genetics, 19(4), 573-583. https://doi.org/10.1093/hmg/ddp524 | eng |
dcterms.references | Sharifabad, D., Lau, A. L., Stevens, B., Reidling, J. C., Winokur, S. T., Casale, M. S., Leslie, M., Pardo, M., Díaz-barriga, A. G. G., Straccia, M., Sanders, P., Alberch, J., Josep, M., Kaye, J. A., Dunlap, M., Jo, L., May, H., Mount, E., Anderson-bergman, C., … Svendsen, C. N. (2017). Developmental alterations in Huntington’s disease neural cells and pharmacological rescue in cells and mice. Nature Neuroscience, 20(5), 648-660. https://doi.org/10.1038/nn.4532. Developmental | eng |
dcterms.references | Simón-Sánchez, J., Martí-Massó, J.-F., Sánchez-Mut, J. V., Paisán-Ruiz, C., Martínez-Gil, A., Ruiz-Martínez, J., Sáenz, A., Singleton, A. B., López de Munain, A., & Pérez-Tur, J. (2006). Parkinson’s disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Movement Disorders : Official Journal of the Movement Disorder Society, 21(11), 1954-1959. https://doi.org/10.1002/ mds.21114 | eng |
dcterms.references | Snowden, J. S. (2017). The Neuropsychology of Huntington’s Disease. Archives of Clinical Neuropsychology, 32(7), 876-887. https://doi. org/10.1093/arclin/acx086 | eng |
dcterms.references | Steffan, J. S., Agrawal, N., Pallos, J., Rockabrand, E., Trotman, L. C., Slepko, N., Illes, K., Lukacsovich, T., Zhu, Y. Z., Cattaneo, E., Pandolfi, P. P., Thompson, L. M., & Marsh, J. L. (2004). SUMO Modification of Huntingtin and Huntington’s Disease Pathology. Science, 304(5667), 100-104. https://doi.org/10.1126/science.1092194 | eng |
dcterms.references | Takano, H., & Gusella, J. F. (2002). The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF- kB/Rel/dorsal family transcription factor. BMC Neuroscience, 3, 1-13. https://doi.org/10.1186/1471-2202- 3-15 | eng |
dcterms.references | Taoufik, E., Kouroupi, G., Zygogianni, O., & Matsas, R. (2018). Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: An overview of induced pluripotent stem-cell-based disease models. Open Biology, 8(9). https://doi.org/10.1098/ rsob.180138 | eng |
dcterms.references | Tartari, M., Gissi, C., Lo Sardo, V., Zuccato, C., Picardi, E., Pesole, G., & Cattaneo, E. (2008). Phylogenetic comparison of huntingtin homologues reveals the appearance of a primitive polyQ in sea urchin. Molecular Biology and Evolution, 25(2), 330-338. https:// doi.org/10.1093/molbev/msm258 | eng |
dcterms.references | Testa, C. M., & Jankovic, J. (2019). Huntington disease: a quarter century of progress since the gene discovery. Journal of the Neurological Sciences, 396, 52-68. | eng |
dcterms.references | Thompson, L. M., Aiken, C. T., Kaltenbach, L. S., Agrawal, N., Illes, K., Khoshnan, A., Martinez-Vincente, M., Arrasate, M., O’Rourke, J. G., Khashwji, H., Lukacsovich, T., Zhu, Y. Z., Lau, A. L., Massey, A., Hayden, M. R., Zeitlin, S. O., Finkbeiner, S., Green, K. N., LaFerla, F. M., … Steffan, J. S. (2009). IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome. Journal of Cell Biology, 187(7), 1083-1099. https://doi.org/10.1083/ jcb.200909067 | eng |
dcterms.references | Tishkoff, S. A., & Kidd, K. K. (2004). Implications of biogeography of human populations for “race” and medicine. Nature Genetics, 36(11 Suppl), S21-7. https://doi.org/10.1038/ng1438 | eng |
dcterms.references | Vaportzis, E., Georgiou-Karistianis, N., Churchyard, A., & Stout, J. C. (2015). Dual task performance in Huntington’s disease: A comparison of choice reaction time tasks. Neuropsychology, 29(5), 703-712. https://doi.org/10.1037/neu0000172 | eng |
dcterms.references | Xia, J., Lee, D. H., Taylor, J., Vandelft, M., & Truant, R. (2003). Huntingtin contains a highly conserved nuclear export signal. Human Molecular Genetics, 12(12), 1393-1403. https://doi.org/10.1093/ hmg/ddg156 | eng |
dcterms.references | Zaitlen, N., Kraft, P., Patterson, N., Pasaniuc, B., Bhatia, G., Pollack, S., & Price, A. L. (2013). Using Extended Genealogy to Estimate Components of Heritability for 23 Quantitative and Dichotomous Traits. PLoS Genetics, 9(5). https://doi.org/10.1371/journal. pgen.1003520 | eng |
dcterms.references | Zivelin, A., Bauduer, F., Ducout, L., Peretz, H., Rosenberg, N., Yatuv, R., & Seligsohn, U. (2002). Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood, 99(7), 2448-2454. https://doi.org/10.1182/ blood.V99.7.2448 | eng |
dcterms.references | Zuccato C, Ciammola A, Rigamonti D., Leavitt BR, Goffredo D., Conti L., MacDonald ME, Friedlander RM, Silani V. Hayden MR., Timmusk T., Sipione S., Cattaneo, E. (2001). Pérdida de la transcripción del gen BDNF mediada por la huntingtina en la Enfermedad de Huntington. Science. 2001, 293 (5529), 493-498. | eng |
oaire.version | info:eu-repo/semantics/publishedVersion | eng |
Archivos
Bloque original
1 - 5 de 10
Cargando...
- Nombre:
- PDF.pdf
- Tamaño:
- 1.69 MB
- Formato:
- Adobe Portable Document Format
- Descripción:
Cargando...
- Nombre:
- Cap1 _Historia de la enfermedad de Huntington.pdf
- Tamaño:
- 440.28 KB
- Formato:
- Adobe Portable Document Format
- Descripción:
Cargando...
- Nombre:
- Cap2_Componente motor y cuestionario funcional de la UHDRS.pdf
- Tamaño:
- 99.13 KB
- Formato:
- Adobe Portable Document Format
- Descripción:
Cargando...
- Nombre:
- Cap3_Marcadores motores en etapa prodómica de la enfermedad de Huntington.pdf
- Tamaño:
- 105.09 KB
- Formato:
- Adobe Portable Document Format
- Descripción:
Cargando...
- Nombre:
- Cap4_ Biomarcadores en fluidos en la enfermedad de Huntington. Una revisión bibliográfica.pdf
- Tamaño:
- 75.23 KB
- Formato:
- Adobe Portable Document Format
- Descripción:
Bloque de licencias
1 - 1 de 1
No hay miniatura disponible
- Nombre:
- license.txt
- Tamaño:
- 2.93 KB
- Formato:
- Item-specific license agreed upon to submission
- Descripción: