Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas
La presente tesis ofrece un análisis exhaustivo de la Enfermedad de Huntington (EH) en Juan de Acosta, Colombia, abordando cuatro componentes clave: neuropsicológico, genético, neuroanatómico e histórico. El componente histórico abordó el "Efecto Fundador" de la EH en Juan de Acosta, explo...
- Autores:
-
Ahmad, Mostapha
- Tipo de recurso:
- Fecha de publicación:
- 2024
- Institución:
- Universidad Simón Bolívar
- Repositorio:
- Repositorio Digital USB
- Idioma:
- spa
- OAI Identifier:
- oai:bonga.unisimon.edu.co:20.500.12442/14533
- Acceso en línea:
- https://hdl.handle.net/20.500.12442/14533
- Palabra clave:
- Premotores EH
Habilidades visoconstructivas
Inhibición
Marcadores tempranos
Enfermedad de Huntington
HTT
Repeticiones CAG
Mosaicismo
Deslizamiento
EH premanifiesta
Biomarcadores
Cambios volumétricos cerebrales
Dilatación ventricular
Efecto Fundador
Ascendencia vasca
Migración colonial
Datos genealógicos
Prevalencia diferencial
Premanifest HD dilation
Visuospatial skills
Early markers
Huntington's disease
CAG repeats
Mosaicism
Slippage
Premanifest HD
Biomarkers
Brain volumetric changes
Ventricular dilation
Founder Effect
Basque ancestry
Colonial migration
Genealogical data
Differential prevalence
- Rights
- restrictedAccess
- License
- http://purl.org/coar/access_right/c_16ec
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Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas |
| title |
Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas |
| spellingShingle |
Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas Premotores EH Habilidades visoconstructivas Inhibición Marcadores tempranos Enfermedad de Huntington HTT Repeticiones CAG Mosaicismo Deslizamiento EH premanifiesta Biomarcadores Cambios volumétricos cerebrales Dilatación ventricular Efecto Fundador Ascendencia vasca Migración colonial Datos genealógicos Prevalencia diferencial Premanifest HD dilation Visuospatial skills Early markers Huntington's disease CAG repeats Mosaicism Slippage Premanifest HD Biomarkers Brain volumetric changes Ventricular dilation Founder Effect Basque ancestry Colonial migration Genealogical data Differential prevalence |
| title_short |
Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas |
| title_full |
Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas |
| title_fullStr |
Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas |
| title_full_unstemmed |
Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas |
| title_sort |
Exploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicas |
| dc.creator.fl_str_mv |
Ahmad, Mostapha |
| dc.contributor.advisor.none.fl_str_mv |
Acosta, Johan |
| dc.contributor.author.none.fl_str_mv |
Ahmad, Mostapha |
| dc.subject.spa.fl_str_mv |
Premotores EH Habilidades visoconstructivas Inhibición Marcadores tempranos Enfermedad de Huntington HTT Repeticiones CAG Mosaicismo Deslizamiento EH premanifiesta Biomarcadores Cambios volumétricos cerebrales Dilatación ventricular Efecto Fundador Ascendencia vasca Migración colonial Datos genealógicos Prevalencia diferencial |
| topic |
Premotores EH Habilidades visoconstructivas Inhibición Marcadores tempranos Enfermedad de Huntington HTT Repeticiones CAG Mosaicismo Deslizamiento EH premanifiesta Biomarcadores Cambios volumétricos cerebrales Dilatación ventricular Efecto Fundador Ascendencia vasca Migración colonial Datos genealógicos Prevalencia diferencial Premanifest HD dilation Visuospatial skills Early markers Huntington's disease CAG repeats Mosaicism Slippage Premanifest HD Biomarkers Brain volumetric changes Ventricular dilation Founder Effect Basque ancestry Colonial migration Genealogical data Differential prevalence |
| dc.subject.eng.fl_str_mv |
Premanifest HD dilation Visuospatial skills Early markers Huntington's disease CAG repeats Mosaicism Slippage Premanifest HD Biomarkers Brain volumetric changes Ventricular dilation Founder Effect Basque ancestry Colonial migration Genealogical data Differential prevalence |
| description |
La presente tesis ofrece un análisis exhaustivo de la Enfermedad de Huntington (EH) en Juan de Acosta, Colombia, abordando cuatro componentes clave: neuropsicológico, genético, neuroanatómico e histórico. El componente histórico abordó el "Efecto Fundador" de la EH en Juan de Acosta, explorando la ascendencia vasca, la migración durante la colonización española y la conexión entre datos genealógicos y la prevalencia de EH. Se resaltó la relevancia de la subestructura interna en la población vasca y la existencia de mutaciones fundacionales. Desde la perspectiva neuropsicológica, se identificaron marcadores tempranos en la EH mediante pruebas específicas, como la copia de la figura del rey y la prueba Stroop. Individuos en fase premotora mostraron alteraciones significativas en habilidades visoconstructivas e inhibición cognitiva, sugiriendo su potencial como marcadores tempranos de disfunción neurocognitiva. En el componente genético, se realizó el análisis genómico de 291 individuos reveló repeticiones CAG en el gen huntingtina (HTT), destacando los alelos 17/7 y 17/10 como los más comunes y evidenciando un aumento de mosaicismo con la edad. La investigación neuroanatómica se centró en alteraciones volumétricas cerebrales en individuos premanifiestos, identificando cambios significativos, como la disminución del volumen del parénquima cerebral en la penetrancia completa y hallazgos sorprendentes en el grupo intermedio. La dilatación ventricular emergió como un indicador potencial de la progresión global de la enfermedad. En conjunto, esta tesis proporciona una visión completa de la EH en Juan de Acosta, integrando aspectos neuropsicológicos, genéticos, neuroanatómicos e históricos. Estos hallazgos no solo enriquecen la comprensión de la enfermedad, sino que también tienen implicaciones cruciales para la detección temprana, intervenciones preventivas y gestión clínica en esta población. |
| publishDate |
2024 |
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2024-04-25T13:35:41Z |
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2024-04-25T13:35:41Z |
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2024 |
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http://purl.org/coar/resource_type/c_db06 |
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info:eu-repo/semantics/doctoralThesis |
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Tesis de doctorado |
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https://hdl.handle.net/20.500.12442/14533 |
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https://hdl.handle.net/20.500.12442/14533 |
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Ediciones Universidad Simón Bolívar |
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Facultad de Ciencias Básicas y Biomédicas |
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Ediciones Universidad Simón Bolívar |
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Acosta, JohanAhmad, Mostaphae2a2bc14-8863-46f5-a6fc-6020fca57918-12024-04-25T13:35:41Z2024-04-25T13:35:41Z2024https://hdl.handle.net/20.500.12442/14533La presente tesis ofrece un análisis exhaustivo de la Enfermedad de Huntington (EH) en Juan de Acosta, Colombia, abordando cuatro componentes clave: neuropsicológico, genético, neuroanatómico e histórico. El componente histórico abordó el "Efecto Fundador" de la EH en Juan de Acosta, explorando la ascendencia vasca, la migración durante la colonización española y la conexión entre datos genealógicos y la prevalencia de EH. Se resaltó la relevancia de la subestructura interna en la población vasca y la existencia de mutaciones fundacionales. Desde la perspectiva neuropsicológica, se identificaron marcadores tempranos en la EH mediante pruebas específicas, como la copia de la figura del rey y la prueba Stroop. Individuos en fase premotora mostraron alteraciones significativas en habilidades visoconstructivas e inhibición cognitiva, sugiriendo su potencial como marcadores tempranos de disfunción neurocognitiva. En el componente genético, se realizó el análisis genómico de 291 individuos reveló repeticiones CAG en el gen huntingtina (HTT), destacando los alelos 17/7 y 17/10 como los más comunes y evidenciando un aumento de mosaicismo con la edad. La investigación neuroanatómica se centró en alteraciones volumétricas cerebrales en individuos premanifiestos, identificando cambios significativos, como la disminución del volumen del parénquima cerebral en la penetrancia completa y hallazgos sorprendentes en el grupo intermedio. La dilatación ventricular emergió como un indicador potencial de la progresión global de la enfermedad. En conjunto, esta tesis proporciona una visión completa de la EH en Juan de Acosta, integrando aspectos neuropsicológicos, genéticos, neuroanatómicos e históricos. Estos hallazgos no solo enriquecen la comprensión de la enfermedad, sino que también tienen implicaciones cruciales para la detección temprana, intervenciones preventivas y gestión clínica en esta población.This thesis presents a comprehensive analysis of Huntington's Disease (HD) in Juan de Acosta, Colombia, addressing four key components: neuropsychological, genetic, neuroanatomical, and historical. The historical component delved into the "Founder Effect" of HD in Juan de Acosta, exploring Basque ancestry, migration during Spanish colonization, and the connection between genealogical data and HD prevalence. The relevance of internal substructure in the Basque population and the existence of founder mutations were emphasized. From a neuropsychological perspective, early markers in HD were identified through specific tests such as the King's figure copy and the Stroop test. Individuals in the premanifest phase showed significant alterations in visuospatial skills and cognitive inhibition, suggesting their potential as early markers of neurocognitive dysfunction. In the genetic component, genomic analysis of 291 individuals revealed CAG repeats in the huntingtin gene (HTT), highlighting the 17/7 and 17/10 alleles as the most common and showing an increase in mosaicism with age. Neuroanatomical research focused on brain volumetric alterations in premanifest individuals, identifying significant changes such as decreased cerebral parenchymal volume in complete penetrance and surprising findings in the intermediate group. Ventricular dilation emerged as a potential indicator of overall disease progression. Overall, this thesis provides a comprehensive view of HD in Juan de Acosta, integrating neuropsychological, genetic, neuroanatomical, and historical aspects. These findings not only enrich the understanding of the disease but also have crucial implications for early detection, preventive interventions, and clinical management in this population.pdfspaEdiciones Universidad Simón BolívarFacultad de Ciencias Básicas y BiomédicasPremotores EHHabilidades visoconstructivasInhibiciónMarcadores tempranosEnfermedad de HuntingtonHTTRepeticiones CAGMosaicismoDeslizamientoEH premanifiestaBiomarcadoresCambios volumétricos cerebralesDilatación ventricularEfecto FundadorAscendencia vascaMigración colonialDatos genealógicosPrevalencia diferencialPremanifest HD dilationVisuospatial skillsEarly markersHuntington's diseaseCAG repeatsMosaicismSlippagePremanifest HDBiomarkersBrain volumetric changesVentricular dilationFounder EffectBasque ancestryColonial migrationGenealogical dataDifferential prevalenceExploración integral de la enfermedad de Huntington en Juan de Acosta, Colombia: perspectivas históricas, neuropsicológicas, genéticas y neuroanatómicasinfo:eu-repo/semantics/restrictedAccesshttp://purl.org/coar/access_right/c_16ecinfo:eu-repo/semantics/doctoralThesisTesis de doctoradohttp://purl.org/coar/resource_type/c_db06A worldwide study of the HD mutation. (1994)Abeyasinghe, P. M., Long, J. D., Razi, A., Pustina, D., Paulsen, J. S., Tabrizi, S. J., Poudel, G. R., & Georgiou-Karistianis, N. (2021). Tracking Huntingtonʼs Disease Progression Using Motor, Functional, Cognitive, and Imaging Markers. Movement Disorders, 36(10), 2282–2292. https://doi.org/10.1002/mds.28650Agostinho, L. D. A., Rocha, C. F., Medina-Acosta, E., Barboza, H. N., Da Silva, A. F. A., Pereira, S. P. F., Da Silva, I. D. S., Paradela, E. R., Figueiredo, A. L. D. S., Nogueira, E. D. M., Alvarenga, R. M. P., Hernan Cabello, P., Dos Santos, S. R., & Paiva, C. L. A. (2012). Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease. Journal of Human Genetics, 57(12), 796–803. https://doi.org/10.1038/jhg.2012.120Aguirre, 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.Ahmad, M., Ríos-Anillo, M. R., Acosta-López, J. E., Cervantes-Henríquez, M. L., Martínez-Banfi, M., Pineda-Alhucema, W., Puentes-Rozo, P., Sánchez-Barros, C., Pinzón, A., Patel, H. R., Vélez, J. I., Villarreal-Camacho, J. L., Pineda, D. A., ArcosBurgos, M., & Sánchez-Rojas, M. (2023). Uncovering the Genetic and Molecular Features of Huntington’s Disease in Northern Colombia. International Journal of Molecular Sciences, 24(22). https://doi.org/10.3390/ijms242216154Al-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/jpm10010002Alonso, 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 Ychromosome diversity landscape. European Journal of Human Genetics, 13(12), 1293–1302. https://doi.org/10.1038/sj.ejhg.5201482Amedi, A., Jacobson, G., Hendler, T., Malach, R., & Zohary, E. (2002). Convergence of visual and tactile shape processing in the human lateral occipital complex. Cerebral Cortex, 12(11), 1202–1212.Apolinário, T. A., da Silva, I. dos S., Agostinho, L. de A., & Paiva, C. L. A. (2020). Investigation of intermediate CAG alleles of the HTT in the general population of Rio de Janeiro, Brazil, in comparison with a sample of Huntington disease-affected families. Molecular Genetics and Genomic Medicine, 8(4), 1–8. https://doi.org/10.1002/mgg3.1181Arcos-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.xAstafiev, S. V, Stanley, C. M., Shulman, G. L., & Corbetta, M. (2004). Extrastriate body area in human occipital cortex responds to the performance of motor actions. Nature Neuroscience, 7(5), 542–548.Aylward, E. H., Anderson, N. B., Bylsma, F. W., Wagster, M. V, Barta, P. E., Sherr, M., Feeney, J., Davis, A., Rosenblatt, A., Pearlson, G. D., & Ross, C. A. (1998). Frontal lobe volume in patients with Huntington’s disease. Neurology, 50(1), 252–258. https://doi.org/10.1212/wnl.50.1.252Baeta, M., Nunez, C., Cardoso, S., Palencia-Madrid, L., Pineiro-Hermida, S., ArribaBarredo, 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.0144919Baizer, J. S., Desimone, R., & Ungerleider, L. G. (1993). Comparison of subcortical connections of inferior temporal and posterior parietal cortex in monkeys. Visual Neuroscience, 10(1), 59–72.Bamshad, M., & Wooding, S. P. (2003). Signatures of natural selection in the human genome. 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Applied and Environmantal Microbiology, 82(19), 5878–5891. https://doi.org/10.1128/AEM.01630-16.EditorBraisch, 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.32719Brand, A., Bradley, M. T., Best, L. A., & Stoica, G. (2008). Accuracy of effect size estimates from published psychological research. Percept Mot Skills, 106(2), 645–649. https://doi.org/10.2466/pms.106.2.645-649Brandt, 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.2004.059253Burgess, N., Maguire, E. A., & O’Keefe, J. (2002). The human hippocampus and spatial and episodic memory. Neuron, 35(4), 625–641.Burrell, A. S., & Disotell, T. R. (2009). Panmixia postponed: Ancestry-related assortative mating in contemporary human populations. Genome Biology, 10(11). https://doi.org/10.1186/gb-2009-10-11-245Burton, A. (2013). Hope, humanity, and Huntington’s disease in Latin America. The Lancet Neurology, 12(2), 133–134. https://doi.org/10.1016/S1474-4422(13)70006-1Calafell, F., & Bertranpetit, J. (1994a). Mountains and genes: population history of the Pyrenees. Human Biology, 66(5), 823–842Calafell, F., & Bertranpetit, J. (1994b). 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.1330930205Carella, F., Bressanelli, M., Piacentini, S., Soliveri, P., Geminiani, G., Monza, D., Albanese, A., & Girotti, F. (2003). A study of arm movements in Huntington’s disease under visually controlled and blindfolded conditions. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 23(6), 287–293. https://doi.org/10.1007/s100720300003Carlozzi, N. E., Stout, J. C., Mills, J. A., Duff, K., Beglinger, L. J., Aylward, E. H., Whitlock, K. B., Solomon, A. C., Queller, S., Langbehn, D. R., Johnson, S. A., & Paulsen, J. S. (2011). Estimating premorbid IQ in the prodromal phase of a neurodegenerative disease. The Clinical Neuropsychologist, 25(5), 757–777. https://doi.org/10.1080/13854046.2011.577811Casella, C., Lipp, I., Rosser, A., Jones, D. K., & Metzler-Baddeley, C. (2020). A Critical Review of White Matter Changes in Huntington’s Disease. Movement Disorders : Official Journal of the Movement Disorder Society, 35(8), 1302–1311. https://doi.org/10.1002/mds.28109Castilla, E. E., & Adams, J. (1996). Genealogical information and the structure of rural Latin-American populations: reality and fantasy. 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