Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and met...
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2012
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| 008 | 190411s2012 xx ||||fo|||| 00| 0 eng|d | ||
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| 024 | 7 | |2 cas |a amantadine, 665-66-7, 768-94-5; olanzapine, 132539-06-1; ubidecarenone, 303-98-0 | |
| 040 | |a Scopus |b spa |c AR-BaUEN |d AR-BaUEN | ||
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| 100 | 1 | |a Gatto, E. | |
| 245 | 1 | 0 | |a Clinical and genetic characteristics in patients with Huntington's Disease from Argentina |
| 260 | |c 2012 | ||
| 270 | 1 | 0 | |m Gatto, E.; Department of Movement Disorders, Instituto Neurociencias de Buenos Aires (INEBA), Sanatorio de la Trinidad Mitre, Juramento 1155 3A, CP 1428, Buenos Aires, Argentina; email: emiliagatto@fibertel.com.ar |
| 506 | |2 openaire |e Política editorial | ||
| 504 | |a Ross, C.A., Tabrizi, S.J., Huntington's disease: from molecular pathogenesis to clinical treatment (2011) Lancet Neurol, 10 (1), pp. 83-98. , Jan | ||
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| 504 | |a Renna, M., Jimenez-Sanchez, M., Sarkar, S., Rubinsztein, D.C., Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases (2010) JBiol Chem, 285, pp. 11061-11067 | ||
| 504 | |a Roze, E., Saudou, F., Caboche, J., Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments (2008) Curr Opin Neurol, 21, pp. 497-503 | ||
| 504 | |a Johnson, C.D., Davidson, B.L., Huntington's disease: progress toward effective disease-modifying treatments and a cure (2010) Hum Mol Genet, 19 (REVIEW ISSUE 1), pp. R98-R102 | ||
| 504 | |a Ross, C.A., Shoulson, I., Huntington disease: pathogenesis, biomarkers, and approaches to experimental therapeutics (2009) Parkinsonism Relat Disord, 15 (S3), pp. S135-S138 | ||
| 504 | |a Paradisi, I., Hernández, A., Arias, S., Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation (2008) JHum Genet, 53, pp. 127-135 | ||
| 504 | |a Wexler, N.S., Lorimer, J., Porter, J., Gomez, F., Moskowitz, C., Shackell, E., U.S.-Venezuela Collaborative Research Project (2004) Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset (2004) Proc Natl Acad Sci, 101, pp. 3498-3503 | ||
| 504 | |a Gusella, J.F., MacDonald, M.E., Huntington's disease: the case for genetic modifiers (2009) Genome Med, 1, p. 80 | ||
| 504 | |a Aziz, N.A., Jurgens, C.K., Landwehrmeyer, G.B., van Roon-Mom, W.M.C., van Ommen, G.J.B., Stijnen, T., Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease (2009) Neurology, 73, pp. 1280-1285 | ||
| 504 | |a Nørremølle, A., Budtz-Jørgensen, E., Fenger, K., Nielsen, J.E., Sørensen, S.A., Hasholt, L., 4p16.3 haplotype modifying age at onset of Huntington disease (2009) Clin Genet, 75, pp. 244-250 | ||
| 504 | |a Harper, P.S., The epidemiology of Huntington's disease (1992) Hum Genet, 89, pp. 365-376 | ||
| 504 | |a Andrew, S.E., Hayden, M.R., Origins and evolution of Huntington disease chromosomes (1995) Neurodegeneration, 4, pp. 239-244 | ||
| 504 | |a Warby, S.C., Visscher, H., Collins, J.A., Doty, C.N., Carter, C., Butland, S.L., HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia (2011) Eur J Hum Genet, 19, pp. 561-566 | ||
| 504 | |a Chang, C.M., Yu, Y.L., Fong, K.Y., Wong, M.T., Chan, Y.W., Ng, T.H., Huntington's disease in Hong Kong Chinese: epidemiology and clinical picture (1994) Clin Exp Neurol, 31, pp. 43-51 | ||
| 504 | |a Nakashima, K., Watanabe, Y., Kusumi, M., Nanba, E., Maeoka, Y., Nakagawa, M., Epidemiological and genetic studies of Huntington's disease in the San-in area of Japan (1996) Neuroepidemiology, 15, pp. 126-131 | ||
| 504 | |a Hayden, M.R., MacGregor, J.M., Beighton, P.H., The prevalence of Huntington's chorea in South Africa (1980) SAfr Med J, 58, pp. 193-196 | ||
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| 504 | |a Cuba, J.M., Torres, L., Genealogic trees of families with Huntington's chorea in Cañete (Peru) (1989) Rev Neurol, 145, pp. 482-484 | ||
| 504 | |a Velez, M., Cosentino, C., Torres, L., Huntington disease in Perú (1998) Mov Disord, 13, p. 221 | ||
| 504 | |a Gatto, E., Micheli, F., Fernández, M., Casas Parera, I., Giannaula, R., Análisis de una serie clínica: corea de Huntington. Evaluación Clínica (1994) Rev Chil Neuro-Psiquiat, 32, pp. 127-128 | ||
| 504 | |a Falush, D., Haplotype background, repeat length evolution, and Huntington's disease (2009) Am J Hum Genet, 85, pp. 939-942 | ||
| 504 | |a Warby, S.C., Visscher, H., Butland, S., Pearson, C.E., Hayden, M.R., Response to Falush: a role for cis-element polymorphisms in HD (2009) Am J Hum Genet, 85, pp. 942-945 | ||
| 504 | |a Quiroga Micheo, E., Vilaseca, A.B., Bonder, M.C., Quiroga Vergara, E.R., Frecuencia de los grupos sanguíneos y análisis de la progresiva disminución del factor Rh negativo en la población Argentina (1988) Revista Medicina, 48, pp. 355-360 | ||
| 504 | |a Tabrizi, S.J., Langbehn, D.R., Leavitt, B.R., Durr, A., Roos, R.A., Leavitt, B.R., Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data (2009) Lancet Neurol, 89, pp. 791-801 | ||
| 504 | |a Paulsen, J.S., Langbehn, D.R., Stout, J.C., Aylward, E., Ross, C.A., Nance, M., Predict-HD investigators and coordinators of the Huntington Study Group. Detection of Huntington's disease decades before diagnosis: the Predict-HD study (2008) JNeurol Neurosurg Psychiatry, 79, pp. 874-880 | ||
| 504 | |a Paulsen, J.S., Wang, C., Duff, K., Barker, R., Nance, M., Beglinger, L., PREDICT-HD investigators of the Huntington Study Group. Challenges assessing clinical endpoints in early Huntington disease (2010) Mov Disord, 25, pp. 2595-2603 | ||
| 504 | |a Stout, J.C., Paulsen, J.S., Queller, S., Solomon, A.C., Whitlock, K.B., Campbell, J.C., Neurocognitive signs in prodromal Huntington disease (2011) Neuropsychology, 25, pp. 1-14 | ||
| 504 | |a Gagnon, K.T., HD therapeutics - CHDI fifth annual conference (2010) Drugs, 13, pp. 219-223 | ||
| 520 | 3 | |a Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnosed with a mean age of 45.7±16.2years and a mean age at onset of 35.8±14.8years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r=-0.58, r 2=33.6, Pearson's correlation coefficient p=0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations. © 2011 Elsevier Ltd. |l eng | |
| 593 | |a Department of Movement Disorders, Instituto Neurociencias de Buenos Aires (INEBA), Buenos Aires, Argentina | ||
| 593 | |a Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina | ||
| 593 | |a Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina | ||
| 593 | |a Laboratorio de Genética y Biología Molecular, Hospital de Clínicas José de San Martín, UBA, Buenos Aires, Argentina | ||
| 690 | 1 | 0 | |a CHOREA |
| 690 | 1 | 0 | |a DEMOGRAPHIC |
| 690 | 1 | 0 | |a FAMILIAL CHOREA |
| 690 | 1 | 0 | |a HUNTINGTON'S DISEASE |
| 690 | 1 | 0 | |a AMANTADINE |
| 690 | 1 | 0 | |a ANTIDEPRESSANT AGENT |
| 690 | 1 | 0 | |a OLANZAPINE |
| 690 | 1 | 0 | |a SEROTONIN UPTAKE INHIBITOR |
| 690 | 1 | 0 | |a UBIDECARENONE |
| 690 | 1 | 0 | |a ADOLESCENT |
| 690 | 1 | 0 | |a ADULT |
| 690 | 1 | 0 | |a AGED |
| 690 | 1 | 0 | |a ALLELE |
| 690 | 1 | 0 | |a ARTICLE |
| 690 | 1 | 0 | |a CAG REPEAT |
| 690 | 1 | 0 | |a CHILD |
| 690 | 1 | 0 | |a CONTROLLED STUDY |
| 690 | 1 | 0 | |a FEMALE |
| 690 | 1 | 0 | |a GENETIC ANALYSIS |
| 690 | 1 | 0 | |a HUMAN |
| 690 | 1 | 0 | |a HUNTINGTON CHOREA |
| 690 | 1 | 0 | |a HYPERKINESIA |
| 690 | 1 | 0 | |a INHERITANCE |
| 690 | 1 | 0 | |a INTERVIEW |
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| 690 | 1 | 0 | |a ADOLESCENT |
| 690 | 1 | 0 | |a ADULT |
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| 690 | 1 | 0 | |a CHILD |
| 690 | 1 | 0 | |a FEMALE |
| 690 | 1 | 0 | |a HUMANS |
| 690 | 1 | 0 | |a HUNTINGTON DISEASE |
| 690 | 1 | 0 | |a MALE |
| 690 | 1 | 0 | |a MIDDLE AGED |
| 690 | 1 | 0 | |a TRINUCLEOTIDE REPEATS |
| 690 | 1 | 0 | |a YOUNG ADULT |
| 651 | 4 | |a ARGENTINA | |
| 651 | 4 | |a ARGENTINA | |
| 700 | 1 | |a Parisi, V. | |
| 700 | 1 | |a Persi, G. | |
| 700 | 1 | |a Converso, D.P. | |
| 700 | 1 | |a Etcheverry, J.L. | |
| 700 | 1 | |a Varela, V. | |
| 700 | 1 | |a Alba, L. | |
| 700 | 1 | |a Fretchel, G. | |
| 773 | 0 | |d 2012 |g v. 18 |h pp. 166-169 |k n. 2 |p Parkinsonism Relat. Disord. |x 13538020 |t Parkinsonism and Related Disorders | |
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