2013, Número S1
<< Anterior Siguiente >>
Correo Científico Médico 2013; 17 (S1)
Actualización en enfermedad de Huntington
Rodríguez PJM, Díaz RYV, Rojas RY, Rodríguez BY, Núñez AE
Idioma: Español
Referencias bibliográficas: 34
Paginas: 546-557
Archivo PDF: 271.20 Kb.
RESUMEN
La enfermedad de Huntington es un trastorno neurodegenerativo trasmitido con rasgo autosómico dominante. La pérdida neuronal selectiva en el estriado produce corea y deterioro cognitivo. Se trata de una enfermedad progresiva que comienza en la mitad de la vida adulta, evoluciona de manera crónica durante muchos años y para la que no existe en la actualidad un tratamiento curativo. Se realizó una revisión general del estado actual de conocimiento de la enfermedad de Huntington, se incluyeron aspectos etiopatogénicos, clínicos, de metodología diagnóstica y opciones terapéuticas.
REFERENCIAS (EN ESTE ARTÍCULO)
Fahn S, Jankovic J. Huntington disease. En: Principles and practice of movement disorders. Philadelphia: Editorial Churchil livingstone Elsevier; 2007.p.369-85.
Wild EJ, Tabrizi SJ. The differential diagnosis of Chorea. Practical Neurol. 2007; 7:360-373.
Arbor A, De Jong RN. George Huntington (1850-1916). En: The Founders of Neurology. 2ª ed. Illinois: Ed. Springfield Charles C Thomas Pub; 1970.p. 453-6.
Walker FO. Huntington’s disease. Lancet. 2007; 369: 218-28.
Vázquez Sánchez F, Rodríguez Martínez E, Arés Luque A. Actualización en coreas. Rev Neurol. 2009;48: 11-16.
Biglan KM, Shoulson I. Huntington’s disease. En: Hallett M, Poewe W. Therapeutics of Parkinson’s Disease and Other Movement Disorders. Chicester: Editorial John Wiley & Sons; 2008.p.295–315.
Velázquez Pérez L, Rodríguez Labrada R. Características generales de las enfermedades poliglutamínicas. En: Manifestaciones tempranas de la Ataxia espinocerebelosa tipo 2. Holguín: Ediciones Holguín; 2012.p.11-32.
Huntington's disease Collaborative Research Group. A novel gen containg a trinucleotide repeats that is expanded and instable on Huntington's disease chromosoma.Cel.1993; 72:971-83.
Azzarelli A. Enfermedad de Huntington y degeneraciones de algunos núcleos subcorticales. En: Neuropatología, diagnóstico y clínica. Barcelona: Editorial Edisma; 2000.p. 603-20.
Landles C, Bates G. Huntingtin and the molecular pathogenesis of Huntington disease. EMBO. 2004;5:958-963.
Kremer B, Almqvist E, Theilmann J. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet.1995; 57:343–350.
Wexler NS, Lorimer J, Porter J. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington’s disease age of onset. Proc Natl Acad Sci. 2004;101: 3498–3503.
Brocklebank D, Gayan J, Andresen JM. Repeat instability in the 27–39 CAG range of the HD gene in the Venezuelan kindreds: counseling implications. Am J Med Genet B Neuropsychiatr Genet.2009;150:425–429.
Rosales Reynoso MA, Barros Núñez P. Biología molecular y Medicina. Diagnóstico molecular de la enfermedad de Huntington. Gac Méd Méx. 2008; 144(3):271-3.
Potter NT, Spector EB, Prior TW. Technical standars and guidelines for Huntington disease testing. Genet Med. 2004; 6:61-65.
Ravina B, Romer M, Constantinescu R. The relationship between CAG repeat length and clinical progression in Huntington’s disease. Mov Disord. 2008; 23:1223–1227.
Ross RA, Vegtervan der Vlis M, Hermans J, Elshove HM, Moll AC, Van de Kamp JJ, et al. Age at onset in Huntington's disease: effect on line of inherintance and patient's sex. Nat Genet.1993; 28:515-9.
Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP. Neuropathological classification of Huntington’s disease. J Neuropathol Exp Neurol. 1985; 44:559–577.
Vonsttel JP, Keller C, Del Pilar Amaya M. Neuropathology of Huntington’s disease. En: Vinken PJ, Bruyn GW. Handbook of Clinical Neurology. Amsterdam: Editorial Elsevier; 2008.p. 599–618.
Aucoin JS, Jiang P, Aznavour N. Selective cholinergic denervation, independent from oxidative stress, in a mouse model of Alzheimer’s disease. Neuroscience. 2005; 132:73–86.
Penney JB, Young AB. Striatal inhomogeneities and basal gan-glia function. Mov Disord. 1986;1:3–15.
Albin RL, Qin Y, Young AB, Penney JB, Chesselet MF. Preproenkephalin messenger RNA-containing neurons in striatum of patientswith symptomatic and presymptomatic Huntington’s disease: an in situ hybridization study. Ann Neurol.1991; 30:542–549.
Albin RL, Reiner A, Anderson KD. Preferential loss of striato-external pallidal projection neurons in presymptomatic Huntington’s disease. Ann Neurol. 1992;31:425–430.
Jankovic J. Movement Disorders. En: Bradley WG, Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC. Bradley’s Neurology in Clinical Practice. Philadelphia: Editorial Elsevier Saunders; 2012.p. 1762-1801.
Ropper AH, Samuels A. Degenerative Diseases of the Nervous System En: Adams & Victors' Principles of Neurology. 9 ed. Philadelphia: Ed. McGraw-Hill; 2009.p.895-954.
Tibben A, Duivenvoorden HJ, Vegter-van der Vlis M. Presymptomatic DNA testing for Huntington disease: identifying the need for psychological intervention. Am J Med Genet. 1993; 48:137–144.
Wild EJ, Mudanohwo EE, Sweeney MG, Schneider SA, Beck J, Bhatia KP, et al. Huntington’s disease phenocopies are clinically and genetically heterogeneous. Mov Disord. 2008; 23: 716-20.
Hersch SM, Rosas HD. Neuroprotection for Huntington’s disease: ready, set, slow. Neurotherapeutics. 2008;5: 226-36.
Mestre T, Ferreira J, Coelho MM, Rosa M, Sampaio C. Therapeutic interventions for disease progression in Huntington’s disease. Cochrane Database Syst. 2009[citado 25 jun 2013]; 8(3)
Huntington Study Group. Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trial. Neurol. 2006; 66:366–372.
Adam OR, Jankovic J. Symptomatic treatment of Huntington disease. Neurotherapeutics. 2008; 5: 181-97.
Hyson HC, Kieburtz K, Shoulson I. Safety and tolerability of high-dosage coenzyme Q10 in Huntington’s disease and healthy subjects. Mov Disord. 2010;25:1924–1928.
Shoulson I, Young AB. Milestones in Huntington Disease. Mov Disord. 2011; 26(6):1127-1133.
Discapnet. (sede web). Enfermedad de Huntington. España: Fundación ONCE; 2009 [27 jun 2013].