RESUMO
My mother, Leonore, was diagnosed with Huntington's disease (HD) in 1968 at age 53. I was 23, my sister Alice 26, and our father, Milton Wexler, 60 years old. The same year, our father created the Hereditary Disease Foundation (HDF), dedicated to finding treatments and cures for HD. HD is an autosomal dominant, neurodegenerative disorder. Alice and I each have a 50% chance of inheriting and dying from the disorder. Over the past 43 years, we have been proud to change the face of science. Through Milton Wexler Interdisciplinary Workshops, judicious funding, and focusing on innovation and creativity, the HDF is an integral partner in key discoveries. The HDF recruited and supported >100 scientists worldwide who worked together as the Huntington's Disease Collaborative Research Group in a successful ten-year search for the HD gene. We found a DNA marker for the HD gene in 1983-the first marker to be found when the chromosomal location was unknown. We isolated the HD gene itself a decade later. These breakthroughs helped launch the Human Genome Project. We supported creating the first mouse model of HD and many other model systems. Currently, we focus on gene silencing, among other approaches, to create new treatments and cures.
Assuntos
Fundações/história , Genética/história , Doença de Huntington/história , Neurociências/história , Defesa do Paciente/história , Animais , Feminino , História do Século XX , História do Século XXI , Doença de Huntington/genética , Estados Unidos , VenezuelaRESUMO
The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.
Assuntos
Doença de Huntington/história , Neurologia/história , História do Século XX , História do Século XXI , Humanos , VenezuelaRESUMO
The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.
Os autores apresentam uma revisão histórica sobre a magistral contribuição clínica do Professor Américo Negrette, neurologista venezuelano, na evolução do conhecimento científico sobre a doença de Huntington.
Assuntos
História do Século XX , História do Século XXI , Humanos , Doença de Huntington/história , Neurologia/história , VenezuelaRESUMO
OBJECTIVE: To elucidate the role of Dr. Americo Negrette in diagnosing and reclassifying the dancing mania in Maracaibo, Venezuela as Huntington disease (HD). METHODS: All of the medical and nonmedical books and articles by Negrette were collected and reviewed. Personal interviews with Negrette were performed to confirm the details of his life and original work. His childhood, medical education, and contribution to HD, as well as contributions to medicine, art, and poetry, were covered in interview sessions. Excerpts from his autobiography, Ciudad de Fuego, were translated into English for publication. A complete bibliography of 70 books and research articles authored by Negrette was assembled. Negrette himself reviewed the compilation of this manuscript just days before his sudden death on September 14, 2003. RESULTS: Americo Negrette, a Venezuelan physician, biochemist, artist, and poet, observed a dancing epidemic in 1952. He acquired, through interviews with locals, the knowledge that there were two other small towns along Lake Maracaibo devastated by a syndrome called el mal (the bad). Negrette changed the diagnosis of these patients from a dancing mania to what he believed was Huntington chorea, later termed HD. He presented his findings at the Venezuelan Sixth Congress of Medical Science in 1955. He was met with reluctance in the local scientific community and a passive ear from government authorities. His description, written in Spanish, was not widely distributed beyond Venezuela, and its importance would have to wait until one of his students shared his observations (more than a decade later) with the HD research community and the rest of the world. CONCLUSION: The "dancing mania" of Maracaibo, because of the work of Americo Negrette, has been reclassified as Huntington disease.
Assuntos
Doença de Huntington/história , Neurologia/história , Atitude Frente a Saúde , Transtorno Bipolar/diagnóstico , Análise por Conglomerados , Dança , Diagnóstico Diferencial , Efeito Fundador , História do Século XX , História do Século XXI , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/epidemiologia , Doença de Huntington/psicologia , Fenótipo , Venezuela/epidemiologiaRESUMO
La palabra Corea se originó en la función del "coro" del teatro griego clásico, que incluía discurso, canto, música y danza. Dejó de usarse en la Edad Media y reapareció en el siglo XVII como calificativo de lo que "podría parecerse a un baile", en el sentido de ser un reiterado movimiento del cuerpo y miembros, en general grosero, contorsivo y saltarín, que se presentaba habitualmente en epidemias, que se conocen como de "manía danzante", seguramente histéricas. Si ocurría entonces algún caso de enfermedad Corea, como la que hoy conocemos, que hasta podría ser la desencadenante de la epidemia, quedaba sumergida en el conjunto y resultaba irreconocible. Del examen de la escasa iconografía de la época y de la música con que se pretendía curarla, no surge un patrón general que permita analizar los movimientos, para compararlos con la enfermedad Corea actual. Más aún, un análisis semiológico de varios casos actuales de Corea de Huntington no permite reconocerle condición de baile. Dada la época del apogeo de la popularidad de la Corea (o tarantismo) epidémicos, resulta probable que su calificación de baile y la pretensión de asignarle un correlato musical haya sido producto de la coyuntura cultural del barroco (AU)
Assuntos
Humanos , Coreia/história , Doença de Huntington/história , Doença de Huntington/fisiopatologia , Coreia/fisiopatologiaRESUMO
La palabra Corea se originó en la función del "coro" del teatro griego clásico, que incluía discurso, canto, música y danza. Dejó de usarse en la Edad Media y reapareció en el siglo XVII como calificativo de lo que "podría parecerse a un baile", en el sentido de ser un reiterado movimiento del cuerpo y miembros, en general grosero, contorsivo y saltarín, que se presentaba habitualmente en epidemias, que se conocen como de "manía danzante", seguramente histéricas. Si ocurría entonces algún caso de enfermedad Corea, como la que hoy conocemos, que hasta podría ser la desencadenante de la epidemia, quedaba sumergida en el conjunto y resultaba irreconocible. Del examen de la escasa iconografía de la época y de la música con que se pretendía curarla, no surge un patrón general que permita analizar los movimientos, para compararlos con la enfermedad Corea actual. Más aún, un análisis semiológico de varios casos actuales de Corea de Huntington no permite reconocerle condición de baile. Dada la época del apogeo de la popularidad de la Corea (o tarantismo) epidémicos, resulta probable que su calificación de baile y la pretensión de asignarle un correlato musical haya sido producto de la coyuntura cultural del barroco