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El primer caso de Alzheimer tiene un diagnóstico completo después de 106 años

10 enero 2013 - 21:09 - Autor:

Más de cien años después de que el psiquiatra y neurólogo alemán Alois Alzheimer identificara por primera vez la enfermedad de Alzheimer en una persona, un análisis del cerebro de ese primer paciente ha revelado el origen genético de su enfermedad, lo que constituye la pieza que completa el rompecabezas de Auguste Deter, la primera mujer diagnosticada con esta dolencia en 1906.

Durante años, los científicos se han preguntado si el primer caso de Alzheimer tenía también una causa genética, hasta que las muestras del cerebro de esta mujer se descubrieron en un sótano de una universidad el siglo pasado. Durante décadas, los más de 200 portamuestras preparados a partir de ese primigenio cerebro se perdieron.

Luego, en 1992, el profesor Manuel Graeber, de la Facultad de Medicina de la Universidad de Sydney (Australia), descubrió nueva información que apuntaba a su ubicación y dos equipos de investigadores médicos empezaron una insólita carrera para encontrarlos.

En el otro equipo estaba el profesor Ulrich Müller, del Instituto de Genética Humana de la Universidad de Giessen en Alemania; y ambos se unieron al final para producir el diagnóstico molecular definitivo, que recientemente se ha publicado en la revista Lancet Neurology.

Un equipo buscó en Frankfurt, pero fue el grupo dirigido por el profesor Graeber, que entonces trabajaba en el Instituto Max Planck de Neurobiología, el que finalmente encontraría el material en un sótano de la Universidad de Munich en 1997.

Las muestras se examinaron y se confirmó más allá de toda duda que Auguste Deter padecía la enfermedad de Alzheimer, dada la presencia de un gran número de placas amiloides y ovillos de fibrina en su cerebro, que son características de la enfermedad.

Hasta ahora no había sido posible un análisis de ADN más sofisticado de la pequeña cantidad de este material de investigación, que dormía el sueño de los justos rodeado de polvo. “Y se encontró una mutación genética cuyo efecto final es la formación de placas amiloides. Estas placas, que se forman entre las células nerviosas, son el punto de referencia clave para el diagnóstico de la enfermedad. Hemos descubierto que Auguste Deter es uno de aquellos casos en los que se produce la aparición temprana de la enfermedad por una mutación en un solo gen” afirma el Profesor Graeber, que está preparando un libro sobre este descubrimiento.

Durante años, los científicos se han preguntado por este primer caso de la enfermedad de Alzheimer y por su posible origen genético. Concretamente desde 1901, cuando Auguste Deter, una paciente de sexo femenino de mediana edad que estaba en un asilo de Frankfurt presentó síntomas no habituales de demencia (incluyendo la pérdida de memoria a corto plazo) y llegó a las manos del Dr. Alzheimer.

Cuando ella murió, el neurólogo alemán examinó su cerebro y describió seis años después el daño distintivo que inauguraba uno de los mayores problemas de salud en las sociedades industrializadas. Se estima que, para el año 2050, habrá 100 millones de enfermos de Alzheimer en el mundo. Pero siempre tiene que haber un principio, un primer caso. Y esa fue Auguste Deter.

Fuentes: Lancet Neurology y Universidad de Sydney 

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interesante descubrimiento y de gran ayuda
pues fue asi como se comenzo la investigacion profunda
de casos d alzheimer y q a su vez sig siendo una d las investigaciones a larg plazo…
y muchos como yo tenemos un familiar cn alzheimer..
una enfermedad doloroza y lenta para familiares de quien la padese…
en mi caso mi abuela.. <3
buena informacion y como dicen desde, ayer y hasta mañana…. osea siempre!! seguira siendo la informacion que mas ayudo y q abrio puertas a cntinuar descubriend tanto pro como contras de esta enfermedad.

creo que hicieron muy buen trabajo al molestarse tanto ,( ya que fue solo el primer caso y podrian no aberse preocupao ) y no se donde estan pero creo que todas las personas que sepan lo que es el alzhéimer en sus propias carnes ban a estar muy agradecidas ( al igual que yo )

a un que sea mas joven de lo que aparece en mi ” nombre ” creo que esto es uno de los mayores y mas grandes descubrimientos y no se quien lea esto pero si tiene un familiar un amigo o alguien con esta enfermedad decirles que lo siento mucho y que dios los bendiga ( evanjelista )

que dios es muy buenno y miisiricordioso
y que…. dios no da mas cargas de las que alguien puede soportar
y que oren mucho
bbssss… kdtbm

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El primer caso de Alzheimer tiene un diagnóstico completo después de 106 años | Futuretech
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