Américo Negrette and Huntington's disease

Abstract

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.

Chorea: A Journey Throughout History

“…Dr. Negrette’s diagnosis of HD was later confirmed by Andre Barbeau 68 and the family was the subject of a discussion at the historic Centennial Symposium for HD held at Ohio State University in 1972, whose proceedings were published in the first volume of Advances in Neurology . 62 , 69 Interest in this family led the Wexler sisters, along with a group of investigators from the Massachusetts General Hospital, to create the Venezuela Project.…”

“…The original progenitor of this family lived in the early 1800s and left more than 18,000 descendants (more than 14,000 of whom are currently living), many of whom are either affected by the illness or at risk. 67 , 68 Dr. Negrette recorded the history told by the locals, known as “San Viteros”, that the first afflicted person in the Maracaibo area was a Spaniard priest named Antonio Justo Doria, who arrived in the area in the 1860s. 69 However, more recently Alice and Nancy Wexler did a field investigation, reviewing all birth and death certificates in the area and failed to identify this Señor Doria.…”

The Huntington's Disease Gene Discovery

“…His academic trajectory, nevertheless, would be restored later by Dr. José Domingo Leonardi, the university rector 20 . On December 4, 1959, Dr. Américo along with other researchers and a gathering of medical students created a group that would become the Institute of Clinical Investigations of the Universidad del Zulia and, later, “Institute of Clinical Investigations Dr. Américo Negrette” ( Instituto de Investigaciones Clínicas Dr. Américo Negrette ) 20,21 . In 1962, Negrette published a book of great significance, describing those families living with HD, which would lead those communities to prominence beyond the borders of Venezuela in years to come.…”

“…These villages had previously caught Americo's attention some years before, when he was working in the barrio of San Luis, on the surroundings of Maracaibo. [18][19][20][21] Negrette recounted that as he strolled through the streets, he saw a boy staggering through the streets. "It bothered me to see this drunk boy, and I commented to my friend what a pity to see such a young boy in such a drunken state."…”

The story of George Huntington and his disease

“…[ 1 ] Okun and Thommi, his collaborators, wrote that when he presented his observations 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, and Moscovich et al ., further wrote accounts of his life and works. [ 6 7 ] He left for posterity his remarkable treatise, “Chorea de Huntington. Maracaibo, Venezuela: University of Zulia 1958,” that has firmly found its pride of place in the history of medicine and his autobiography, “Ciudad de Fuego” contains a detailed account of how he identified the illness.…”