Cargando…
The story of George Huntington and his disease
George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958,...
Autor principal: | |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782548/ https://www.ncbi.nlm.nih.gov/pubmed/27011624 http://dx.doi.org/10.4103/0972-2327.175425 |
_version_ | 1782419982537195520 |
---|---|
author | Bhattacharyya, Kalyan B. |
author_facet | Bhattacharyya, Kalyan B. |
author_sort | Bhattacharyya, Kalyan B. |
collection | PubMed |
description | George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington's disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder. |
format | Online Article Text |
id | pubmed-4782548 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-47825482016-03-23 The story of George Huntington and his disease Bhattacharyya, Kalyan B. Ann Indian Acad Neurol History of Medicine George Huntington described some families with choreiform movements in 1872 in the United States of America and since then many such families have been described in other parts of the world and works on the genetics of the disease have brought new vistas in the understanding of the disease. In 1958, Americo Negrette, a young Venezuelan physician observed similar subjects in the vicinity of Lake Maracaibo which was presented by his co-worker, Ramon Avilla Giron at New York in 1972 when United States of America had been commemorating the centenary year of Huntington's disease. Nancy Wexler, a psychoanalyst, whose mother had been suffering from the disease attended the meeting and organized a research team to Venezuela and they systematically studied more than 18,000 individuals in order to work out a common pedigree. They identified the genetic locus of the disease in the short arm of chromosome 4 and observed that it was a trinucleotide repeat disorder. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4782548/ /pubmed/27011624 http://dx.doi.org/10.4103/0972-2327.175425 Text en Copyright: © 2016 Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | History of Medicine Bhattacharyya, Kalyan B. The story of George Huntington and his disease |
title | The story of George Huntington and his disease |
title_full | The story of George Huntington and his disease |
title_fullStr | The story of George Huntington and his disease |
title_full_unstemmed | The story of George Huntington and his disease |
title_short | The story of George Huntington and his disease |
title_sort | story of george huntington and his disease |
topic | History of Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782548/ https://www.ncbi.nlm.nih.gov/pubmed/27011624 http://dx.doi.org/10.4103/0972-2327.175425 |
work_keys_str_mv | AT bhattacharyyakalyanb thestoryofgeorgehuntingtonandhisdisease AT bhattacharyyakalyanb storyofgeorgehuntingtonandhisdisease |