who discovered huntington's disease

Huntington’s disease is named after the American physician George Huntington , who first gave a clear, detailed description of the illness in 1872.

Quick Scoop

• The earliest known written description of a Huntington-like illness was by Charles Oscar Waters in 1841, but it was not widely recognized.

• In 1872 , George Huntington published a concise paper titled “On Chorea,” describing a hereditary movement disorder with mental changes and a characteristic pattern of inheritance.

• Because his description was so accurate and influential, the condition later took his name as Huntington’s disease.

• The gene responsible for Huntington’s disease (the HTT gene with an expanded CAG repeat) was discovered much later, in 1993 , by a large international research team, marking a major milestone in understanding the disease.

Mini timeline

1. 1841 – Charles Oscar Waters writes an early description of a similar disorder.

2. 1860 – Johan Christian Lund describes affected families in Norway (known locally as “Setesdal rykkja”).

3. 1872 – George Huntington publishes “On Chorea,” the classic clinical description that leads to the eponym “Huntington’s disease.”

4. Late 20th century – Global clinical and genetic research on families with Huntington’s disease expands.

5. 1993 – Discovery of the Huntington’s disease gene and its CAG repeat mutation.

In short, George Huntington is credited with “discovering” Huntington’s disease as a distinct hereditary disorder, while later teams uncovered its genetic cause.

Information gathered from public forums or data available on the internet and portrayed here.