Description of Rett syndrome
Descripción del síndrome de Rett
- Date
- 1966 · confidence high
- Place
- Vienna, Austria
- Credited to
- Andreas Rett
- Field
- Life & health
What was discovered
Austrian pediatrician Andreas Rett identified this neurological disorder of developmental regression and motor impairment in young girls. Because he published his findings in German, the syndrome went almost unnoticed internationally until Swedish pediatrician Bengt Hagberg publicized it in English in 1983, giving it its name.
What it led to
- International recognition of the syndrome after Hagberg's article (1983)
- Discovery of the MECP2 gene mutation as the cause (1999)