Abstract of the article "History of CADASIL France creation"
CADASIL was discovered in a French family. In 1976, a man was hit by a cerebral attack. He was examined in an hospital in Paris, where a neurologist, Mrs BOUSSER, determined that his TIAs had no usual reasons and that he presented no vascular risk factor. Scanner images showed that he had already suffered several small brain infarcts. A few years after, his daughter had also some neurological problems; she came in the same department and the scanner investigations showed the same kind of brain disorders. After discussing on the history of their family, mostly living in the west of France, Mrs BOUSSER decided to launch a research program, guessing it was an unknown disease, with probably a genetic origin; she had already heard about other families presenting the same kind of health disorders. A Professor in biology, Elisabeth TOURNIER-LASSERVE, got involved in this program. They showed the illness had an autosomal dominant transmission way and they gave a name to it: CADASIL. This discovery was announced during international medical conferences and in medical publications. Many members of this family accepted to participate in the research program (clinical, genetics and MRI exams) and they had several opportunities to have contacts with Professors BOUSSER and TOURNIER-LASSERVE who shared with them their hypotheses and results. Thanks to the participation of this family, the NOTCH3 gene was identified in 1995. ♦
Written by Chantal Neau