The importance of longitudinal observational studies for hereditary neurodegenerative disorders

Résumé fourni par la source

Spinocerebellar ataxia type 3 (SCA3) was first described independently in southeastern Massachusetts1 and southern California.2 A trio of Boston based neurologists3 and a Canadian geneticist set up a free annual data gathering clinic that one of us assisted in (JHF) until the gene was found. The disease underwent several name changes, including “Machado disease,” “Machado-Joseph” disease, then “Azorean disease” because the originally described families originated there and was found there as well.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.