Machado-Joseph disease and SCA3

Publisher Website
Google Scholar
Abstract
Based on initial descriptions, Machado-Joseph disease (MJD) was thought to be a distinct clinicopathologic entity. This autosomal dominant disorder was originally described in the Machado family on the Azorean island of San Miguel, [1] in the Thomas family, which had migrated from San Miguel to Massa-chusetts, [2] and in the Joseph family, which had migrated from the Azorean island of Flores to California. [3] These families were initially considered to have distinct phenotypes, but it was soon recognized that the diverse phenotypes occurred within each family and that all three families had the same disorder. [4] The disorder, initially felt to be limited to Azorean and Portuguese families, has occurred in families of diverse ethnic origins on five continents. [5]