spinocerebellar ataxia

History Machado-Joseph disease (MJD) is an autosomal dominant (AD) spinocerebellar ataxia (SCA) initially described in descendants of immigrants from the Portuguese islands of the Azores. It was in 1972 that Kenneth K. Nakano and colleagues described the Machado family, with an AD, late onset, cerebellar ataxia with peripheral neuropathy. All family members were descendants from Guilherme Machado, who had migrated from São Miguel (Azores) to Massachusetts in the late nineteenth or early twentieth centuries.