Autosomal dominant system degeneration in Portuguese families of the Azores Islands

Abstract

Patients [40] in 15 families from the Portuguese Azores Islands were studied. Each family was affected by an autosomal dominant genetic disorder. Symptoms began between ages 20 and 50. Ataxia, ophthalmoplegia, pyramidal signs, dystonia, rigidity and distal muscular atrophy were the major clinical findings. This was apparently a single genetic disease with variable phenotypic expression. Machado disease, nigrospinodentatal degeneration with nuclear ophthalmoplegia, and autosomal dominant striatonigral degeneration may be variations of this same genetic disease.