Nine families with the SCA3/Machado-Joseph disease type of inherited ataxia.

Abstract

Higgins et al. [1] recently described seven American families with autosomal dominant ataxia having CAG trinucleotide repeat expansions in the coding region of the Machado-Joseph disease (MJD) gene. Two families were of German and Dutch-African origin. The authors suggested that American families with spinocerebellar ataxia type 3 (SCA3) differ from those with MJD by their ethnic origin, predominant spinopontine atrophy at autopsy, lack of dystonic features, and larger CAG repeat expansions. In addition, Silveira et al. [2] identified the MJD repeat mutation in 41% of 92 unrelated patients with …