Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease

Abstract
MACHADO-Joseph disease (MJD) is an autosomal dominant, multisystem, neurodegenerative disorder originally described in Portuguese-Azorean families.1-3 More recently, MJD has also been reported in non-Azorean families worldwide and is considered the most common type of autosomal dominant spinocerebellar degeneration.4-9 Advances in genetic analysis have made it possible to diagnose MJD more accurately.10 We clarified the characteristic magnetic resonance imaging (MRI) findings in patients with MJD diagnosed by genetic analysis.