Objective: To clarify the characteristic magnetic resonance imaging (MRI) findings in patients with Machado-Joseph disease (MJD) diagnosed by genetic analysis.
Patients and methods: Using MRI, we examined 31 patients genetically diagnosed as having MJD, 20 patients with sporadic olivopontocerebellar atrophy, and 26 control subjects.
Results: The MRIs of patients with MJD disclosed remarkably reduced width of the superior cerebellar peduncles, atrophy in the frontal and temporal lobes, diminished transverse diameter of the globus pallidus, and decreased anteroposterior and transverse diameters of the pons, which correlated with the width of the middle cerebellar peduncle. The width of the superior cerebellar peduncles also correlated with the diameter of the dentate or red nucleus in patients with MJD, but not in controls or in patients with sporadic olivopontocerebellar atrophy. On T2- and/or proton-weighted axial MR imaging, a high signal intensity in the transverse pontine fibers was observed in 14 (45.2%) of 31 patients with MJD and in all patients with sporadic olivopontocerebellar atrophy, but not in any controls.
Conclusion: Affected afferent and efferent cerebellar tracts and atrophy of the frontal and temporal lobes and globus pallidus are characteristics of MRI of patients with MJD.