Objectives: To clarify the phenotypic varieties in Machado-Joseph disease (MJD).
Materials and methods: We studied a 64-year-old man with ataxia, retinal degeneration and dementia neurologically, ophthalmologically and genetically.
Results: The patient noted dysesthesia of his hands at age 57 and later had memory disturbance. He had gait disturbance and needed a wheelchair at age 64. His total IQ was 61 on the WAIS-R. He had loss of central vision, ophthalmoplegia, hearing impairment, dysarthria, truncal and limb ataxia, sensory disturbance, and mild weakness of the extremities. Electrophysiologically he was suspected to have polyneuropathy. Brain MRI showed marked atrophy of the cerebellum and pons with mild cerebral atrophy. Ophthalmologic evaluation revealed multiple chorioretinal atrophy. Expanded CAG repeat numbers in MJD1 were 64.
Conclusion: These findings indicate that the clinical features of MJD might cover a wider spectrum than previously expected, though it is possible that these complications, namely retinal degeneration and dementia, were incidental findings in this patient.