Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of this disease, more than 40 years ago.
A 32-year-old woman presented with a 5-year history of ataxia, dysphagia, and dysarthria; family history was positive for spinocerebellar ataxia type 3 (SCA3). Examination revealed bulging eyes, upward gaze palsy with vertical nystagmus, bilateral horizontal nystagmus, slow saccades, dysmetria, and gait ataxia (video). Neuroimaging showed moderate cerebellar atrophy. Neuropsychological evaluation showed deficits in memory and executive function. Based on the patient's clinical presentation and examination, SCA3 was suspected, and subsequently confirmed with genetic testing.Upward gaze palsy appears to be a distinguishing feature of SCA3 and, therefore, may assist in the clinical differentiation of SCAs.1,2
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