Machado-Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies

Authors

  • Dr. Lewis Sudarsky,

    Corresponding author
    1. Neurology Division, Brigham and Women's Hospital, and the Neurology Service, Veterans Administration Medical Center, West Roxbury, Massachusetts, U.S.A.
    • VA Medical Center, 1400 VFW Parkway, West Roxbury, MA 02132, U.S.A.
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  • Lee Corwin,

    1. Neurology Division, Brigham and Women's Hospital, and the Neurology Service, Veterans Administration Medical Center, West Roxbury, Massachusetts, U.S.A.
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  • David M. Dawson

    1. Neurology Division, Brigham and Women's Hospital, and the Neurology Service, Veterans Administration Medical Center, West Roxbury, Massachusetts, U.S.A.
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Abstract

Experience is described in 25 patients from southern New England with Machado-Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.

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