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Institute of Neurology (Dr. Coutinho) and the Department of Neurological Diseases (Drs. Lima and Coutinho), Hospital Santo Antonio. Oporto, Portugal.
A Portuguese family of non-Azorean origin is described as affected by an autosomal dominant inherited ataxia resembling Machado-Joseph disease. Clinical criteria for diagnosis are proposed, based on a complex clinical picture extending from extrapyramidal signs to peripheral amyotrophy associated with secondary, but more Specific, minor features such as progressive external ophthalmoplegia, dystonia, intention fasciculation-like movements of facial and lingual muscles, and bulging eyes. Machado-Joseph disease may be more widespread than previously believed.
Address correspondence and reprint requests to Dr. Coutinho, Institute of Neurology, Hospital Santo Antonio, Oporto, Portugal.
Accepted for publication August 10, 1979.
This work was supported by a grant from the Portuguese Ministry of Health.
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