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NEUROLOGY 1978;28:703
© 1978 American Academy of Neurology

Autosomal dominant system degeneration in Portuguese families of the Azores Islands

A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

PAULA COUTINHO, M.D. and CORINO ANDRADE, M.D.

Institute of Neurology and the Department of Neurological Diseases of the Santo Antonio Hospital, Oporto, Portugal.

We studied 40 patients in 15 families from the Portuguese Azores Islands. Each family was affected by an autosomal dominant genetic disorder. Symptoms began between ages 20 and 50. Ataxia, ophthalmoplegia, pyramidal signs, dystonia, rigidity, and distal atrophy were the major clinical findings. Evidence suggested that this was a single genetic disease, with variable phenotypic expression. Machado disease, nigrospinodentatal degeneration with nuclear ophthalmoplegia, and autosomal dominant striatonigral degeneration may be variations of this same genetic disease.

Dr. Andrade's address is The Institute of Neurology, Santo Antonio Hospital, Oporto, Portugal.

This work was supported in part by grants from the Portuguese Department of Health and the Franco-Portuguese Committee of the Island of Flores.

Accepted for publication April 5, 1977.




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