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NEUROLOGY 1980;30:1084
© 1980 American Academy of Neurology

Presumably Azorean disease in a presumably non-Portuguese family

Edward B. Healton, M. D., John C. M. Brust, M. D., Derek L. Kerr, M. D., Stanley Resor, M. D. and Audrey Penn, M. D.

Department of Neurology, Harlem Hospital Center, New York, NY.

Autosomal dominant motor system degeneration (ADMSD) is a hereditary ataxia that has been reported previously only in Portuguese families from the Azores Islands. Cerebellar ataxia, pyramidal and extrapyramidal signs, amyotrophy, dystonia, abnormal eye movements, and prominent eyes are variably present. Four members of a family had cerebellar ataxia, dystonic posturing, a variety of abnormal eye movements, and prominent eyes resulting from lid retraction. Eight other family members had a similar disease. The combination of cerebellar ataxia, dystonia, abnormal eye movements, and prominent eyes has been reported only in ADMSD. The family reported here may be the first example of ADMSD in a non-Portuguese family.

Address correspondence and reprint requests to Dr. Healton, Department of Neurology, Harlem Hospital Center, 506 Lenox Avenue, New York, NY 10037.

Accepted for publication December 14, 1979.




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