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Microcephaly vera, progressive motor neuron disease, and nigral degeneration

Department of Neurology (Drs. Halperin and Williams), Massachusetts General Hospital, Boston, MA, and the Eunice Kennedy Shriver Center for Mental Retardation (Dr. Kolodny), Waltham, MA.

A patient is described who was microcephalic at birth. After attaining early motor milestones, she developed progressive lower motor neuron dysfunction of the limb and bulbar musculature, combined with dystonia and an action tremor. The pathology and possible pathogenesis are discussed.

Address correspondence and reprint requests to Dr. Halperin, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114.

This work was supported in part by Grants HD04147, HD05515, and NS06638 of the National Institutes of Health.

This paper was presented in part at the thirty-second annual meeting of the American Academy of Neurology, New Orleans, LA, April 1980.

Accepted for publication August 4, 1981.