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Robert J. Joynt, MD, PhD

JAMA. 1992;268(3):380-382.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Interest in neurology and neuroscience continues to mount as new research unveils more of the basic changes underlying neurological disorders. Advances in prevention, diagnosis, and treatment of neurological disease will depend on elucidation of their pathology on a genetic, molecular, and cellular level.

An example of treatment arising from fundamental knowledge about disease mechanisms is enzyme replacement therapy in Gaucher's disease. Gaucher's disease is caused by a deficiency of the enzyme glucocerebrosidase, with consequent accumulation of glucocerebrosides in macrophages. It results in a gradual enlargement of visceral organs, replacement of bone marrow, and, in some persons, progressive neurological deterioration. The progression of the disease was beneficially altered by the infusion of macrophage-targeted glucocerebrosidase in 12 patients.¹ Organ enlargement was reversed, anemia was corrected, and energy was improved. Similar approaches may be beneficial in other enzyme-deficiency disorders.

The issue of treatment for carotid stenosis has been controversial. A large, multicenter . . . [Full Text PDF of this Article]

Author Affiliations
University of Rochester (NY) School of Medicine and Dentistry

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