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June 15, 1984

Early diagnosis, genetic marker sought for tuberous sclerosis

JAMA. 1984;251(23):3061-3063. doi:10.1001/jama.1984.03340470003001

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To some clinicians, tuberous sclerosis is as obscure as the textbook chapter from which they first learned of it. But to many others, tuberous sclerosis is becoming increasingly visible as advances are made by investigators studying its cause, diagnosis, prevention, and—it is hoped—eventual cure.

Part of the interest stems from a growing realization that tuberous sclerosis probably afflicts more than the currently estimated one in 10,000 persons. There is also hope that techniques used to successfully identify a DNA "marker" for Huntington's disease using recombinant DNA technology (Nature 1983; 306:234-238, Arch Intern Med [PRIMARY CARE MEDICINE] 1984;144:243-247) may be applied to tuberous sclerosis and may in the future provide means for prenatal diagnosis of the disorder.

Experts from around the world met recently at the "Tuberous Sclerosis Research Workshop" to discuss future directions and research goals. The workshop, hosted by the Harvard-Massachusetts Institute of Technology Division of Health Sciences and