Psychiatry and genetics : psychosocial, ethical, and legal considerations / edited by Michael A. Sperber, Lissy F. Jarvik.

Date:
[1976], ©1976
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Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Psychiatry and genetics : psychosocial, ethical, and legal considerations / edited by Michael A. Sperber, Lissy F. Jarvik. Source: Wellcome Collection.

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    10 LISSY F. JARVIK ABNORMAL WITH KAYSER-FLEISCHER RING Figure 2. Theoretic pedigree of Wilson disease. Source: L. F. Jarvik, Genetic aspects of aging. In Rossman, I. (ed.): Clinical Geriatrics. Philadelphia: J. B. Lippincott, 1971, p. 85. Reprinted by permission. plasma protein (ceruloplasmin). This deficiency, in turn, is responsible for the accumulation of excess copper, with a consequent deposition of the copper in the liver parenchyma, the basal ganglia, and the cornea— the latter producing the pathognomonic Kayser-Fleischer ring. More¬ over, as genetic counselors we do not face the same dilemma with Wil¬ son disease as with Huntington chorea, i.e., the possibility of carrier detection without the accompanying ability to alter the course of the disease. In Wilson disease, homozygotes can be detected prior to the onset of symptoms, and penicillamine, together with dietary manage¬ ment, have been therapeutically successful. If introduced in childhood, it may prove efficacious in prophylaxis. Clearly, it is essential to iden¬ tify carriers and, as soon as reliable techniques become available, to divulge the pertinent information to all individuals, affected and nonaf- fected. Those who are not carriers can be relieved of all anxiety; those who are homozygous for the trait can be treated prophylactically; and those who are heterozygous carriers can be assured that their children can receive prophylaxis and, therefore, will not be doomed to suffer the