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Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance

Child Study Center and the Department of Human Genetics (Dr. Pauls), Yale University School of Medicine, New Haven, CT; and the Departments of Neurology and Physiology and Pharmacology (Dr. Korczyn), Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

We reanalyzed data collected in a large family study of idiopathic torsion dystonia (ITD) using complex segregation analysis. Previous investigators concluded that the mode of inheritance of ITD differed between Jews and non-Jews. The results from our segregation analyses suggest that ITD is inherited as an autosomal dominant trait, with low penetrance (0.255 to 0.333), regardless of ethnic origin. The low penetrance implies that, although a major gene is important for the expression of the illness, other factors also contribute to the manifestation of ITD.

Address correspondence and reprint requests to Dr. Amos D. Korczyn, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel 69 978.

Supported in part by a grant from the Dystonia Foundation and by a Research Scientist Development Award from NIMH (MH00508) to D.L.P.

Received May 9, 1989. Accepted for publication in final form December 8, 1989.

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