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NEUROLOGY 1993;43:2040
© 1993 American Academy of Neurology

Genomic imprinting and anticipation in idiopathic torsion dystonia

M. C. LaBuda, PhD, N. A. Fletcher, MD, A. D. Korczyn, MD, MSc, R. Inzelberg, MD, A. E. Harding, MD, FRCP and D. L. Pauls, PhD

From the Addiction Research Center (Dr. LaBuda). National Institute on Drug Abuse, Baltimore, MD; the University Department of Clinical Neurology (Drs. Fletcher and Harding), Institute of Neurology, Queen Square, London, UK; Sackler Faculty of Medicine (Drs. Korczyn and Inzelberg), Tel Aviv University, Israel; and the Child Study Center and Department of Genetics (Dr. Pauls), Yale University School of Medicine, New Haven, CT.

Idiopathic torsion dystonia (ITD) is a dominantly inherited disorder with variable penetrance and expressivity. Factors affecting the penetrance of the ITD gene have not yet been identified. The present study used four published series of cases to test specific hypotheses regarding factors that could affect the expression of ITD. Among the combined 253 families, transmission of ITD did not depend on either the sex of the affected offspring or that of the transmitting parent. Furthermore, neither the specific type of dystonia manifested, the site at which clinical signs of dystonia first appeared, nor age of onset differed significantly as a function of the gender of the transmitting parent. However, in familial cases of later onset (age ≤20 years), nearly all involved a transmitting mother. There is evidence for consistency of age of onset within the subset of Jewish families. Although anticipation effects are apparent, sampling bias cannot be ruled out.

Address correspondence and reprint requests to Professor Amos D. Korczyn, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.

Received September 29, 1992. Accepted for publication in final form March 16, 1993.






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