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NEUROLOGY 1989;39:280
© 1989 American Academy of Neurology

Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease

L. R. Griffiths, BSc Hon, M. B. Zwi, MD, J. G. McLeod, MD, PhD, D. A. Ross, PhD and G. A. Nicholson, MD, PhD

Department of Medicine, University of Sydney, Australia.

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder originally localized to chromosome 1 by linkage to the Duffy blood group. Studies have since shown that the disorder may be heterogeneous, as not all families show this linkage. We tested genetic heterogeneity by the HOMOG computer program in 15 CMT1 pedigrees informative for Duffy. We detected no evidence for heterogeneity in this sample, but when we combined results with previously published lod scores, heterogeneity was statistically significant. Twelve of the 15 families studied did not show linkage to Duffy. We found six of these families to be informative for a chromosome 19 marker, apolipoprotein CII (ApoC2). Despite a previous report showing probable linkage of a non-Duffy-linked CMT1 pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMT1 in these families.

Address correspondence and reprint requests to L.R. Griffiths, Department of Medicine, University of Sydney, Sydney 2006, Australia.

Supported by Muscular Dystrophy Association (USA), National Health and Medical Research Council (Australia), and the New South Wales Department of Health.

Received May 10, 1988. Accepted for publication in final form August 5, 1988.






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