HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Hayden, M. R. Articles by Martin, W.R.W. Search for Related Content PubMed PubMed Citation Articles by Hayden, M. R. Articles by Martin, W.R.W.

The combined use of positron emission tomography and DNA polymorphisms for preclinical detection of Huntington's disease

Departments of Medical Genetics and Medicine (Dr. Hayden and Mr. Hewitt), the Division of Neurology, Department of Medicine (Dn. Stoessl and Martin), the Department of Psychiatry (Dr. Clark), and the Division of Nuclear Medicine, Department of Radiology (Dr. Ammann), University of British Columbia, Vancouver, BC, Canada.

Twenty-three persons at risk for Huntington's disease (HD) have been studied using a polymorphic human linked DNA marker (D4S10) and positron emission tomography (PET). We determined the likelihood of inheritance of the gene for HD in 13 persons, using DNA polymorphism studies. Of these, eight persons had a greater than 90% probability of being presymptomatic heterozygotes for HD. Three of these eight subjects had caudate glucose utilization detected by PET that was more than 2 standard deviations (SD) below the age-matched control mean. Measurement of caudate glucose utilization in the other five presumed presymptomatic heterozygotes revealed results between 1 and 2 SD below the mean. Five persons had a less than 10% likelihood of having inherited the abnormal gene for HD. Of these, four had normal rates of glucose utilization in the caudate nuclei. However, one individual with DNA results indicating a low risk of developing HD had abnormally low measures of caudate glucose utilization. This suggests that a recombination had occurred between the linked marker and the gene in this person. These studies suggest that PET studies of caudate glucose utilization may help to confirm results of DNA studies in some persons, and may provide an opportunity to detect when DNA results may be incorrect due to recombination.

Address correspondence and reprint requests to Dr. Hayden, Department of Medical Genetics, Health Sciences Centre Hospital, University of British Columbia, Vancouver, BC, Canada V6T 1W5.

Supported by grants from the MRC of Canada, British Columbia Health Care Research Foundation, the Huntington Society of Canada, and the Dystonia Medical Research Foundation.

Received January 27, 1987. Accepted for publication in final form May 19, 1987.

This article has been cited by other articles:

				A. Feigin, K. L. Leenders, J. R. Moeller, J. Missimer, G. Kuenig, P. Spetsieris, A. Antonini, and D. Eidelberg Metabolic Network Abnormalities in Early Huntington's Disease: An [18F]FDG PET Study J. Nucl. Med., November 1, 2001; 42(11): 1591 - 1595. [Abstract] [Full Text] [PDF]

				G. J. Harris, A. M. Codori, R. F. Lewis, E. Schmidt, A. Bedi, and J. Brandt Reduced basal ganglia blood flow and volume in pre-symptomatic, gene-tested persons at-risk for Huntington's disease Brain, September 1, 1999; 122(9): 1667 - 1678. [Abstract] [Full Text] [PDF]

				S. C. Kirkwood, E. Siemers, J. C. Stout, M. E. Hodes, P. M. Conneally, J. C. Christian, and T. Foroud Longitudinal Cognitive and Motor Changes Among Presymptomatic Huntington Disease Gene Carriers Arch Neurol, May 1, 1999; 56(5): 563 - 568. [Abstract] [Full Text] [PDF]