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NEUROLOGY 1994;44:823
© 1994 American Academy of Neurology

Reduced basal ganglia volume associated with the gene for Huntington's disease in asymptomatic at-risk persons

E. H. Aylward, PhD, J. Brandt, PhD, A. M. Codori, PhD, R. S. Mangus, P. E. Barta, MD, PhD and G. J. Harris, PhD

Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD (Drs. Aylward, Brandt, Codori, and Barta, and R.S. Mangus)
Department of Neuroimaging Research Laboratory, Department of Psychiatry, Tufts University School of Medicine, Boston, MA. (Dr. Harris)

Article abstract –Previous investigations using linear CT measures found no evidence of caudate atrophy in asymptomatic persons who have the DNA haplotype linked to the Huntington's disease (HD) gene. We measured volumes of the caudate, putamen, and globus pallidus on MRIs of 10 gene marker-positive and 18 gene marker-negative asymptomatic at-risk persons. The volumes of all basal ganglia structures were significantly reduced in the marker-positive group, even after controlling for age, total brain volume, and minor neurologic signs. Discriminant function analysis using basal ganglia volumes and age as predictor variables correctly identified genetic status in 86% of subjects. These results indicate that basal ganglia volume is reduced before individuals become symptomatic with HD.

Address correspondence to Dr. Elizabeth H. Aylward, Department of Psychiatry, Meyer 3-166, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287-7362. Address reprint requests to Dr. Jason Brandt, Department of Psychiatry, Meyer 218, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287-7218.

Supported by NIH grants MH46034, NS16375, and NIH-NCRR, OPD-GCRC grant RR00722.

Received August 16, 1993. Accepted for publication in final form November 11, 1993.




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