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NEUROLOGY 1992;42:1894
© 1992 American Academy of Neurology

Parkinson's disease in twins studied with 18F-dopa and positron emission tomography

D. J. Burn, MRCP, M. H. Mark, MD, E. D. Playford, MRCP, D. M. Maraganore, MD, T. R. Zimmerman, Jr., MD, R. C. Duvoisin, MD, A. E. Harding, FRCP, C. D. Marsden, DSc and D. J. Brooks, MD

MRC Cyclotron Unit (Drs. Burn, Playford, and Brooks), Hammersmith Hospital, and Institute of Neurology (Drs. Maraganore, Harding, Marsden, and Brooks), Queen Square, London, UK and Department of Neurology (Drs. Mark, Zimmerman, and Duvoisin), University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, NJ.

We used 18F-dopa PET to examine concordance for dysfunction of the nigrostriatal dopaminergic system in 18 co-twins of patients with Parkinson's disease (PD) and scanned one clinically concordant monozygotic (MZ) twin pair, 17 asymptomatic co-twins (10 MZ, 7 dizygotic [DZ]), and 13 twins with PD (8 MZ, 5 DZ). Mean 18F-dopa uptake of the twins with PD was significantly reduced in putamen to 38% and in caudate to 66% of normal. Mean putamen 18F-dopa uptake for the 17 asymptomatic co-twins was also significantly reduced (86% of normal), as was putamen tracer uptake for the 10 MZ (87% of normal) and seven DZ (83% of normal) asymptomatic co-twin subgroups. Four of 10 MZ and two of seven DZ asymptomatic co-twins had putamen 18F-dopa uptake reduced more than 2 SDs below the normal mean. Three of these four asymptomatic MZ co-twins had tremor on examination at the time of PET and one has now developed PD 2 years later. Our PET findings give concordances for nigral dysfunction of 45% in the MZ pairs and 29% in the DZ pairs at a 2-SD threshold, and 18% in MZ and 0% in DZ pairs at a 3-SD threshold of significance. These data suggest that the concordance for nigral pathology in PD twins may be higher than previously realized and that the presence of an isolated postural or rest tremor may be a phenotypic expression of PD.

Address correspondence and reprint requests to Dr. David J. Burn, MRC Cyclotron Unit, Hammersmith Hospital, Du Cane Road, London W12 OHS, United Kingdom.

Dr. D.J. Burn is supported by a Wellcome Trust Project Grant. The Wellcome Trust funded the PET scans. Transportation of American subjects was made possible by the James Parkinson Fund of the Neurology Department, Robert Wood Johnson Medical School.

Received January 27, 1992. Accepted for publication in final form March 20, 1992.




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