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Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

N. L. Khan, MD, C. Scherfler, MD, E. Graham, BSc, K. P. Bhatia, MD, N. Quinn, MD, A. J. Lees, MD, D. J. Brooks, MD, DSc, FMedSci, N. W. Wood, MD, PhD and P. Piccini, MD

From the MRC Clinical Sciences Centre, and Division of Neuroscience, Faculty of Medicine (Drs. Khan, Brooks, and Piccini), Imperial College, Hammersmith Hospital, London; Department of Molecular Neuroscience (Drs. Khan, Scherfler, Lees, and Wood, E. Graham) and Sobell Department of Motor Neuroscience and Movement Disorders (Drs. Bhatia and Quinn), Institute of Neurology, London; and Reta Lila Weston Institute for Neurological Studies (Dr. Lees), Royal Free Hospital and University College Medical School, London, UK.

Address correspondence and reprint requests to Dr. Paola Piccini, MRC Building, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK; e-mail: paola.piccini{at}csc.mrc.ac.uk

Parkin disease is usually autosomal recessive; however, two studies have shown that asymptomatic heterozygotes have nigrostriatal dysfunction and even manifest subtle extrapyramidal signs. The authors used ¹⁸F-dopa PET to study 13 asymptomatic parkin heterozygotes and found a significant reduction of ¹⁸F-dopa uptake in caudate, putamen, ventral, and dorsal midbrain compared with control subjects. Four had subtle extrapyramidal signs. Parkin heterozygosity is a risk factor for nigrostriatal dysfunction and in some may contribute to late-onset Parkinson disease.

Received October 28, 2003. Accepted in final form August 18, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the January 11 issue to find the title link for this article.

Deceased, October 2001.

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