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Parkin mutations in a patient with hemiparkinsonism–hemiatrophy: A clinical–genetic and PET study

From the Department of Neurology (Dr. Pramstaller), Regional General Hospital, Bolzano/Bozen, Italy; Department of Neurology (Dr. Künig), University Hospital Zurich, Switzerland; Department of Neurology (Dr. Leenders), Groningen University Hospital, the Netherlands; Departments of Neurology (Drs. Vieregge and Klein, and M. Kann and K. Hedrich) and Human Genetics (Dr. Klein, M. Kann, and K. Hedrich), Medical University of Lübeck, Germany; and Department of Neurological Science (Dr. Goetz), Rush Medical College, Chicago, IL.

Address correspondence and reprint requests to Dr. Peter P. Pramstaller, Department of Neurology, Regional General Hospital, Bolzano/Bozen, 5 Lorenz Boehler, I-39100, Italy; e-mail: pppramsta{at}rolmail.net

The authors describe a 37-year-old woman with early-onset hemiparkinsonism (HP) and ipsilateral body hemiatrophy (HA). Genetic analysis revealed a missense mutation (Arg275Trp) and a duplication of exon 7 of parkin. The complementary metabolic and receptor pattern of PET ligands corresponded to that typically found in idiopathic PD, although tracer binding asymmetry was lacking. Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign.

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