Article
Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study.
Neurology - 12 Mar 2002
Pramstaller P P, Künig G, Leenders K, Kann M, Hedrich K, Vieregge P, Goetz C G, Klein C
Abstract excerpt
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...
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