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

P. P. Pramstaller*, G. Künig, K. Leenders, M. Kann, K. Hedrich, P. Vieregge, C. G. Goetz, C. Klein

*Korrespondierende/r Autor/-in für diese Arbeit
21 Zitate (Scopus)

Abstract

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.

OriginalspracheEnglisch
ZeitschriftNeurology
Jahrgang58
Ausgabenummer5
Seiten (von - bis)808-810
Seitenumfang3
ISSN0028-3878
DOIs
PublikationsstatusVeröffentlicht - 12.03.2002

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