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

@article{Pramstaller2002ParkinMI,
  title={Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study.},
  author={P P Pramstaller and Gabriella K{\"u}nig and Klaus Leenders and Martin Kann and Katja Hedrich and P. Vieregge and Christopher G. Goetz and Christine Klein},
  journal={Neurology},
  year={2002},
  volume={58 5},
  pages={
          808-10
        }
}
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… CONTINUE READING
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