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

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

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.

[1] C. Goetz,et al. Hemiparkinsonism with hemiatrophy , 1988, Neurology.

[2] W D Heiss,et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the Parkin gene , 2001, Annals of neurology.

[3] M. Farrer,et al. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. , 2001, American journal of human genetics.

[4] Nir Giladi,et al. Metabolic topography of the hemiparkinsonism‐hemiatrophy syndrome , 1994, Neurology.

[5] S. Bressman,et al. Parkinsonism, dystonia, and hemiatrophy , 2000, Movement disorders : official journal of the Movement Disorder Society.

[6] S. Minoshima,et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism , 1998, Nature.

[7] J. Missimer,et al. Complementary positron emission tomographic studies of the striatal dopaminergic system in Parkinson's disease. , 1995, Archives of neurology.

[8] Bonifati,et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. , 2000, The New England journal of medicine.

[9] A. Lang,et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. , 2001, Human molecular genetics.

[10] H L Klawans,et al. Hemiparkinsonism as a late complication of hemiatrophy , 1981, Neurology.