title: Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation.
abstract: Parkin disease is usually autosomal recessive; however, two studies have shown that asymptomatic heterozygotes have nigrostriatal dysfunction and even manifest subtle extrapyramidal signs. The authors used 18F-dopa PET to study 13 asymptomatic parkin heterozygotes and found a significant reduction of (18)F-dopa uptake in caudate, putamen, ventral, and dorsal midbrain compared with control subjects. Four had subtle extrapyramidal signs. Parkin heterozygosity is a risk factor for nigrostriatal dysfunction and in some may contribute to late-onset Parkinson disease.
authors.affiliation: MRC Clinical Sciences Centre, and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK.
authors.forename: N L
authors.initials: NL
authors.lastname: Khan
authors.forename: C
authors.initials: C
authors.lastname: Scherfler
authors.forename: E
authors.initials: E
authors.lastname: Graham
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: N
authors.initials: N
authors.lastname: Quinn
authors.forename: A J
authors.initials: AJ
authors.lastname: Lees
authors.forename: D J
authors.initials: DJ
authors.lastname: Brooks
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: P
authors.initials: P
authors.lastname: Piccini
mesh_terms: D000368:Aged; D001931:Brain Mapping / Q000379:methods; D002353:Carrier State; D004298:Dopamine / Q000378:metabolism*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D049268:Positron-Emission Tomography / Q000379:methods; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D004298:Dopamine