Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation.
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.
Khan
N L
NL
MRC Clinical Sciences Centre, and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK.
Scherfler
C
C
Graham
E
E
Bhatia
K P
KP
Quinn
N
N
Lees
A J
AJ
Brooks
D J
DJ
Wood
N W
NW
Piccini
P
P
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*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D004298:Dopamine