Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

NL Khan, C Scherfler, E Graham, KP Bhatia, N Quinn… - Neurology, 2005 - AAN Enterprises
NL Khan, C Scherfler, E Graham, KP Bhatia, N Quinn, AJ Lees, DJ Brooks, NW Wood
Neurology, 2005AAN Enterprises
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 18F-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 …
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 18F-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.
American Academy of Neurology