Journal
NEUROLOGY
Volume 64, Issue 1, Pages 134-136Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000148725.48740.6D
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Funding
- MRC [MC_U120036861] Funding Source: UKRI
- Medical Research Council [MC_U120036861] Funding Source: researchfish
- Medical Research Council [MC_U120036861] Funding Source: Medline
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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 F-18-dopa PET to study 13 asymptomatic parkin heterozygotes and found a significant reduction of F-18-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.
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