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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • N. L. Khan
  • C. Scherfler, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London
  • ,
  • E. Graham, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London
  • ,
  • K. P. Bhatia, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London
  • ,
  • N. Quinn, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London
  • ,
  • A. J. Lees, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London
  • ,
  • D. J. Brooks
  • N. W. Wood, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London
  • ,
  • P. Piccini, Hammersmith Hospital

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.

Original languageEnglish
JournalNeurology
Volume64
Issue1
Pages (from-to)134-136
Number of pages3
ISSN0028-3878
DOIs
Publication statusPublished - 11 Jan 2005
Externally publishedYes

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