18F]FDOPA PET as an endophenotype for Parkinson's Disease linkage studies

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Brad A RacetteJoel S Perlmutter

Abstract

Parkinson disease (PD) is a late onset disorder with age-dependent penetrance that may confound genetic studies, since affected individuals may not demonstrate clinical manifestations at the time of evaluation. The use of endophenotypes, biologic surrogates for clinical disease diagnoses, may permit more accurate classification of at-risk subjects. Positron emission tomography (PET) measurements of 6-[18F]fluorodopa ([18F]FDOPA) uptake indicate nigrostriatal neuronal integrity and may provide a useful endophenotype for PD linkage studies. We performed [18F]FDOPA PET in 11 members of a large, multi-incident Amish family with PD, 24 normals and 48 people with clinically definite idiopathic PD (PD controls). Clinical diagnoses in the Amish were clinically definite PD in four, clinically probable in one, clinically possible in five, and normal in one. Abnormal [18F]FDOPA posterior putamen uptake was defined as less than 3 standard deviations below the normal mean. The criteria were applied to the Amish sample to determine a PET endophenotype for each. We performed genetic simulations using SLINK to model the effect phenoconversion with the PET endophenotype had on logarithm of odds (LOD) scores. PET endophenotype confirmed the stat...Continue Reading

References

Nov 1, 1975·Journal of Psychiatric Research·M F FolsteinP R McHugh
Aug 1, 1992·Physics in Medicine and Biology·T J SpinksJ Reed
Mar 1, 1983·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·C S PatlakJ D Fenstermacher
Sep 1, 1995·Movement Disorders : Official Journal of the Movement Disorder Society·J DuarteD B Calne
Apr 1, 1996·Brain : a Journal of Neurology·P K MorrishD J Brooks
Feb 4, 1998·Brain : a Journal of Neurology·J R Moeller, D Eidelberg
Apr 4, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·P K MorrishD J Brooks
Oct 17, 1998·Nature·E LeroyM H Polymeropoulos
Oct 18, 2000·JAMA : the Journal of the American Medical Association·UNKNOWN Parkinson Study Group
Aug 17, 2001·NeuroImage·K J BlackJ S Perlmutter
Feb 28, 2002·Neurology·B A RacetteJ S Perlmutter
Jul 3, 2003·Annals of Neurology·Alan L WhoneUNKNOWN REAL-PET Study Group
Dec 25, 2003·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·W-D Heiss, R Hilker
Dec 14, 2004·The New England Journal of Medicine·Stanley FahnUNKNOWN Parkinson Study Group

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Citations

May 29, 2008·Annals of Human Genetics·S L LeeJ L Haines
Jul 31, 2009·Neuroepidemiology·Brad A RacetteJoel S Perlmutter
Dec 26, 2017·Cerebellum & Ataxias·Roberto Rodríguez-LabradaLuis Velázquez-Pérez
Nov 5, 2014·Annals of Neurology·Joel S Perlmutter, Scott A Norris
Mar 17, 2015·Annals of the New York Academy of Sciences·Psyche LouiJanani Iyer
Oct 17, 2018·Seminars in Nuclear Medicine·Baijayanta Maiti, Joel S Perlmutter

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