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L ‐dopa–responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings
Author(s) -
Evans Andrew H.,
Costa Durval C.,
Gacinovic Sveto,
Katzenschlager Regina,
O'Sullivan John D.,
Heales Simon,
Lee Phillip,
Lees Andrew J.
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20146
Subject(s) - parkinsonism , dopamine transporter , putamen , dopamine receptor d2 , dopamine , context (archaeology) , dopamine plasma membrane transport proteins , endocrinology , medicine , spect imaging , dopamine receptor , psychology , neuroscience , chemistry , dopaminergic , nuclear medicine , biology , disease , paleontology
Reports of parkinsonism in phenylketonuria are exceedingly rare. We report on a patient who had received a delayed diagnosis of phenylketonuria as an infant and subsequently developed levodopa‐responsive parkinsonism at the age of 33. Single‐photon emission computed tomography (SPECT) using 123 I‐FP‐CIT ([ 123 )I]‐2 beta‐carbomethoxy‐3beta‐(‐4‐iodophenyl)‐N‐(3‐fluoropropyl)‐nortropane) used to measure dopamine transporter levels on two occasions, 7 and 9 years after the onset of neurological symptoms, were normal. Iodine‐123‐iodo‐lisuride SPECT (IBZM) imaging, however, showed reduced caudate over putamen binding. This combination of imaging findings indicates a possible upregulation of postsynaptic D2 receptors in the context of intact presynaptic dopamine nerve terminal density. © 2004 Movement Disorder Society