title: Clinical features and neuroimaging of PARK7-linked parkinsonism.
abstract: We recently reported linkage to chromosome 1p36 (the PARK7-locus) in a family with early-onset parkinsonism. Linkage to this locus has since been confirmed in an independent data set. We describe clinical and neuroimaging features of the 4 patients in the original PARK7-linked kindred. Age at onset of parkinsonism varied from 27 to 40 years. Clinical progression was slow, and response to dopaminergic therapy good. The clinical spectrum ranged from mild hypokinesia and rigidity, to severe parkinsonism with levodopa-induced dyskinesias and motor fluctuation. Three of four patients with PARK7-linked parkinsonism exhibited psychiatric disturbances. Structural neuroimaging was unremarkable, but functional imaging of the brain, carried out in 3 patients, showed significant evidence for a presynaptic dopamine deficit, and assessment of cerebral glucose metabolism, as carried out in 1 patient, showed possible cerebellar involvement.
authors.affiliation: Genetic-Epidemiologic Unit, Departments of Epidemiology and Biostatistics and Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands. dekker@epib.fgg.eur.nl
authors.forename: Marieke
authors.initials: M
authors.lastname: Dekker
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: John
authors.initials: J
authors.lastname: van Swieten
authors.forename: Nico
authors.initials: N
authors.lastname: Leenders
authors.forename: Robert-Jan
authors.initials: RJ
authors.lastname: Galjaard
authors.forename: Pieter
authors.initials: P
authors.lastname: Snijders
authors.forename: Marten
authors.initials: M
authors.lastname: Horstink
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: Ben
authors.initials: B
authors.lastname: Oostra
authors.forename: Cornelia
authors.initials: C
authors.lastname: van Duijn
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003241:Consanguinity; D003342:Corpus Striatum / Q000473:pathology / Q000503:physiopathology; D003952:Diagnostic Imaging; D018450:Disease Progression; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009415:Nerve Net / Q000000981:diagnostic imaging; D009426:Netherlands; D009460:Neurologic Examination; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D000071617:Protein Deglycase DJ-1; D011877:Radionuclide Imaging; D013378:Substantia Nigra / Q000473:pathology / Q000503:physiopathology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1