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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.

Original publication

DOI

10.1002/mds.10422

Type

Journal article

Journal

Mov Disord

Publication Date

07/2003

Volume

18

Pages

751 - 757

Keywords

Adult, Chromosome Mapping, Chromosomes, Human, Pair 1, Consanguinity, Corpus Striatum, Diagnostic Imaging, Disease Progression, Female, Genetic Carrier Screening, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Nerve Net, Netherlands, Neurologic Examination, Oncogene Proteins, Parkinsonian Disorders, Pedigree, Phenotype, Protein Deglycase DJ-1, Radionuclide Imaging, Substantia Nigra