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.

*Chromosome Mapping, *Diagnostic Imaging, *Phenotype, 0 (Oncogene Proteins), 0 (PARK7 protein, human), Adult, Chromosomes, Human, Pair 1, Consanguinity, Corpus Striatum/pathology/physiopathology, Disease Progression, Female, Heterozygote Detection, Human, Male, Middle Aged, Nerve Net/radionuclide imaging, Netherlands, Neurologic Examination, Oncogene Proteins/*genetics, Parkinson's disease, Parkinsonian Disorders/*diagnosis/*genetics, Pedigree, Substantia Nigra/pathology/physiopathology, Support, Non-U.S. Gov't
dx.doi.org/10.1002/mds.10422, hdl.handle.net/1765/5905
Movement Disorders
Erasmus MC: University Medical Center Rotterdam

Dekker, M.C.J, Bonifati, V, Leenders, N, Galjaard, R-J.H, Horstink, M, Heutink, P, … Snijders, P.J.L.M. (2003). Clinical features and neuroimaging of PARK7-linked Parkinsonism. Movement Disorders (Vol. 18, pp. 751–757). doi:10.1002/mds.10422