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Mar 2012

Partial Trisomy 4q Associated With Young-Onset Dopa-Responsive Parkinsonism

Author Affiliations

Author Affiliations: Le Fonds de la Recherche Scientifique, Brussels, Belgium (Dr Garraux); MOVERE Group (Dr Garraux) and Departments of Neurology (Drs Garraux, Moonen, and Dive) and Human Genetics (Drs Caberg, Jamar, and Bours and Mr Vanbellinghen), University Hospital Center, Liège, Belgium; and MOVERE Group, Cyclotron Research Center, University of Liège, (Dr Garraux), Liège. Mr Vanbellinghen is now with the Department of Molecular Biology, Institut de Pathologie et de Génétique ASBL, Gosselies, Belgium.

Arch Neurol. 2012;69(3):398-400. doi:10.1001/archneurol.2011.802

Objective To describe a patient who developed a young-onset, dopa-responsive parkinsonism linked to a de novo heterozygous interstitial duplication 4q.

Design Case report.

Setting Movement Disorder Outpatient Clinic at the University Hospital Centre, Liège, Belgium.

Patient A 31-year-old woman.

Main Outcome Measures Clinical, neuroimaging, and genetic data.

Results The duplicated region contains 150 known genes, including the α-synuclein (SNCA) gene locus. Motor and 6-[18F]fluoro-L-dopa positron emission tomography features are similar to those previously reported in heterozygote SNCA duplication carriers. Altered expression of other genes contained in the duplicated region may contribute to clinical features that are uncommon in the phenotypic spectrum of SNCA multiplications such as delayed developmental psychomotor milestones during infancy and musculoskeletal abnormalities.

Conclusion This case report provides new insights on the genetic basis of parkinsonism.