Reference : Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Neurology
http://hdl.handle.net/2268/114608
Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.
English
Garraux, Gaëtan mailto [Université de Liège - ULg > Département des sciences cliniques > Neurologie]
CABERG, Jean-Hubert mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
Vanbellinghen, Jean-Francois [> > > >]
JAMAR, Mauricette mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique]
Bours, Vincent mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine]
Moonen, Gustave mailto [Université de Liège - ULg > Département des sciences cliniques > Neurologie]
DIVE, Dominique mailto [Centre Hospitalier Universitaire de Liège - CHU > > Neurologie Sart Tilman]
2012
Archives of Neurology
American Medical Association
69
3
398-400
Yes (verified by ORBi)
International
0003-9942
1538-3687
Chicago
IL
[en] parkinson ; genetic ; PET ; alpha-synuclein ; SNCA ; L-DOPA
[en] 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, Liege, 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 alpha-synuclein (SNCA) gene locus. Motor and 6-[(18)F]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.
Centre de Recherches du Cyclotron - CRC
Researchers ; Professionals
http://hdl.handle.net/2268/114608
10.1001/archneurol.2011.802
http://archneur.ama-assn.org/cgi/content/abstract/69/3/398

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