Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.

[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.

Research Center/Unit :

GIGA CRC (Cyclotron Research Center) In vivo Imaging-Aging & Memory - ULiège

Disciplines :

Neurology
Genetics & genetic processes

Author, co-author :

Garraux, Gaëtan ; Université de Liège - ULiège > Département des sciences cliniques > Neurologie

CABERG, Jean-Hubert ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Vanbellinghen, Jean-Francois

JAMAR, Mauricette ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Bours, Vincent ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine

Moonen, Gustave ; Université de Liège - ULiège > Département des sciences cliniques > Neurologie

DIVE, Dominique ; Centre Hospitalier Universitaire de Liège - CHU > Neurologie Sart Tilman

Language :

English

Title :

Partial trisomy 4q associated with young-onset dopa-responsive parkinsonism.

Publication date :

2012

Journal title :

Archives of Neurology

ISSN :

0003-9942

eISSN :

1538-3687

Publisher :

American Medical Association, Chicago, United States - Illinois

Volume :

Issue :

Pages :

398-400

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

http://archneur.ama-assn.org/cgi/content/abstract/69/3/398

Available on ORBi :

since 15 March 2012

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Bibliography

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