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-[(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.
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 DisorderOutpatient 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-[(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.
Authors: Takuya Konno; Owen A Ross; Andreas Puschmann; Dennis W Dickson; Zbigniew K Wszolek Journal: Parkinsonism Relat Disord Date: 2015-09-03 Impact factor: 4.891
Authors: Eleanna Kara; Aoife P Kiely; Christos Proukakis; Nicola Giffin; Seth Love; Jason Hehir; Khadija Rantell; Amelie Pandraud; Dena G Hernandez; Elizabeth Nacheva; Alan M Pittman; Mike A Nalls; Andrew B Singleton; Tamas Revesz; Kailash P Bhatia; Niall Quinn; John Hardy; Janice L Holton; Henry Houlden Journal: JAMA Neurol Date: 2014-09 Impact factor: 18.302