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

被引：16
作者：
Garraux, Gaetan [1 ,2 ,3 ,5 ]
Caberg, Jean-Hubert [4 ]
Vanbellinghen, Jean-Francois [4 ]
Jamar, Mauricette [4 ]
Bours, Vincent [4 ]
Moonen, Gustave [3 ]
Dive, Dominique [3 ]
机构：
[1] Fonds Rech Sci, Brussels, Belgium
[2] Univ Hosp Ctr, MOVERE Grp, Liege, Belgium
[3] Univ Hosp Ctr, Dept Neurol, Liege, Belgium
[4] Univ Hosp Ctr, Dept Human Genet, Liege, Belgium
[5] Univ Liege, MOVERE Grp, Cyclotron Res Ctr, B-4000 Liege, Belgium
来源：
ARCHIVES OF NEUROLOGY | 2012年 / 69卷 / 03期
关键词：
SYNUCLEIN GENE DUPLICATION; ALPHA-SYNUCLEIN; DISEASE; CHROMOSOME; IDENTIFICATION; PHENOTYPE; DEMENTIA; DYSTONIA;
D O I：
10.1001/archneurol.2011.802
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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. MainOutcome Measures: Clinical, neuroimaging, and genetic data. Results: The duplicated region contains 150 known genes, including the alpha-synuclein (SNCA) gene locus. Motor and 6-[F-18] 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.
引用
收藏
页码：398 / 400
页数：3
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