AI Article Synopsis
- A case report describes a 31-year-old woman with young-onset, dopa-responsive parkinsonism caused by a new genetic duplication on chromosome 4q.
- The duplication involves 150 genes, including the α-synuclein (SNCA) gene, which is associated with motor features in other reported cases.
- The patient exhibited unusual clinical traits like delayed developmental milestones and musculoskeletal issues, suggesting that other duplicated genes may play a role in her condition.
Article Abstract
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.
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| http://dx.doi.org/10.1001/archneurol.2011.802 | DOI Listing |
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