Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome
Copy number variants (CNVs) at the chromosome 16p11.2 are among the most frequent risk factors for neurodevelopmental and psychiatric conditions , such as autism spectrum disorder , schizophrenia  or intellectual impairment . A link to parkinsonism has been discussed based on a single report of a child with an atypical combination of paroxysmal kinesiogenic dyskinesia (PKD) and parkinsonism carrying a 16p11.2 microdeletion . Yet, confirmatory evidence from a second independent case with a 16p11.2 CNV as well as more direct evidence for nigro-striatal vulnerability is still missing. Moreover, it remains unclear whether parkinsonism might be associated only with 16p11.2 microdeletions or also with other 16p11.2 CNV types, as different 16p11.2 CNVs can be associated with different phenotypes . We here show that parkinsonism and nigro-striatal vulnerability can be associated with a 16p11.2 duplication.
Case Report. A 69-year-old male with negative family...
MS was supported by the Else Kröner-Fresenius Stiftung.
Collection and analysis of data: BR, DB, HG, MS. Drafting of the manuscript: BR, MS. Critical review of the manuscript: BR, DB, HG, MS.
Compliance with ethical standards
Conflicts of interest
None to declare.
The study was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. All individuals gave written informed consent prior to their inclusion in the present study.