Birkeland, Nina Asheim;
Carlsen, Viel Nyborg;
Gulati, Sasha;
Gustavsson, Emil K;
Aasly, Jan O;
(2022)
Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene.
Parkinsonism & Related Disorders
, 98
pp. 88-90.
10.1016/j.parkreldis.2022.01.019.
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Abstract
A patient with Parkinson's disease (PD) who was examined as a candidate for DBS was initially rejected due to extensive brain calcifications. Upon second opinion and planning of trajectories she underwent successful surgery. Genetic analyses identified a mutation in SLC20A2, a gene known to cause brain calcifications, but no mutation known to cause PD was found.
| Type: | Article |
|---|---|
| Title: | Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.parkreldis.2022.01.019 |
| Publisher version: | https://doi.org/10.1016/j.parkreldis.2022.01.019 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| Keywords: | Brain calcifications; SLC20A2; Deep brain stimulation; Early-onset Parkinson's disease; Genetics of Parkinson's disease |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10143159 |
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