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Updated: Oct 1, 2025
Analysis of Gene Expression Changes in the Rat Hippocampus After Deep Brain Stimulation of the Anterior Thalamic Nucleus
Published on: March 8, 2015
Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene
Nina Asheim Birkeland1, Viel Nyborg Carlsen1, Sasha Gulati2
1Department of Neurology, Norway; Department of Neurosurgery, St. Olav's Hospital, Trondheim, Norway.
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.
Insights
A patient with Parkinson's disease and brain calcifications underwent successful deep brain stimulation surgery after initial rejection. Genetic testing revealed a brain calcification gene mutation but no Parkinson's-related mutation.
Area of Science:
- Neuroscience
- Genetics
- Neurosurgery
Background:
- Parkinson's disease (PD) is a neurodegenerative disorder often treated with deep brain stimulation (DBS).
- Extensive brain calcifications can complicate surgical candidacy for DBS.
- Genetic factors play a role in both PD and certain calcification disorders.
Observation:
- A PD patient was initially denied DBS due to widespread brain calcifications.
- A second surgical opinion allowed for revised trajectory planning.
- The patient successfully underwent deep brain stimulation surgery.
Findings:
- Genetic analysis identified a mutation in the SLC20A2 gene, a known cause of brain calcifications.
- No genetic mutations typically associated with Parkinson's disease were detected in the patient.
- This suggests a potential disconnect between the patient's PD symptoms and identified genetic factors.
Implications:
- This case highlights the possibility of performing DBS in PD patients with brain calcifications through careful surgical planning.
- The findings underscore the importance of comprehensive genetic evaluation in complex neurological cases.
- Further research is needed to understand the interplay between SLC20A2 mutations, brain calcifications, and Parkinson's disease presentation.
