Journal
PARKINSONISM & RELATED DISORDERS
Volume 96, Issue -, Pages 88-90Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2022.01.019
Keywords
Brain calcifications; SLC20A2; Deep brain stimulation; Early-onsetParkinson's disease; Genetics ofParkinson's disease
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A patient with Parkinson's disease initially rejected for DBS due to extensive brain calcifications underwent successful surgery after seeking a second opinion. Genetic analysis revealed a mutation in the SLC20A2 gene, known to cause brain calcifications, but no known PD-causing mutation.
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.
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