A 52-year-old woman presented with a 4-year history of parkinsonism characterized by hypomimia, bradykinesia, right-hand rest tremor, reduced right arm swing, and short stride length. CT head (Figure 1) and MRI brain (Figure 2) showed bilateral dense calcification throughout the basal ganglia, thalami, cerebellum, subcortical, and deep white matter. Genetic testing revealed a pathogenic heterozygous deletion (NM_001257180.1: c.1794+1del) in the splicing region of the SLC20A2 gene, confirming a diagnosis of autosomal dominant primary familial brain calcification. It subsequently transpired that her brother with cervical dystonia carried the same genetic variation. This genotype is associated with calcifications that typically involve the basal ganglia, thalamus, and cerebellum.1,2 Patients may be asymptomatic, experience parkinsonism, or less commonly dystonia.1
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- Received May 24, 2022.
- Accepted in final form August 17, 2022.
- © 2022 American Academy of Neurology