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Novel likely pathogenic SLC20A variant in primary familial brain calcification
  1. Rishi Sharma1 and
  2. Derek Stitt2
  1. 1Department of Neurology, University of Minnesota Medical School Twin Cities, Minneapolis, Minnesota, USA
  2. 2Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
  1. Correspondence to Rishi Sharma; sharm415{at}umn.edu

Abstract

A woman in her 30s was referred to our neurology outpatient clinic following an incidental finding of significant bilateral and symmetric basal ganglia, thalamic, cerebellar and subcortical white matter calcification on brain CT and MRI. A diagnosis of asymptomatic primary familial brain calcification (PFBC) was made. Targeted genetic testing revealed a likely pathogenic variant in the SLC20A2 gene, the most common gene in which pathogenic variants have been implicated in PFBC. These findings prompted genetic testing and brain CT of our patient’s asymptomatic 64-year-old father. These tests revealed the same variant in SLC20A2 and similar brain calcification on CT in the patient’s father.

  • neuro genetics
  • neurology
  • neuroimaging

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Footnotes

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  • Contributors Both authors conceived the ideas presented. DS acquired and analysed the data. RS drafted the manuscript. Both authors revised and approved the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.