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<p>A 43-year-old woman was found to have prominent cerebellar and basal ganglia calcifications. History and examination were notable for numerous self-reported neuropsychiatric symptoms and slight abnormalities in cognitive and motor testing. Genetic testing revealed a novel likely pathogenic variant in the <i>XPR1</i> gene, that represents the first heterozygous in-frame deletion likely associated with primary brain calcifications. The first objective of this report is to describe this novel variant and its associated phenotype. The second objective is to interpret the patient’s symptoms and imaging abnormalities in relation to current knowledge in systems neuroscience and theoretical neurology of the basal ganglia and cerebellum.</p>

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Primary Brain Calcification Associated with a Novel XPR1 In-Frame Deletion: Clinical Characterization and Insights into Cerebellar and Basal Ganglia Contributions

  • 期刊论文

  • 发表日期：

    2026年6月19日

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  • Vincenzo Daniele Boccia,
  • Giulietta Maria Riboldi,
  • Xavier Guell

摘要

A 43-year-old woman was found to have prominent cerebellar and basal ganglia calcifications. History and examination were notable for numerous self-reported neuropsychiatric symptoms and slight abnormalities in cognitive and motor testing. Genetic testing revealed a novel likely pathogenic variant in the XPR1 gene, that represents the first heterozygous in-frame deletion likely associated with primary brain calcifications. The first objective of this report is to describe this novel variant and its associated phenotype. The second objective is to interpret the patient’s symptoms and imaging abnormalities in relation to current knowledge in systems neuroscience and theoretical neurology of the basal ganglia and cerebellum.