Background And Objectives: Ectopic intracerebral calcifications (EICs) in the basal ganglia, thalamus, cerebellum, or white matter are seen in a variety of disease states or may be found incidentally on brain imaging. The clinical significance and proportion of cases attributable to an underlying genetic cause is unknown.
Methods: This retrospective cohort study details the clinical, imaging, and genomic findings of 44 patients with EICs who had no established diagnosis despite extensive medical workup.
Results: In total, 15 of 44 patients received a diagnosis through genomic testing explaining their calcifications, and 2 more received a diagnosis that has not been previously associated with EICs. Six of the 15 were found to have one of the 4 genes (, , , and ) conventionally associated with the phenotypic term "idiopathic basal ganglia calcifications."
Discussion: These findings support the use of genomic testing for symptomatic patients with EICs.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10399077 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000200083 | DOI Listing |
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