Genomic Diagnoses for Ectopic Intracerebral Calcifications
Changrui Xiao1, Thomas Cassini1, Daniel Benavides1
1From the National Human Genome Research Institute (C.X., T.C., D.B., A.E., D.A., C.T.), Bethesda, MD; and Department of Neurology (C.X.), University of California - Irvine.
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 (PDGFB, PDGFRB, SLC20A2, and XPR1) 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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