Neurology. Genetics · 2023
Genomic Diagnoses for Ectopic Intracerebral Calcifications.
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Xiao Changrui, Cassini Thomas, Benavides Daniel, Ebrahim Anusha, Adams David, Toro Camilo
Аннотация
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.
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.