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.
Genomic testing identified genetic causes for ectopic intracerebral calcifications (EICs) in over a third of patients. This supports using genetic analysis for individuals with unexplained EICs.
Area of Science:
- Neuroimaging
- Genetics
- Neurology
Background:
- Ectopic intracerebral calcifications (EICs) are observed in various conditions and incidentally on brain scans.
- The clinical significance and genetic basis of EICs remain largely unknown.
Purpose of the Study:
- To investigate the clinical, imaging, and genomic findings in patients with EICs without a prior diagnosis.
- To determine the proportion of EIC cases attributable to underlying genetic causes.
Main Methods:
- Retrospective cohort study of 44 patients with EICs.
- Comprehensive clinical, imaging, and genomic analysis.
Main Results:
- Genomic testing yielded a diagnosis in 15 of 44 patients (34%).
- Two patients received diagnoses not previously linked to EICs.
- Six patients had mutations in genes (PDGFB, PDGFRB, SLC20A2, XPR1) associated with idiopathic basal ganglia calcifications.
Conclusions:
- Genomic testing is valuable for diagnosing symptomatic patients with EICs.
- Genetic analysis can uncover novel causes and confirm known genetic links for EICs.
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