Genomic Diagnoses for Ectopic Intracerebral Calcifications.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
18
10
2022
accepted:
24
05
2023
medline:
7
8
2023
pubmed:
7
8
2023
entrez:
7
8
2023
Statut:
epublish
Résumé
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. 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. 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 ( These findings support the use of genomic testing for symptomatic patients with EICs.
Sections du résumé
Background and Objectives
UNASSIGNED
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
UNASSIGNED
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
UNASSIGNED
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 (
Discussion
UNASSIGNED
These findings support the use of genomic testing for symptomatic patients with EICs.
Identifiants
pubmed: 37547187
doi: 10.1212/NXG.0000000000200083
pii: NXG-2023-000175
pmc: PMC10399077
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e200083Informations de copyright
Written work prepared by employees of the Federal Government as part of their official duties is, under the U.S. Copyright Act, a “work of the United States Government” for which copyright protection under Title 17 of the United States Code is not available. As such, copyright does not extend to the contributions of employees of the Federal Government.
Déclaration de conflit d'intérêts
The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.
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