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NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.

International journal of molecular sciences - 1 Mar 2024

Della Vecchia Stefania, Tessa Alessandra, Pasquariello Rosa, Seabra Luis, Crow Yanick J, Battini Roberta

Abstract excerpt

NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutières syndrome (AGS). To report a 16-year-old boy harbouring a novel NOTCH1 mutation who presented neuroradiological features suggestive of enhanced type I interferon signalling. We describe five years...

Topics

Male
Adolescent
Humans
Brain
Leukoencephalopathies
Nervous System Malformations
Cysts
Mutation
Magnetic Resonance Imaging
Receptor, Notch1

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PMID: 38474113
DOI: 10.3390/ijms25052864
PMCID: PMC10932310

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