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Article

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.

Neuropediatrics - 1 Apr 2022

Stellingwerff Menno D, Nulton Corinne, Helman Guy, Roosendaal Stefan D, Benko William S, Pizzino Amy, Bugiani Marianna, Vanderver Adeline, Simons Cas, van der Knaap Marjo S

Abstract excerpt

OBJECTIVE: Heterozygous NOTCH3 variants are known to cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with patients typically presenting in adulthood. We describe three patients presenting at an early age with a vascular leukoencephalopathy. Genome sequencing revealed bi-allelic variants in the NOTCH3 gene. METHODS: Clinical records and available MRI and...

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Identifiers

PMID: 35026854
DOI: 10.1055/a-1739-2722
PMCID: PMC9270846

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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