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Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.

Journal of the neurological sciences - 15 Aug 2016

Abou Al-Shaar Hussam, Qadi Najeeb, Al-Hamed Mohamed H, Meyer Brian F, Bohlega Saeed

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy caused by mutations in NOTCH3, very rarely homoallelic. OBJECTIVE: To describe the clinical, radiological, and neuropsychological features in an extended CADASIL family including members with either a homozygous or heterozygous NOTCH3 R1231C mutation. METHODS: The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Notch3

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PMID: 27423596
DOI: 10.1016/j.jns.2016.05.061

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NOTCH3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

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