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Article

A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report.

Medicine - 18 Feb 2022

Dang Jing, Lei Shengsuo, Xia Mingwan, Chen Jihua

Abstract excerpt

RATIONALE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of familial cerebral small vessel disease in adults, and is caused by NOTCH3 mutations. However, individual symptom types, onset, and disease severity span a wide range. PATIENT CONCERNS: Herein, we report a case of chronic neurological symptoms including slurring of speech,...

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Identifiers

PMID: 35363195
DOI: 10.1097/MD.0000000000028870
PMCID: PMC9281992

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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