Cargando…

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

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 r...

Descripción completa

Detalles Bibliográficos
Autores principales: Dang, Jing, Lei, Shengsuo, Xia, Mingwan, Chen, Jihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281992/
https://www.ncbi.nlm.nih.gov/pubmed/35363195
http://dx.doi.org/10.1097/MD.0000000000028870