Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years

To determine whether extremely mild small vessel disease (SVD) phenotypes can occur in NOTCH3 variant carriers from Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) pedigrees using clinical, genetic, neuroimaging, and skin biopsy findings. METHODS:...

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Detalles Bibliográficos
Autores principales: Hack, Remco J., Gravesteijn, Gido, Cerfontaine, Minne N., Hegeman, Ingrid M., Mulder, Aat A., Lesnik Oberstein, Saskia A.J., Rutten, Julie W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9126263/
https://www.ncbi.nlm.nih.gov/pubmed/35300531
http://dx.doi.org/10.1161/STROKEAHA.121.036307

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