Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.156...

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Principais autores:	Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2025-01-01
Colecção:	Clinical Parkinsonism & Related Disorders
Assuntos:	CADASIL Parkinsonism Stroke Variant of uncertain significance
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2590112525000015
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