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

Hack, Remco J; Gravesteijn, Gido; Cerfontaine, Minne N; Hegeman, Ingrid M; Mulder, Aat A; Lesnik Oberstein, Saskia A J; Rutten, Julie W

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.

Hack, Remco J; Gravesteijn, Gido; Cerfontaine, Minne N; Hegeman, Ingrid M; Mulder, Aat A; Lesnik Oberstein, Saskia A J; Rutten, Julie W.

Afiliação

Hack RJ; Department of Clinical Genetics (R.J.H., G.G., M.N.C., S.A.J.L.O., J.W.R.), Leiden University Medical Center, the Netherlands.
Gravesteijn G; Department of Clinical Genetics (R.J.H., G.G., M.N.C., S.A.J.L.O., J.W.R.), Leiden University Medical Center, the Netherlands.
Cerfontaine MN; Department of Clinical Genetics (R.J.H., G.G., M.N.C., S.A.J.L.O., J.W.R.), Leiden University Medical Center, the Netherlands.
Hegeman IM; Department of Pathology (I.M.H.), Leiden University Medical Center, the Netherlands.
Mulder AA; Department of Cell and Chemical Biology (A.A.M.), Leiden University Medical Center, the Netherlands.
Lesnik Oberstein SAJ; Department of Clinical Genetics (R.J.H., G.G., M.N.C., S.A.J.L.O., J.W.R.), Leiden University Medical Center, the Netherlands.
Rutten JW; Department of Clinical Genetics (R.J.H., G.G., M.N.C., S.A.J.L.O., J.W.R.), Leiden University Medical Center, the Netherlands.

Stroke ; 53(6): 1964-1974, 2022 06.

Article em En | MEDLINE | ID: mdl-35300531

Assuntos

CADASIL; Leucoencefalopatias; Humanos; Biópsia; Encéfalo/metabolismo; CADASIL/diagnóstico por imagem; CADASIL/genética; Estudos Transversais; Receptores ErbB/genética; Leucoencefalopatias/patologia; Imageamento por Ressonância Magnética; Mutação/genética; Receptor Notch3/genética; Receptores Notch/genética; Receptores Notch/metabolismo

Palavras-chave

biopsy; brain; capillaries; vascular dementia; white matter

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: CADASIL / Leucoencefalopatias Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Stroke Ano de publicação: 2022 Tipo de documento: Article

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