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.
Remco J HackGido GravesteijnMinne N CerfontaineIngrid M HegemanAdriaan A MulderSaskia A J Lesnik ObersteinJulie W RuttenPublished in: Stroke (2022)
EGFr 7-34 variants with normal brain magnetic resonance imaging up to age 58 years. Our study has important implications for CADASIL diagnosis, disease prediction, and the counseling of individuals from EGFr 7-34 CADASIL pedigrees.
Keyphrases
- magnetic resonance imaging
- white matter
- small cell lung cancer
- epidermal growth factor receptor
- resting state
- tyrosine kinase
- cerebral ischemia
- computed tomography
- contrast enhanced
- functional connectivity
- subarachnoid hemorrhage
- multiple sclerosis
- cell proliferation
- copy number
- ultrasound guided
- smoking cessation
- soft tissue
- hiv testing
- human immunodeficiency virus