CADASIL

Handbook of Clinical Neurology
Michael M Wang

Abstract

Cerebral small-vessel disease is a prevalent condition that is strongly associated with ischemic stroke and dementia. The most prevalent inherited cause of cerebral small-vessel disease is CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a disorder linked to mutations in NOTCH3. The most common symptoms of CADASIL are small ischemic strokes and/or transient ischemic attacks and cognitive impairment, appearing in middle age, that may progress to frank vascular dementia. However, it is increasingly recognized that individual symptom types, onset, and disease severity span a wide spectrum, even among individuals in the same family. Magnetic resonance imaging in CADASIL reveals severe white-matter hyperintensities, evidence of prior subcortical strokes, and, in some cases, microhemorrhages. Several hundred mutations in NOTCH3 have been described worldwide in CADASIL, and virtually all of these mutations alter the cysteine content of the extracellular NOTCH3 gene product. This molecular genetic signature of CADASIL has led to the hypothesis that structural abnormalities in the vascular smooth-muscle protein NOTCH3 trigger arterial degeneration, vascular protein accumulation, and ce...Continue Reading

Citations

Mar 12, 2019·Current Opinion in Hematology·Elisa A FerranteManfred Boehm
Mar 15, 2019·Evidence-based Complementary and Alternative Medicine : ECAM·Kui HuangYunpeng Cao
Oct 27, 2020·Frontiers in Genetics·Mahmod PanahiHomira Behbahani
Nov 20, 2020·Scandinavian Journal of Caring Sciences·Sanna-Maria NurmiEino Solje
Jan 20, 2021·Molecular Neurobiology·Arianna Manini, Leonardo Pantoni
Jan 7, 2021·Tissue Engineering. Part C, Methods·Tommaso RistoriCecilia M Sahlgren
Mar 11, 2021·Cellular and Molecular Life Sciences : CMLS·Timothy J A Chico, Elisabeth C Kugler
Mar 24, 2021·Journal of Molecular Biology·Christopher HopkinsW David Freeman
Jul 11, 2021·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Johra KhanJ Francis Borgio

❮ Previous
Next ❯

Related Concepts

Related Feeds

Acute Stroke

A stroke occurs when blood supply to the brain is interrupted depriving the brain of oxygen and nutrients. This feed focuses cerebrovascular accidents including ischemic and paralytic stroke.

Brain Ischemia

Brain ischemia is a condition in which there is insufficient blood flow to the brain to meet metabolic demand. Discover the latest research on brain ischemia here.