CADASIL


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CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts & leukoencephalopathy. An autosomal dominant neurologic disorder of adult onset caused by mutations in NOTCH3, which maps to chromosome 19q12.

Clinical findings
Migraine, recurrent strokes, progressive dementia.

Diagnosis
MRI—anterior temporal pole involvement, skin biopsy with anti-NOTCH3 antibody.

DiffDx
Binswanger’s disease

Management
Supportive
References in periodicals archive ?
Arboleda's team studied the importance of mural cells in vascular integrity and mural cell loss, a known characteristic of CADASIL and other small vessel diseases, in Notch3 knockout mice.
CADASIL is rare, affecting about one in 50,000 people, but the researchers' insights inform the study of stroke and dementia.
Morphologically, the vascular lesion causing CADASIL is a non-arteriosclerotic, non-amyloid arteriopathy.
It is well-known that migraine could be the only clinical manifestation of CADASIL in some cases and phenotype of CADASIL did not clearly associate with genotype.
A genetic form of vascular dementia, CADASIL, has been discovered, and the mutant gene identified as Notch 3.
Experts at the University of Warwick Medical School have researched the genetic disease CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy).
1,2) CADASIL was initially thought to exclusively involve cerebral vessels, but similar pathology has been demonstrated in the small arteries of the skin, nerve, and muscle, and CADASIL is now regarded to be a systemic disease.
Q My 49-year-old nephew has been diagnosed with CADASIL, which we have been told leads to cognitive decline.
One of the most frequently described genetic vascular leucoencephalopathies is CADASIL.