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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
S F LaPoint1, U Patel, A Rubio
1Department of Pathology, University of Rochester School of Medicine, New York, USA.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic neurovascular disorder. It is characterized by arterial wall degeneration and GOM deposition, with symptoms including stroke and dementia.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a neurovascular disease affecting young to middle-aged individuals.
- It is caused by mutations in the Notch3 gene on chromosome 19.
- Clinical manifestations include migraines, mood disturbances, focal neurologic deficits, transient ischemic attacks, strokes, and dementia.
Purpose of the Study:
- To review the clinical, radiologic, pathologic, and genetic features of CADASIL.
- To summarize current literature on this rare neurovascular disorder.
Main Methods:
- Literature review of English language publications on CADASIL.
- Analysis of clinical, imaging, histopathological, and genetic data.
Main Results:
- CADASIL is characterized by stereotypic degeneration of arterial walls, particularly intracranial.
- Pathology includes deposition of granular osmiophilic material (GOM) in the arterial media, which is pathognomonic.
- The exact nature of GOM and the pathogenesis of CADASIL require further elucidation.
Conclusions:
- CADASIL is a distinct genetic arteriopathy with a characteristic clinical and pathological profile.
- Understanding the genetic basis (Notch3 mutations) and pathological hallmarks (GOM) is crucial for diagnosis and research.
- Further research is needed to determine the nature of GOM and elucidate the disease pathogenesis.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described neurovascular disease affecting young to middle age individuals. The disease is caused by mutations in the Notch3 gene located in the short arm of chromosome 19. Clinically, the disease is characterized by migrainous headaches (with or without aura), mood disturbances, focal neurologic deficits, transient ischemic attacks, strokes, and dementia. Pathologically, the disease is characterized by a stereotypic degeneration of the arterial walls (especially in the intracranial compartments) with deposition in the media of a nonatheromatous, nonamyloidotic substance that under the electron microscope (EM) appears as a granular osmiophilic material (GOM), pathognomonic for the disease. The nature of the GOM is undetermined and the pathogenesis remains to be elucidated. A review of current literature in English language is presented on the clinical, radiologic, pathologic, and genetic features of CADASIL.