AI Article Synopsis
- The exact cause of CADASIL is not fully understood, even though it's well-defined in terms of clinical symptoms, tissue appearance, and genetics.
- The review examines seven different models proposed to explain the disease, including autoimmune responses, mitochondrial issues, and Notch3 function loss.
- It also explores how damage to vascular smooth muscle cells relates to ischemic brain lesions and suggests reasons why CADASIL primarily affects the nervous system despite being a whole-body vascular issue.
Article Abstract
The pathogenic mechanism underlying Cerebral Autosomal Dominant Artheriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) remains elusive although the disease is well characterized at clinical, histological and genetic level. The conservation of the Notch pathway among species allowed the development of several animal and cellular models in order to study it. This review analyzes the reliability of the 7 pathogenic models raised for CADASIL disease: autoimmune origin, mitochondrial dysfunction, loss of Notch3 function, granular osmiophilic material (GOM) toxicity and long term unfolded protein response (UPR) activation. Besides, the relationship between vascular smooth muscle cells (VSMC) degeneration, ischemic lesions and symptoms are discussed. Lastly, some theories are pointed that would explain the exclusiveness of clinical expression to the neural system, being in fact a systemic artheriopathy.
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| http://dx.doi.org/10.1016/j.medcli.2009.10.034 | DOI Listing |
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