CADASIL: An overview of a rare cerebrovascular disease
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| Natura: | Recurso digital |
| Lingua: | inglese |
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Zenodo
2025
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| author | Parra-Zamudio, Luis Angel De La Gurrola-Olmos, Laura Cecilia Mendiola-Egure, David Remigio Piedra-Naranjo, María José Zatarain-Moncada, Emily Rocio Lazalde, Brissia |
| author_facet | Parra-Zamudio, Luis Angel De La Gurrola-Olmos, Laura Cecilia Mendiola-Egure, David Remigio Piedra-Naranjo, María José Zatarain-Moncada, Emily Rocio Lazalde, Brissia |
| contents | <div>The Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) it’s a genetic disorder that affects the small blood vessels in the brain for a pathological variant in the <em>NOTCH3</em> gene, located on chromosome 19. It is of great interest to know its correct diagnosis based on expression and variable clinical symptomatology due to episodes of migraine, dementia, cerebral ischemic episodes, psychiatric disorders and motor difficulties. Factors involved in the differential diagnosis of this genetic disorder will be discussed, based on general international criteria like Neuroimaging Findings and Genetic Testing. In addition, its clinical manifestations will be analyzed in various patient contexts to identify specific features related to individual genetic variations.</div> |
| format | Recurso digital |
| id | zenodo_https___doi_org_10_5281_zenodo_17197852 |
| institution | Zenodo |
| language | eng |
| publishDate | 2025 |
| publisher | Zenodo |
| record_format | zenodo |
| spellingShingle | CADASIL: An overview of a rare cerebrovascular disease Parra-Zamudio, Luis Angel De La Gurrola-Olmos, Laura Cecilia Mendiola-Egure, David Remigio Piedra-Naranjo, María José Zatarain-Moncada, Emily Rocio Lazalde, Brissia Hereditary cerebral arteriopathy NOTCH3 gene mutations Recurrent subcortical strokes Progressive chronic leukoencephalopathy CADASIL Variable neuropsychiatric symptoms <div>The Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) it’s a genetic disorder that affects the small blood vessels in the brain for a pathological variant in the <em>NOTCH3</em> gene, located on chromosome 19. It is of great interest to know its correct diagnosis based on expression and variable clinical symptomatology due to episodes of migraine, dementia, cerebral ischemic episodes, psychiatric disorders and motor difficulties. Factors involved in the differential diagnosis of this genetic disorder will be discussed, based on general international criteria like Neuroimaging Findings and Genetic Testing. In addition, its clinical manifestations will be analyzed in various patient contexts to identify specific features related to individual genetic variations.</div> |
| title | CADASIL: An overview of a rare cerebrovascular disease |
| topic | Hereditary cerebral arteriopathy NOTCH3 gene mutations Recurrent subcortical strokes Progressive chronic leukoencephalopathy CADASIL Variable neuropsychiatric symptoms |
| url | https://doi.org/10.5281/zenodo.17197852 |