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A Review of the Article Cadasil

Saleena Resheed

Abstract


Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare hereditary small vessel disease of the brain caused by mutations in the NOTCH3 gene. Recurrent ischemic strokes, cognitive impairment, aura-accompanied migraines, mood swings, and progressive dementia are its hallmarks. Because of its inconsistent clinical presentation, CADASIL is still underdiagnosed despite growing awareness.


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References


Chabriat, H., Joutel, A., Dichgans, M., Tournier-Lasserve, E., & Bousser, M. G. (2009). CADASIL. The Lancet Neurology, 8(7), 643–653. https://doi.org/10.1016/S1474-4422(09)70127-9

Kalimo, H., Ruchoux, M. M., Viitanen, M., & Kalaria, R. N. (2002). CADASIL: A common form of hereditary arteriopathy causing brain infarcts and dementia. Brain Pathology, 12(3), 371–384. https://doi.org/10.1111/j.1750-3639.2002.tb00457.x

Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., et al. (1996). Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature, 383(6602), 707–710. https://doi.org/10.1038/383707a0

Dichgans, M., Mayer, M., Uttner, I., Brüning, R., Müller-Höcker, J., Rungger, G., et al. (1998). The phenotypic spectrum of CADASIL: Clinical findings in 102 cases. Annals of Neurology, 44(5), 731–739. https://doi.org/10.1002/ana.410440508

Singhal, S., Bevan, S., Barrick, T., Widjaja, E., Hurford, P., Meschia, J., et al. (2005). The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain, 128(9), 2031–2038. https://doi.org/10.1093/brain/awh529

Love, S., & Louis, D. N. (Eds.). (2018). Greenfield’s neuropathology (9th ed.). CRC Press.

Roos, R. A. C., & Joutel, A. (2020). CADASIL and other hereditary small vessel diseases. In S. Gilman (Ed.), Neurobiology of disease (2nd ed.). Academic Press.

American Academy of Neurology. (2022). Practice guideline: Evaluation and management of CADASIL [Internet]. https://www.aan.com/Guidelines/home/GetGuidelineContent/729

Orphanet. (2021). CADASIL - Orphanet [Internet]. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=834

National Library of Medicine. (2023). CADASIL - Genetics Home Reference [Internet]. https://medlineplus.gov/genetics/condition/cadasil/

Tournier-Lasserve, E., & Joutel, A. (1993–2025). CADASIL. In M. P. Adam, G. M. Mirzaa, R. A. Pagon, et al. (Eds.), GeneReviews® [Internet]. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1500/


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