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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited and autosomal dominant arteriopathy of the cerebral vasculature, which is commonly misdiagnosed due to its different modes of presentation. It is characteri...

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Autores principales: Ashraf, Shoaib, Allena, Nishant, Shrestha, Elina, Dhallu, Manjeet, Khaja, Misbahuddin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9711886/
https://www.ncbi.nlm.nih.gov/pubmed/36465750
http://dx.doi.org/10.7759/cureus.30940
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author Ashraf, Shoaib
Allena, Nishant
Shrestha, Elina
Dhallu, Manjeet
Khaja, Misbahuddin
author_facet Ashraf, Shoaib
Allena, Nishant
Shrestha, Elina
Dhallu, Manjeet
Khaja, Misbahuddin
author_sort Ashraf, Shoaib
collection PubMed
description Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited and autosomal dominant arteriopathy of the cerebral vasculature, which is commonly misdiagnosed due to its different modes of presentation. It is characterized by variable manifestations of ischemic episodes, migraine with aura, cognitive deficits, and psychiatric disturbances. CADASIL is caused by a genetic mutation in the NOTCH3 gene, which is present on chromosome 19. The diagnosis of CADASIL can be made by personal and family history, skin biopsy, and magnetic resonance imaging (MRI) of the head showing high-intensity signal lesions, microbleeds, and white matter changes. There are currently no disease-modifying therapies available for CADASIL, and management focuses on reducing risk factors such as diabetes and hypertension and control of symptoms. We present a rare cause of transient ischemic attack (TIA) in a young female who was later diagnosed with CADASIL and aim to highlight rare and inherited causes of TIA and strokes in younger patients.
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spelling pubmed-97118862022-12-02 Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack Ashraf, Shoaib Allena, Nishant Shrestha, Elina Dhallu, Manjeet Khaja, Misbahuddin Cureus Genetics Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited and autosomal dominant arteriopathy of the cerebral vasculature, which is commonly misdiagnosed due to its different modes of presentation. It is characterized by variable manifestations of ischemic episodes, migraine with aura, cognitive deficits, and psychiatric disturbances. CADASIL is caused by a genetic mutation in the NOTCH3 gene, which is present on chromosome 19. The diagnosis of CADASIL can be made by personal and family history, skin biopsy, and magnetic resonance imaging (MRI) of the head showing high-intensity signal lesions, microbleeds, and white matter changes. There are currently no disease-modifying therapies available for CADASIL, and management focuses on reducing risk factors such as diabetes and hypertension and control of symptoms. We present a rare cause of transient ischemic attack (TIA) in a young female who was later diagnosed with CADASIL and aim to highlight rare and inherited causes of TIA and strokes in younger patients. Cureus 2022-10-31 /pmc/articles/PMC9711886/ /pubmed/36465750 http://dx.doi.org/10.7759/cureus.30940 Text en Copyright © 2022, Ashraf et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Ashraf, Shoaib
Allena, Nishant
Shrestha, Elina
Dhallu, Manjeet
Khaja, Misbahuddin
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack
title Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack
title_full Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack
title_fullStr Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack
title_full_unstemmed Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack
title_short Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Rare Cause of Transient Ischemic Attack
title_sort cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil): a rare cause of transient ischemic attack
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9711886/
https://www.ncbi.nlm.nih.gov/pubmed/36465750
http://dx.doi.org/10.7759/cureus.30940
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