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Clinical and Genetic Aspects of CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by mutations in NOTCH3, is characterized by recurrent stroke without vascular risk factors, mood disturbances, and dementia. MRI imaging shows cereb...

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Autores principales: Mizuno, Toshiki, Mizuta, Ikuko, Watanabe-Hosomi, Akiko, Mukai, Mao, Koizumi, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7224236/
https://www.ncbi.nlm.nih.gov/pubmed/32457593
http://dx.doi.org/10.3389/fnagi.2020.00091
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author Mizuno, Toshiki
Mizuta, Ikuko
Watanabe-Hosomi, Akiko
Mukai, Mao
Koizumi, Takashi
author_facet Mizuno, Toshiki
Mizuta, Ikuko
Watanabe-Hosomi, Akiko
Mukai, Mao
Koizumi, Takashi
author_sort Mizuno, Toshiki
collection PubMed
description Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by mutations in NOTCH3, is characterized by recurrent stroke without vascular risk factors, mood disturbances, and dementia. MRI imaging shows cerebral white matter (WM) hyperintensity, particularly in the external capsule and temporal pole. Missense mutations related to a cysteine residue in the 34 EGFr on the NOTCH3 extracellular domain (N3ECD) are a typical mutation of CADASIL. On the other hand, atypical mutations including cysteine sparing mutation, null mutation, homozygous mutation, and other associate genes are also reported. From the viewpoint of gain of function apart from Notch signaling or loss of function of Notch signaling, we review the research article about CADASIL and summarized the pathogenesis of small vessel, stroke, and dementia in this disease.
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spelling pubmed-72242362020-05-25 Clinical and Genetic Aspects of CADASIL Mizuno, Toshiki Mizuta, Ikuko Watanabe-Hosomi, Akiko Mukai, Mao Koizumi, Takashi Front Aging Neurosci Neuroscience Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by mutations in NOTCH3, is characterized by recurrent stroke without vascular risk factors, mood disturbances, and dementia. MRI imaging shows cerebral white matter (WM) hyperintensity, particularly in the external capsule and temporal pole. Missense mutations related to a cysteine residue in the 34 EGFr on the NOTCH3 extracellular domain (N3ECD) are a typical mutation of CADASIL. On the other hand, atypical mutations including cysteine sparing mutation, null mutation, homozygous mutation, and other associate genes are also reported. From the viewpoint of gain of function apart from Notch signaling or loss of function of Notch signaling, we review the research article about CADASIL and summarized the pathogenesis of small vessel, stroke, and dementia in this disease. Frontiers Media S.A. 2020-05-07 /pmc/articles/PMC7224236/ /pubmed/32457593 http://dx.doi.org/10.3389/fnagi.2020.00091 Text en Copyright © 2020 Mizuno, Mizuta, Watanabe-Hosomi, Mukai and Koizumi. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Mizuno, Toshiki
Mizuta, Ikuko
Watanabe-Hosomi, Akiko
Mukai, Mao
Koizumi, Takashi
Clinical and Genetic Aspects of CADASIL
title Clinical and Genetic Aspects of CADASIL
title_full Clinical and Genetic Aspects of CADASIL
title_fullStr Clinical and Genetic Aspects of CADASIL
title_full_unstemmed Clinical and Genetic Aspects of CADASIL
title_short Clinical and Genetic Aspects of CADASIL
title_sort clinical and genetic aspects of cadasil
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7224236/
https://www.ncbi.nlm.nih.gov/pubmed/32457593
http://dx.doi.org/10.3389/fnagi.2020.00091
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