Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1783533863889272832 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7224236 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT mizunotoshiki clinicalandgeneticaspectsofcadasil AT mizutaikuko clinicalandgeneticaspectsofcadasil AT watanabehosomiakiko clinicalandgeneticaspectsofcadasil AT mukaimao clinicalandgeneticaspectsofcadasil AT koizumitakashi clinicalandgeneticaspectsofcadasil |