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EMBnet J. 2019;24. pii: e921. doi: 10.14806/ej.24.0.921. Epub 2019 May 22.

NOTCH3 and CADASIL syndrome: a genetic and structural overview.

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Laboratory of Genetics, Department of Biotechnology, School of Food, Biotechnology and Development, Agricultural University of Athens, Athens, Greece.
Lab of Molecular Endocrinology, Center of Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
Center for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
1st Department of Ophthalmology, National and Kapodistrian University of Athens, Athens, Greece.
Computer Engineering and Informatics Department, School of Engineering, University of Patras, Patras, Greece.
CNR Institute for Biomedical Technologies, Bari, Italy.
SLU-Global Bioinformatics Centre, Department of Animal Breeding and Genetics Science, University of Agricultural Sciences, Uppsala, Sweden.
Department of Informatics, Faculty of Natural and Mathematical Sciences, King's College London, London, United Kingdom.


CADASIL syndrome is a rare disease that belongs to a group of disorders called leukodystrophies. It is well established that NOTCH3 gene on chromosome 19 is primarily responsible for the development of the CADASIL syndrome. Herein, an attempt is made to shed light on the actual molecular mechanism underlying CADASIL syndrome, through insights extracted from comprehensive evolutionary studies and in silico modelling on Notch 3 protein. In particular, we suggest the use of optical coherence tomography angiography for the detection of early signs of small vessel diseases, which are the major precursors to a repertoire of neurodegenerative conditions, including CADASIL.

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