Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Jun 2020
Historique:
received: 07 01 2020
accepted: 02 04 2020
entrez: 26 6 2020
pubmed: 26 6 2020
medline: 26 6 2020
Statut: epublish

Résumé

The aim of this study was to evaluate the correlation between the various Here, we describe the phenotype of a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) harboring a novel mutation. We also performed an extensive literature research for Our patient harbored a novel mutation in the The collection and analysis of these scarce data published since the identification of

Identifiants

DOI: 10.1212/NXG.0000000000000434 PMID: 32582863 PMC: PMC7238894
pubmed: 32582863
doi: 10.1212/NXG.0000000000000434
pii: NG2020013011
pmc: PMC7238894
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

e434

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Georgia Xiromerisiou (G)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Chrysoula Marogianni (C)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Katerina Dadouli (K)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Christina Zompola (C)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Despoina Georgouli (D)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Antonios Provatas (A)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Aikaterini Theodorou (A)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Paschalis Zervas (P)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Christina Nikolaidou (C)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Stergios Stergiou (S)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Panagiotis Ntellas (P)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Maria Sokratous (M)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Pantelis Stathis (P)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Georgios P Paraskevas (GP)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Anastasios Bonakis (A)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Konstantinos Voumvourakis (K)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Christos Hadjichristodoulou (C)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Georgios M Hadjigeorgiou (GM)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.
ORCID: 0000-0001-5386-4273

Georgios Tsivgoulis (G)

Department of Neurology (G.X., C.M., D.G., A.P., M.S., G.M.H.), University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece; Second Department of Neurology (C.Z., A.T., P.Z., A.B., K.V., G.T.), "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece; Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Cyprus; Department of Hygiene and Epidemiology (K.D., C.H.), Faculty of Medicine, University of Thessaly, Larissa, Greece; Department of Medical Oncology (P.N.), University Hospital of Ioannina, Ioannina, Greece; Department of Neurology (P.S.), Mediterraneo Hospital, Glyfada, Athens, Greece; Histopathological Department (C.N., S.S.), Hippokration General Hospital Thessaloniki; and Department of Neurology (G.P.P.), School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.

Classifications MeSH