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  1. Article ; Online: Editorial: Degenerative and cognitive diseases.

    Wallon, David

    Current opinion in neurology

    2024  Volume 37, Issue 2, Page(s) 152–153

    MeSH term(s) Humans ; Cognition Disorders ; Cognition
    Language English
    Publishing date 2024-03-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000001250
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: What contribution can genetics make to predict the risk of Alzheimer's disease?

    Schramm, C / Wallon, D / Nicolas, G / Charbonnier, C

    Revue neurologique

    2022  Volume 178, Issue 5, Page(s) 414–421

    Abstract: Alzheimer's disease (AD) is the most common neurodegenerative disorder. Although its etiology remains incompletely understood, genetic variants are important contributors. The prediction of AD risk through individual genetic variants is an important ... ...

    Abstract Alzheimer's disease (AD) is the most common neurodegenerative disorder. Although its etiology remains incompletely understood, genetic variants are important contributors. The prediction of AD risk through individual genetic variants is an important topic of research that may have individual and societal consequences when preventive treatments will become available. However, the genetic substratum of AD is heterogeneous. In addition to the extremely rare and fully penetrant pathogenic variants of the PSEN1, PSEN2 or APP genes causing autosomal dominant AD, a large spectrum of risk factors have been identified in complex forms, including the common risk factor APOEɛ4, which is associated with a moderate-to-high risk, common polymorphisms associated with a modest individual risk, and a plethora of rare variants in genes like SORL1, TREM2 or ABCA7 with moderate to high-magnitude effect. Understanding how these genetic factors contribute to AD risk in a given individual, in additional to non-genetic factors, remains a challenge. Over the last 10 years, age-related penetrance curves have progressively incorporated advances in the knowledge of AD genetics, from APOE to common polygenic components and, currently, SORL1 rare variants, which represents an important step towards precision medicine in AD. In this review, we present the complex genetic architecture of AD and we expose the prediction of AD risk according to its underlying genetic component.
    MeSH term(s) Alzheimer Disease/diagnosis ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Genetic Predisposition to Disease ; Humans ; LDL-Receptor Related Proteins/genetics ; Membrane Transport Proteins/genetics ; Mutation
    Chemical Substances LDL-Receptor Related Proteins ; Membrane Transport Proteins ; SORL1 protein, human
    Language English
    Publishing date 2022-04-28
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 4593-7
    ISSN 2213-0004 ; 0035-3787
    ISSN (online) 2213-0004
    ISSN 0035-3787
    DOI 10.1016/j.neurol.2022.03.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Unusual case of acute cerebral infarction due to large proximal ICA floating thrombus in the setting of severe COVID-19 infection.

    Hebant, B / Ahtoy, P / Bourre, B / Maltête, D / Wallon, D

    Revue neurologique

    2021  Volume 177, Issue 10, Page(s) 1294–1296

    MeSH term(s) Brain Ischemia ; COVID-19 ; Cerebral Infarction/complications ; Cerebral Infarction/diagnostic imaging ; Humans ; SARS-CoV-2 ; Thrombosis/complications ; Thrombosis/diagnostic imaging
    Language English
    Publishing date 2021-06-16
    Publishing country France
    Document type Case Reports ; Letter
    ZDB-ID 4593-7
    ISSN 2213-0004 ; 0035-3787
    ISSN (online) 2213-0004
    ISSN 0035-3787
    DOI 10.1016/j.neurol.2021.04.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Establishment of induced pluripotent stem cells IRMBi005-A from a patient with sporadic Alzheimer's disease.

    Provost, C Clua / Auboyer, L / Rovelet-Lecrux, A / Monzo, C / Schob, Eliot / Lehmann, S / Wallon, D / Crozet, C

    Stem cell research

    2023  Volume 72, Page(s) 103216

    Abstract: Alzheimer's disease (AD) is a progressive neurological disorder and the most common form of dementia worldwide. Sporadic Alzheimer's disease (sAD) cases are the main forms, over 95% of AD cases, but still poorly understood. Thereby there is a crucial ... ...

    Abstract Alzheimer's disease (AD) is a progressive neurological disorder and the most common form of dementia worldwide. Sporadic Alzheimer's disease (sAD) cases are the main forms, over 95% of AD cases, but still poorly understood. Thereby there is a crucial need to develop in vitro models for studying this multifactorial disorder. Here, we report the reprogramming of skin fibroblasts from a 57-years-old male donor. The new generated iPSC cell line has a normal karyotype and, is pluripotent since it demonstrates the ability to differentiate in vitro into the three germ layers. This iPSC line will be used to understand pathological mechanisms of sAD.
    MeSH term(s) Humans ; Male ; Middle Aged ; Induced Pluripotent Stem Cells/metabolism ; Alzheimer Disease/pathology ; Cell Line ; Fibroblasts/metabolism ; Germ Layers/metabolism ; Cell Differentiation
    Language English
    Publishing date 2023-09-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2023.103216
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Impact of previous statin use on first intracerebral hemorrhage in cerebral amyloid angiopathy.

    Helven, C / Burel, J / Vannier, M / Maltête, D / Ozkul-Wermester, O / Hermary, C / Wallon, D / Grangeon, L

    Revue neurologique

    2023  Volume 179, Issue 10, Page(s) 1074–1080

    Abstract: Objectives: Statins have been associated with an increased risk of spontaneous intracerebral hemorrhage (ICH), but without dedicated study in cerebral amyloid angiopathy (CAA). We aimed to evaluate the association between previous statin treatment and ... ...

    Abstract Objectives: Statins have been associated with an increased risk of spontaneous intracerebral hemorrhage (ICH), but without dedicated study in cerebral amyloid angiopathy (CAA). We aimed to evaluate the association between previous statin treatment and radiological hemorrhagic lesions in a CAA population during a first lobar ICH event.
    Materials and methods: We retrospectively included all patients meeting the modified Boston criteria for probable CAA and admitted for a first lobar ICH between 2010 and 2021 at Rouen University Hospital. Patients were classified as having previous statin treatment or not. We compared the ICH volume, the number of associated cerebral microbleeds (CMBs), and cortical superficial siderosis (CSS) according to previous statin treatment or not. We also compared functional outcomes and ICH recurrence during the follow-up period between the two groups.
    Results: We included 99 patients, 27 of whom had statin treatment prior to their ICH. The ICH volume and the number of CMBs did not differ between groups. Disseminated CSS was initially more frequent in the statin group (88% versus 57%; P=0.019), but this was no longer significant after adjustment for antiplatelet treatment (P=0.13). The long-term outcome was similar between the two groups with no increased risk of ICH recurrence in the statin-treated group (29.63% versus 23.61%, P=0.54).
    Conclusions: Previous statin treatment was not associated with more severe hemorrhagic lesions in CAA in terms of ICH volume or number of microbleeds, but a trend for increased disseminated CSS was highlighted, which will require further larger studies.
    MeSH term(s) Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects ; Retrospective Studies ; Magnetic Resonance Imaging ; Cerebral Hemorrhage/chemically induced ; Cerebral Hemorrhage/diagnostic imaging ; Cerebral Hemorrhage/epidemiology ; Cerebral Amyloid Angiopathy/complications ; Cerebral Amyloid Angiopathy/drug therapy ; Siderosis/complications ; Siderosis/epidemiology ; Siderosis/pathology
    Chemical Substances Hydroxymethylglutaryl-CoA Reductase Inhibitors
    Language English
    Publishing date 2023-08-17
    Publishing country France
    Document type Journal Article
    ZDB-ID 4593-7
    ISSN 2213-0004 ; 0035-3787
    ISSN (online) 2213-0004
    ISSN 0035-3787
    DOI 10.1016/j.neurol.2023.02.071
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Generation of induced pluripotent stem cell lines IRMBi003-A and IRMBi003-B from a healthy donor to model Alzheimer's disease.

    Clua Provost, C / Auboyer, L / Rovelet-Lecrux, A / Monzo, C / Schob, E / Andreux, F / Quittet, C / Lehmann, S / Wallon, D / Crozet, C

    Stem cell research

    2023  Volume 73, Page(s) 103250

    Abstract: Induced Pluripotent Stem Cell (iPSC) lines derived from healthy individuals are helpful and essential tools for disease modelling. Here, we described the reprogramming of skin fibroblasts obtained from a healthy 59-year-old individual without Alzheimer's ...

    Abstract Induced Pluripotent Stem Cell (iPSC) lines derived from healthy individuals are helpful and essential tools for disease modelling. Here, we described the reprogramming of skin fibroblasts obtained from a healthy 59-year-old individual without Alzheimer's disease. The generated iPSC lines have a normal karyotype, expressed pluripotency markers, and demonstrated the ability to differentiate into the three germ layers. The iPSC lines will be used as controls to study Alzheimer's disease mechanisms.
    MeSH term(s) Humans ; Middle Aged ; Induced Pluripotent Stem Cells/metabolism ; Alzheimer Disease/metabolism ; Fibroblasts ; Germ Layers ; Cell Differentiation ; Cellular Reprogramming
    Language English
    Publishing date 2023-11-11
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2023.103250
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Reply: Primary brain calcification due to a homozygous MYORG mutation causing isolated paroxysmal kinesigenic dyskinesia.

    Nicolas, Gaël / Grangeon, Lou / Wallon, David

    Brain : a journal of neurology

    2020  Volume 143, Issue 5, Page(s) e37

    MeSH term(s) Basal Ganglia Diseases ; Brain ; Dystonia ; Humans ; Mutation
    Language English
    Publishing date 2020-04-16
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awaa087
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  8. Article ; Online: Is the clinical phenotype impact the prognosis in dementia with Lewy bodies?

    Aveneau, Clément / Wallon, David / Degos, Bertrand / Obadia, Alexandre / Hourregue, Claire / Benisty, Sarah / Garcin, Béatrice / Dumurgier, Julien / Paquet, Claire

    Alzheimer's research & therapy

    2023  Volume 15, Issue 1, Page(s) 169

    Abstract: Introduction: The first predominant clinical symptoms of dementia with Lewy bodies (DLB) are highly variable; however, the prognosis based on initial predominant symptoms remains poorly understood.: Methods: Multicenter retrospective study in 4 ... ...

    Abstract Introduction: The first predominant clinical symptoms of dementia with Lewy bodies (DLB) are highly variable; however, the prognosis based on initial predominant symptoms remains poorly understood.
    Methods: Multicenter retrospective study in 4 French expert neurological centers. Patients were categorized in 3 groups according to their first more predominant symptoms: cognitive, psychiatric, or motor.
    Results: Analysis of 310 DLB patients. The mean age was 73.5 years old (SD 7.5) including 32.3% of women. The mean follow-up was 7.25 years (SD 3.6). We observed that the full clinical picture was more frequent in the motor group than in the cognitive group (p = 0.01); male gender and age at onset were associated with a significant excess risk of instantaneous mortality (p = 0.01).
    Conclusion: Initial symptoms may affect the clinical course of patients, but no significant difference in mortality was observed.
    MeSH term(s) Humans ; Male ; Female ; Aged ; Lewy Body Disease/diagnosis ; Lewy Body Disease/complications ; Retrospective Studies ; Prognosis ; Age of Onset
    Language English
    Publishing date 2023-10-11
    Publishing country England
    Document type Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2506521-X
    ISSN 1758-9193 ; 1758-9193
    ISSN (online) 1758-9193
    ISSN 1758-9193
    DOI 10.1186/s13195-023-01305-7
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  9. Article ; Online: Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy.

    Nicolas, Gaël / Grangeon, Lou / Wallon, David

    Brain : a journal of neurology

    2019  Volume 142, Issue 9, Page(s) e52

    MeSH term(s) Brain ; Brain Diseases ; Calcinosis ; Homozygote ; Humans ; Nervous System Malformations
    Language English
    Publishing date 2019-07-22
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awz227
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Monogenic inheritance in early-onset dementia: illustration in Alzheimer's disease and frontotemporal lobar dementia.

    Barbier, Mathieu / Wallon, David / Le Ber, Isabelle

    Geriatrie et psychologie neuropsychiatrie du vieillissement

    2018  Volume 16, Issue 3, Page(s) 289–297

    Abstract: Early-onset Alzheimer's disease (EOAD) and frontotemporal lobar dementia (FTLD) account for the majority of early-onset dementia (onset before 65 years). The high frequency of genetic forms is a common feature of EOAD and FTLD. A lot of efforts have been ...

    Title translation Importance des formes monogéniques dans les démences précoces : illustration dans la maladie d’Alzheimer et les démences lobaires frontotemporales.
    Abstract Early-onset Alzheimer's disease (EOAD) and frontotemporal lobar dementia (FTLD) account for the majority of early-onset dementia (onset before 65 years). The high frequency of genetic forms is a common feature of EOAD and FTLD. A lot of efforts have been done to unravel the genetic bases of monogenic forms of these two diseases. PSEN1, APP and PSEN2 are the major causes of monogenic EOAD while GRN, MAPT and C9ORF72 are the most frequently mutated genes in familial FTLD. Besides, the rise of new generation sequencing technologies (NGS) during the last decade allowed a better description of the genetic architecture. A myriad of genes implicated each in a lower number of families with variable penetrance have been highlighted, especially in FTLD. The genetic heterogeneity and it contribution to the clinical variability have been described with more detailed and the process of molecular diagnostic has been modified as well. Here we propose to review old and recent findings about the contribution of genetic factors into these two major early-onset dementia diseases. The impact on the diagnostic and on the knowledge of associated pathophysiological mechanisms is also discussed.
    MeSH term(s) Adult ; Age of Onset ; Alzheimer Disease/diagnosis ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Female ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/epidemiology ; Frontotemporal Dementia/genetics ; Humans ; Male ; Middle Aged ; Mutation ; Nerve Tissue Proteins/genetics ; Pathology, Molecular
    Chemical Substances Nerve Tissue Proteins
    Language English
    Publishing date 2018-08-30
    Publishing country France
    Document type Journal Article ; Review
    ISSN 2115-7863
    ISSN (online) 2115-7863
    DOI 10.1684/pnv.2018.0744
    Database MEDical Literature Analysis and Retrieval System OnLINE

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