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Article ; Online: Editorial: Degenerative and cognitive diseases.

Wallon, David

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
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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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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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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
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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
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Article ; Online: Applicability of the Edinburgh CT Criteria for Lobar Intracerebral Hemorrhage Associated with Cerebral Amyloid Angiopathy.

Grangeon, Lou / Roussel, Melanie / Gillibert, Andre / Verdalle-Cazes, Mikael / Dolores, Mickael / Ozkul-Wermester, Ozlem / Gilard, Vianney / Derrey, Stephane / Maltête, David / Gerardin, Emmanuel / Joly, Luc-Marie / Wallon, David / Magne, Nicolas

Clinical neuroradiology

2023 Volume 33, Issue 2, Page(s) 455–465

Abstract: Objective: Based on histopathology, Edinburgh diagnostic criteria were proposed to consider a nontraumatic intracerebral lobar hemorrhage (ICH) as related to cerebral amyloid angiopathy (CAA) using the initial computed tomography (CT) scan and the APOE ... ...

Abstract	Objective: Based on histopathology, Edinburgh diagnostic criteria were proposed to consider a nontraumatic intracerebral lobar hemorrhage (ICH) as related to cerebral amyloid angiopathy (CAA) using the initial computed tomography (CT) scan and the APOE genetic status. We aimed to externally validate the Edinburgh prediction model, excluding the APOE genotyping and based on the modified Boston criteria on the MRI for CAA diagnosis METHODS: We included patients admitted for spontaneous lobar ICH in the emergency department between 2016 and 2019 who underwent noncontrast CT scan and MRI. According to the MRI, patients were classified into the CAA group or into the non-CAA group in the case of other causes of ICH. Two neuroradiologists, blinded to the final retained diagnosis, rated each radiological feature on initial CT scan described in the Edinburgh study on initial CT scan RESULTS: A total of 102 patients were included, of whom 36 were classified in the CAA group, 46 in the non-CAA causes group and 20 of undetermined cause (excluded from the primary analysis). The Edinburgh prediction model, including finger-like projections and subarachnoid extension showed an area under receiver operating characteristic curves (AUC) of 0.760 (95% confidence interval, CI: 0.660-0.859) for the diagnosis of CAA. The AUC reached 0.808 (95% CI: 0.714-0.901) in a new prediction model integrating a third radiologic variable: the ICH cortical involvement. Conclusion: Using the Boston MRI criteria as a final assessment, we provided a new external confirmation of the radiological Edinburgh CT criteria, which are directly applicable in acute settings of spontaneous lobar ICH and further proposed an original 3‑set model considering finger-like projections, subarachnoid extension, and cortical involvement that may achieve a high discrimination performance.
MeSH term(s)	Humans ; Cerebral Hemorrhage/diagnostic imaging ; Cerebral Hemorrhage/etiology ; Cerebral Amyloid Angiopathy/complications ; Cerebral Amyloid Angiopathy/diagnostic imaging ; Tomography, X-Ray Computed ; Magnetic Resonance Imaging ; Apolipoproteins E/genetics
Chemical Substances	Apolipoproteins E
Language	English
Publishing date	2023-01-04
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2234662-4
ISSN	1869-1447 ; 0939-7116 ; 1869-1439
ISSN (online)	1869-1447
ISSN	0939-7116 ; 1869-1439
DOI	10.1007/s00062-022-01230-6
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Article ; Online: Association of Amyotrophic Lateral Sclerosis and Alzheimer's Disease: New Entity or Coincidence? A Case Series.

Vrillon, Agathe / Deramecourt, Vincent / Pasquier, Florence / Magnin, Éloi / Wallon, David / Lozeron, Pierre / Bouaziz-Amar, Élodie / Paquet, Claire

Journal of Alzheimer's disease : JAD

2021 Volume 84, Issue 4, Page(s) 1439–1446

Abstract: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia have a strong clinical, genetic, and pathological connection but association of ALS with Alzheimer's disease (AD) is seldom reported. We report a series of 5 cases of AD associated with ALS. ...

Abstract	Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia have a strong clinical, genetic, and pathological connection but association of ALS with Alzheimer's disease (AD) is seldom reported. We report a series of 5 cases of AD associated with ALS. Our patients presented with cognitive deterioration with episodic memory impairment meeting criteria for AD. ALS occurred subsequently in all cases and its phenotype was not homogenous. Amyloid process was confirmed in four cases with cerebrospinal fluid biomarkers. One case underwent postmortem exam, demonstrating hallmarks lesions of both diseases. This series highlights that ALS-AD phenotype could be a specific underexplored entity.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/pathology ; Amyloid/cerebrospinal fluid ; Amyotrophic Lateral Sclerosis/pathology ; Biomarkers/cerebrospinal fluid ; Brain/pathology ; Cognition Disorders/pathology ; Female ; Humans ; Male ; Memory Disorders/pathology ; Neuropsychological Tests/statistics & numerical data
Chemical Substances	Amyloid ; Biomarkers
Language	English
Publishing date	2021-10-07
Publishing country	Netherlands
Document type	Case Reports ; Letter
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-215226
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Article ; Online: MRI findings in a case of Lissauer form of neurosyphilis.

Faraut, Elise / Wallon, David / Gueit, Elisabeth / Chapuzet, Claire / Lefaucheur, Romain

Acta neurologica Belgica

2017 Volume 118, Issue 1, Page(s) 113–114

MeSH term(s)	Adult ; Anti-Bacterial Agents/therapeutic use ; Brain/diagnostic imaging ; Brain/drug effects ; Humans ; Magnetic Resonance Imaging ; Male ; Neurosyphilis/diagnostic imaging ; Neurosyphilis/drug therapy ; Penicillin G/therapeutic use ; White Matter/diagnostic imaging ; White Matter/drug effects
Chemical Substances	Anti-Bacterial Agents ; Penicillin G (Q42T66VG0C)
Language	English
Publishing date	2017-09-22
Publishing country	Italy
Document type	Case Reports ; Journal Article
ZDB-ID	127315-2
ISSN	2240-2993 ; 0300-9009
ISSN (online)	2240-2993
ISSN	0300-9009
DOI	10.1007/s13760-017-0833-4
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Article ; Online: Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.

Miguel, Laetitia / Rovelet-Lecrux, Anne / Chambon, Pascal / Joly-Helas, Géraldine / Rousseau, Stéphane / Wallon, David / Epelbaum, Stéphane / Frébourg, Thierry / Campion, Dominique / Nicolas, Gaël / Lecourtois, Magalie

Stem cell research

2022 Volume 61, Page(s) 102762

Abstract: Tau proteins belong to the microtubule associated protein family and are mainly expressed in neurons. Tau accumulates in patients' brain in several neurodegenerative diseases, including Fronto-temporal dementia and Alzheimer's disease. Recently, we ... ...

Abstract	Tau proteins belong to the microtubule associated protein family and are mainly expressed in neurons. Tau accumulates in patients' brain in several neurodegenerative diseases, including Fronto-temporal dementia and Alzheimer's disease. Recently, we described a 17q21.31 duplication in patients presenting different cognitive or motor symptoms and characterized by the accumulation of different Tau isoforms. This duplication involves four genes, including the MAPT gene that encodes the Tau protein. The main pathophysiological consequence associated with this duplication was a 1.6-1.9-fold increase in the MAPT messenger RNA as measured in blood samples of duplication carriers. However, the pathophysiological consequences of this duplication in a cell type relevant for neurodegenerative diseases have never been explored so far. In this study, we developed the first model of primary tauopathy linked to a 17q21.31 duplication in iPSC-induced neurons from 2 unrelated carriers. As in patients' blood, we demonstrated that this duplication was associated with an increase in MAPT mRNA resulting in elevated Tau protein levels in iPSC-derived cortical neurons. We believe that these iPSC lines will be a pertinent tool to elucidate how a same genetic cause could lead to distinct types of tauopathies and the pathophysiological mechanisms associated with Tau-mediated neurodegeneration in the 17q21.31 duplication context.
MeSH term(s)	Humans ; Induced Pluripotent Stem Cells/metabolism ; Neurodegenerative Diseases/metabolism ; Neurons/metabolism ; Tauopathies/genetics ; Tauopathies/metabolism ; tau Proteins/genetics ; tau Proteins/metabolism
Chemical Substances	tau Proteins
Language	English
Publishing date	2022-03-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2393143-7
ISSN	1876-7753 ; 1873-5061
ISSN (online)	1876-7753
ISSN	1873-5061
DOI	10.1016/j.scr.2022.102762
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Article ; Online: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Schramm, Catherine / Charbonnier, Camille / Zaréa, Aline / Lacour, Morgane / Wallon, David / Boland, Anne / Deleuze, Jean-François / Olaso, Robert / Alarcon, Flora / Campion, Dominique / Nuel, Grégory / Nicolas, Gaël

Genome medicine

2022 Volume 14, Issue 1, Page(s) 69

Abstract: Background: Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative ... ...

Abstract	Background: Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative use for genetic counseling or preventive trials. However, relative rarity and co-occurrence with the main AD risk factor, APOE-ε4, make such estimations difficult. Methods: We proposed to estimate the age-related penetrance of SORL1-LoF variants through a survival framework by estimating the conditional instantaneous risk combining (i) a baseline for non-carriers of SORL1-LoF variants, stratified by APOE-ε4, derived from the Rotterdam study (N = 12,255), and (ii) an age-dependent proportional hazard effect for SORL1-LoF variants estimated from 27 extended pedigrees (including 307 relatives ≥ 40 years old, 45 of them having genotyping information) recruited from the French reference center for young Alzheimer patients. We embedded this model into an expectation-maximization algorithm to accommodate for missing genotypes. To correct for ascertainment bias, proband phenotypes were omitted. Then, we assessed if our penetrance curves were concordant with age distributions of APOE-ε4-stratified SORL1-LoF variant carriers detected among sequencing data of 13,007 cases and 10,182 controls from European and American case-control study consortia. Results: SORL1-LoF variants penetrance curves reached 100% (95% confidence interval [99-100%]) by age 70 among APOE-ε4ε4 carriers only, compared with 56% [40-72%] and 37% [26-51%] in ε4 heterozygous carriers and ε4 non-carriers, respectively. These estimates were fully consistent with observed age distributions of SORL1-LoF variant carriers in case-control study data. Conclusions: We conclude that SORL1-LoF variants should be interpreted in light of APOE genotypes for future clinical applications.
MeSH term(s)	Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Case-Control Studies ; Genotype ; Humans ; LDL-Receptor Related Proteins/genetics ; Membrane Transport Proteins/genetics ; Penetrance
Chemical Substances	ApoE protein, human ; Apolipoproteins E ; LDL-Receptor Related Proteins ; Membrane Transport Proteins ; SORL1 protein, human
Language	English
Publishing date	2022-06-28
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2484394-5
ISSN	1756-994X ; 1756-994X
ISSN (online)	1756-994X
ISSN	1756-994X
DOI	10.1186/s13073-022-01070-6
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