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8 results on '"De Septenville A"'

5. Posterior cortical atrophy as an extreme phenotype of GRN mutations

Author

Agnès Camuzat, Isabelle Le Ber, Fabienne Clot, Catherine Belin, Bruno Dubois, Foudil Lamari, Paola Caroppo, Didier Maillet, David Grabli, Alexis Brice, Raffaella Migliaccio, and Anne de Septenville

Subjects
Male, Pathology, medicine.medical_specialty, Atrophy, Progranulins, medicine, Posterior cortical atrophy syndrome, Humans, Cerebral atrophy, Cerebral Cortex, Posterior cortical atrophy, Neurodegenerative Diseases, Frontotemporal lobar degeneration, Syndrome, Middle Aged, medicine.disease, Apperceptive agnosia, Pedigree, Phenotype, Mutation, Intercellular Signaling Peptides and Proteins, Neurology (clinical), Alzheimer's disease, Psychology, Neuroscience, Frontotemporal dementia
Abstract

Importance Posterior cortical atrophy (PCA) is characterized by progressive visuoperceptual and visuospatial deficits and commonly considered to be an atypical variant of Alzheimer disease. Mutations of the GRN gene are responsible for a large phenotypic spectrum, but, to our knowledge, the association of PCA with GRN mutations has never been described. Observations We studied a patient presenting with insidious impairment of basic visuoperceptual skills and apperceptive visual agnosia with predominant posterior atrophy corresponding to a visual/ventral variant of PCA. A heterozygous p.Arg110* (c.328C>T) GRN mutation was identified in this patient. Conclusions and Relevance This study extends the clinical spectrum of GRN mutations that may be responsible for a PCA phenotype. The GRN phenotypes overlap other degenerative dementias and highlight the limits of actual nosologic boundaries in dementias. The GRN gene should be analyzed in patients with PCA, particularly when the damage progresses to anterior cerebral regions and a family history of dementia is present.

Published
2014

6. Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin

Author

Isabelle Le Ber, Foudil Lamari, Didier Hannequin, Lionel Naccache, Fabienne Clot, Anne de Septenville, Alexis Brice, Anne Bertrand, Serge Belliard, Olivier Colliot, Paola Caroppo, Agnès Camuzat, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Service d'Explorations Fonctionnelles Neurologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Service de Neurophysiologie Clinique [CHU Pitié-Salpêtrière], Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], GRC Neurométabolisme, Université Pierre et Marie Curie - Paris 6 (UPMC), Algorithms, models and methods for images and signals of the human brain (ARAMIS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Service de Neuroradiologie [CHU Pitié-Salpêtrière], Service de Neurologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Neuropsychologie cognitive et neuroanatomie fonctionnelles de la mémoire humaine, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neurophysiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, Service de Neurologie [Rennes] = Neurology [Rennes], CHU Pontchaillou [Rennes], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Inria de Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Normandie Université (NU)-Normandie Université (NU)-École Pratique des Hautes Études (EPHE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris

Subjects
Male, Pathology, medicine.medical_specialty, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, MESH: Cerebrum, MESH: Atrophy, White matter, Atrophy, Progranulins, mental disorders, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Dementia, Humans, MESH: Intercellular Signaling Peptides and Proteins, Cerebrum, Aged, Cerebral atrophy, MESH: Aged, MESH: Humans, MESH: Middle Aged, business.industry, Parietal lobe, [INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], Frontotemporal lobar degeneration, Middle Aged, medicine.disease, White Matter, Hyperintensity, MESH: Male, medicine.anatomical_structure, MESH: White Matter, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], Intercellular Signaling Peptides and Proteins, Neurology (clinical), MESH: Frontotemporal Lobar Degeneration, Frontotemporal Lobar Degeneration, Haploinsufficiency, business, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing
Abstract

International audience; Mutations in the progranulin (GRN) gene are responsible for 20% of familial cases of frontotemporal dementias. All cause haploinsufficiency of progranulin, a protein involved in inflammation, tissue repair, and cancer. Carriers of the GRN mutation are characterized by a variable degree of asymmetric brain atrophy, predominantly in the frontal, temporal, and parietal lobes. We describe 4 GRN mutation carriers with remarkable widespread white matter lesions (WML) associated with lobar atrophy shown on magnetic resonance imaging.; Four GRN mutation carriers (age at onset, 56-65 years) presenting with severe WML were selected from 31 GRN mutation carriers who were followed up in our dementia centers. The WML were predominantly in the frontal and parietal lobes and were mostly confluent, affecting the periventricular subcortical white matter and U-fibers. In all patients, common vascular, metabolic, inflammatory, dysimmune, and mitochondrial disorders were excluded and none had severe vascular risk factors.; Our data suggest that white matter involvement may be linked to progranulin pathological processes in a subset of GRN mutation carriers. The plasma progranulin measurement, which is predictive of GRN mutations, and GRN sequencing should thus be included in investigations of patients with frontotemporal lobar degenerations who show unusual white matter hyperintensities and atrophy on magnetic resonance imaging.

Published
2014

7. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis

Author

Audrey Gabelle, Isabelle Le Ber, Kawtar Bouya-Ahmed, Stéphanie Millecamps, Timothée Lenglet, Agnès Camuzat, Morwena Latouche, Alexis Brice, Didier Hannequin, John Hardy, Mira Didic, Edor Kabashi, Dominique Campion, Jose Bras, Anne de Septenville, Rita Guerreiro, and Gaël Nicolas

Subjects
Oncology, Proband, Male, medicine.medical_specialty, Pathology, Guanine, Neuropsychological Tests, medicine.disease_cause, Article, Cohort Studies, Internal medicine, mental disorders, Sequestosome-1 Protein, Medicine, Missense mutation, Humans, Amyotrophic lateral sclerosis, Adaptor Proteins, Signal Transducing, Aged, Family Health, Tomography, Emission-Computed, Single-Photon, Mutation, business.industry, Amyotrophic Lateral Sclerosis, nutritional and metabolic diseases, Brain, Organotechnetium Compounds, Middle Aged, medicine.disease, Penetrance, Magnetic Resonance Imaging, nervous system diseases, Frontotemporal Dementia, Cohort, Female, Neurology (clinical), France, business, Cohort study, Frontotemporal dementia
Abstract

Importance Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD. Objective To evaluate the exact contribution of SQSTM1 to FTD and FTD with ALS (FTD-ALS) in an independent cohort of patients. Design A SQSTM1 mutation was first identified in a multiplex family with FTD by use of whole-exome sequencing. To evaluate the frequency of SQSTM1 mutations, we sequenced this gene in a cohort of patients with FTD or FTD-ALS, with no mutations in known FTD and ALS genes. Setting Primary care or referral center. Participants An overall cohort of 188 French patients, including 132 probands with FTD and 56 probands with FTD-ALS. Main Outcomes and Measures Frequency of SQSTM1 mutations in patients with FTD or FTD-ALS; description of associated phenotypes. Results We identified 4 heterozygous missense mutations in 4 unrelated families with FTD; only 1 family had clinical symptoms of Paget disease of bone, and only 1 family had clinical symptoms of FTD-ALS, possibly owing to the low penetrance of some of the clinical manifestations. Conclusions and Relevance Although the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD.

Published
2013

8. DCTN1Mutation Analysis in Families With Progressive Supranuclear Palsy–Like Phenotypes

Author

Caroppo, Paola, primary, Le Ber, Isabelle, additional, Clot, Fabienne, additional, Rivaud-Péchoux, Sophie, additional, Camuzat, Agnès, additional, De Septenville, Anne, additional, Boutoleau-Bretonnière, Claire, additional, Mourlon, Vanessa, additional, Sauvée, Mathilde, additional, Lebouvier, Thibaud, additional, Bonnet, Anne-Marie, additional, Levy, Richard, additional, Vercelletto, Martine, additional, and Brice, Alexis, additional

Published
2014
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