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1. Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

Author

Abraham Andreu-Cervera, Martin Catala, and Sylvie Schneider-Maunoury

Subjects
Forebrain, Cerebral cortex, Brain development, Primary cilia, Sonic hedgehog, Gli transcription factor, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline structures of the forebrain and face. The Shh pathway requires functional primary cilia, microtubule-based organelles present on virtually every cell and acting as cellular antennae to receive and transduce diverse chemical, mechanical or light signals. The dysfunction of cilia in humans leads to inherited diseases called ciliopathies, which often affect many organs and show diverse manifestations including forebrain malformations for the most severe forms.The purpose of this review is to provide the reader with a framework to understand the developmental origin of the forebrain defects observed in severe ciliopathies with respect to perturbations of the Shh pathway. We propose that many of these defects can be interpreted as an imbalance in the ratio of activator to repressor forms of the Gli transcription factors, which are effectors of the Shh pathway.We also discuss the complexity of ciliopathies and their relationships with forebrain disorders such as holoprosencephaly or malformations of cortical development, and emphasize the need for a closer examination of forebrain defects in ciliopathies, not only through the lens of animal models but also taking advantage of the increasing potential of the research on human tissues and organoids.

Published
2021
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2. The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

Author

Giorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, Anthony Behin, Tanya Stojkovic, François Salachas, David Devos, Nadine Le Forestier, Maria del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meninger, Gaëlle Bruneteau, Julien Cohen-Adad, Stéphane Lehéricy, Pascal Laforêt, Sophie Blancho, Habib Benali, Martin Catala, Menghan Li, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Peter Bede, and Pierre-François Pradat

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429
Abstract

Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the characterisation of spinal and cerebral pathology in adult forms of SMA using multimodal quantitative imaging. Methods: Twenty-five type III and IV adult SMA patients and 25 age-matched healthy controls were enrolled in a spinal cord and brain imaging study. Structural measures of grey and white matter involvement and diffusion parameters of white matter integrity were evaluated at each cervical spinal level. Whole-brain and region-of-interest analyses were also conducted in the brain to explore cortical thickness, grey matter density and tract-based white matter alterations. Results: In the spinal cord, considerable grey matter atrophy was detected between C2-C6 vertebral levels. In the brain, increased grey matter density was detected in motor and extra-motor regions of SMA patients. No white matter pathology was identified neither at brain and spinal level. Conclusions: Adult forms of SMA are associated with selective grey matter degeneration in the spinal cord with preserved white matter integrity. The observed increased grey matter density in the motor cortex may represent adaptive reorganisation. Keywords: Spinal muscular atrophy, SMA, Multimodal MRI, Spinal cord MRI, Grey matter and white matter degeneration

Published
2019
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3. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the 'Mowat–Wilson' syndrome

Author

Guillaume Bassez, Olivier J.A Camand, Valère Cacheux, Alexandra Kobetz, Florence Dastot-Le Moal, Dominique Marchant, Martin Catala, Marc Abitbol, and Michel Goossens

Subjects
Cardiovascular system, Human and mouse development, mRNA species, Neurogenesis, Smad-interacting protein-1 (SIP1), TGF-beta signaling, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

ZFHX1B encodes Smad-interacting protein 1, a transcriptional corepressor involved in the transforming growth factors β (TGFβ) signaling pathway. ZFHX1B mutations cause a complex developmental phenotype characterized by severe mental retardation (MR) and multiple congenital defects. We compared the distribution of ZFHX1B transcripts during mouse and human embryogenesis as well as in adult mice and humans. This showed that this gene is strongly transcribed at an early stage in the developing peripheral and central nervous systems of both mice and humans, in all neuronal regions of the brains of 25-week human fetuses and adult mice, and at varying levels in numerous nonneural tissues. Northern blot analysis suggested that ZFHX1B undergoes tissue-specific alternative splicing in both species. These results strongly suggest that ZFHX1B determines the transcriptional levels of target genes in various tissues through the combinatorial interactions of its isoforms with different Smad proteins. Thus, as well as causing neural defects, ZFHX1B mutations may also cause other malformations.

Published
2004
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4. Overview of Secondary Neurulation

Author

Martin Catala, Laboratoire de Biologie du Développement [Paris] (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), and Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
media_common.quotation_subject, Caudal spinal cord, Review Article, Pediatric (Secondary Neurulation : The Current Central Topic in Spinal Dysraphism), 030218 nuclear medicine & medical imaging, Secondary neurulation, 03 medical and health sciences, 0302 clinical medicine, medicine, Blastema, Internalization, Process (anatomy), media_common, Cavitation, Neural tube defect, business.industry, General Neuroscience, Neural tube, Embryo, medicine.disease, Cell biology, Neurulation, medicine.anatomical_structure, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Tail bud, Surgery, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

International audience; Secondary neurulation is a morphological process described since the second half of the 19th century; it accounts for the formation of the caudal spinal cord in mammals including humans. A similar process takes place in birds. This form of neurulation is caused by the growth of the tail bud region, the most caudal axial region of the embryo. Experimental work in different animal species leads to questioning dogmas widely disseminated in the medical literature. Thus, it is clearly established that the tail bud is not a mass of undifferentiated pluripotent cells but is made up of a juxtaposition of territories whose fate is different. The lumens of the two tubes generated by the two modes of neurulation are continuous. There seem to be multiple cavities in the human embryo, but discrepancies exist according to the authors. Finally, the tissues that generate the secondary neural tube are initially located in the most superficial layer of the embryo. These cells must undergo internalization to generate the secondary neurectoderm. A defect in internalization could lead to an open neural tube defect that contradicts the dogma that a secondary neurulation defect is closed by definition.

Published
2021
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5. Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

Author

Abraham Andreu-Cervera, Martin Catala, Sylvie Schneider-Maunoury, Institut de Biologie Paris Seine (IBPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universidad Miguel Hernández [Elche] (UMH), Fondation ARC pour la Recherche sur le Cancer, Fondation pour la Recherche Médicale, Gestionnaire, HAL Sorbonne Université 5, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0301 basic medicine, Developmental Disabilities, RPGRIP1L, Ciliopathies, Craniofacial Abnormalities, 0302 clinical medicine, Holoprosencephaly, Primary cilia, Cerebellum, Eye Abnormalities, Sonic hedgehog, Encephalocele, Polycystic Kidney Diseases, Cilium, Brain, Gene Expression Regulation, Developmental, Kidney Diseases, Cystic, Cerebral cortex, Brain development, 3. Good health, Neurology, Gli transcription factor, Microcephaly, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Retinitis Pigmentosa, Ciliary Motility Disorders, Signal Transduction, Ciliopathy, Biology, Zinc Finger Protein Gli2, Zinc Finger Protein GLI1, Retina, lcsh:RC321-571, 03 medical and health sciences, Prosencephalon, Zinc Finger Protein Gli3, medicine, Humans, Abnormalities, Multiple, Hedgehog Proteins, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Cilia, Hedgehog, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, medicine.disease, 030104 developmental biology, Forebrain, biology.protein, Neuroscience, 030217 neurology & neurosurgery
Abstract

Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline structures of the forebrain and face. The Shh pathway requires functional primary cilia, microtubule-based organelles present on virtually every cell and acting as cellular antennae to receive and transduce diverse chemical, mechanical or light signals. The dysfunction of cilia in humans leads to inherited diseases called ciliopathies, which often affect many organs and show diverse manifestations including forebrain malformations for the most severe forms. The purpose of this review is to provide the reader with a framework to understand the developmental origin of the forebrain defects observed in severe ciliopathies with respect to perturbations of the Shh pathway. We propose that many of these defects can be interpreted as an imbalance in the ratio of activator to repressor forms of the Gli transcription factors, which are effectors of the Shh pathway. We also discuss the complexity of ciliopathies and their relationships with forebrain disorders such as holoprosencephaly or malformations of cortical development, and emphasize the need for a closer examination of forebrain defects in ciliopathies, not only through the lens of animal models but also taking advantage of the increasing potential of the research on human tissues and organoids., This work was supported by funding to SSM from the Fondation pour la Recherche Médicale (Equipe FRM EQU201903007943) and from the Fondation ARC (PJA 20171206591).

Published
2020
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6. Presymptomatic spinal cord pathology in c9orf72 mutation carriers: a longitudinal neuroimaging study

Author

Olivier Colliot, Dario Saracino, Isabelle Le Ber, Agnès Camuzat, Mélanie Pélégrini-Issac, Véronique Marchand-Pauvert, Menghan Li, Daisy Rinaldi, François Salachas, Peter Bede, Mohamed-Mounir El Mendili, Giorgia Querin, Julien Cohen-Adad, Martin Catala, Pierre-François Pradat, Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Fédération des Maladies du Système Nerveux, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), École Polytechnique de Montréal (EPM), Algorithms, models and methods for images and signals of the human brain (ARAMIS), Sorbonne Université (SU)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), This study was supported by the Assistance Publique – Hôpitaux de Paris (Clinical Research and Development Department) grant ANR/DGOS PRTS 2015 -2019 PrevDemAls (to I.L.B.), the 'Investissements d’avenir' ANR-10-IAIHU-06 (Agence Nationale de la Recherche-10-Investissements-Avenir Institut-Hospitalo-Universitaire-06), the Centre d’Investigation Clinique (CIC 1422), and the Centre pour l’Acquisition et le Traitement des Images (CATI) platform, at IHU-A-ICM, Paris, France. Peter Bede is supported by the Health Research Board (HRB EIA-2017-019), the Andrew Lydon scholarship, the Irish Institute of Clinical Neuroscience IICN − Novartis Ireland Research Grant, and the Iris O'Brien Foundation., ANR-19-P3IA-0001,PRAIRIE,PaRis Artificial Intelligence Research InstitutE(2019), Colliot, Olivier, PaRis Artificial Intelligence Research InstitutE - - PRAIRIE2019 - ANR-19-P3IA-0001 - P3IA - VALID, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), 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)-Centre National de la Recherche Scientifique (CNRS)-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), Laboratoire d'Imagerie Biomédicale [Paris] (LIB), 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), 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0301 basic medicine, Pathology, [SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [INFO.INFO-IM] Computer Science [cs]/Medical Imaging, 0302 clinical medicine, [INFO.INFO-CV] Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], Longitudinal Studies, Prospective Studies, Amyotrophic lateral sclerosis, medicine.diagnostic_test, Middle Aged, 3. Good health, medicine.anatomical_structure, Neurology, Spinal Cord, [INFO.INFO-TI] Computer Science [cs]/Image Processing [eess.IV], Frontotemporal Dementia, [INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV], medicine.symptom, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, Frontotemporal dementia, Adult, medicine.medical_specialty, Heterozygote, Neuroimaging, Asymptomatic, 03 medical and health sciences, Young Adult, Atrophy, Fractional anisotropy, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Aged, [SPI.SIGNAL] Engineering Sciences [physics]/Signal and Image processing, C9orf72 Protein, business.industry, Amyotrophic Lateral Sclerosis, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV], Magnetic resonance imaging, medicine.disease, Spinal cord, 030104 developmental biology, [SDV.IB.IMA] Life Sciences [q-bio]/Bioengineering/Imaging, Corticospinal tract, Asymptomatic Diseases, Mutation, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract

International audience; OBJECTIVE:C9orf72 hexanucleotide repeats expansions account for almost half of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent imaging studies in asymptomatic C9orf72 carriers have demonstrated cerebral white (WM) and gray matter (GM) degeneration before the age of 40 years. The objective of this study was to characterize cervical spinal cord (SC) changes in asymptomatic C9orf72 hexanucleotide carriers.METHODS:Seventy-two asymptomatic individuals were enrolled in a prospective study of first-degree relatives of ALS and FTD patients carrying the c9orf72 hexanucleotide expansion. Forty of them carried the pathogenic mutation (C9+ ). Each subject underwent quantitative cervical cord imaging. Structural GM and WM metrics and diffusivity parameters were evaluated at baseline and 18 months later. Data were analyzed in C9+ and C9- subgroups, and C9+ subjects were further stratified by age.RESULTS:At baseline, significant WM atrophy was detected at each cervical vertebral level in C9+ subjects older than 40 years without associated changes in GM and diffusion tensor imaging parameters. At 18-month follow-up, WM atrophy was accompanied by significant corticospinal tract (CST) fractional anisotropy (FA) reductions. Intriguingly, asymptomatic C9+ subjects older than 40 years with family history of ALS (as opposed to FTD) also exhibited significant CST FA reduction at baseline.INTERPRETATION:Cervical SC imaging detects WM atrophy exclusively in C9+ subjects older than 40 years, and progressive CST FA reductions can be identified on 18-month follow-up. Cervical SC magnetic resonance imaging readily captures presymptomatic pathological changes and disease propagation in c9orf72-associated conditions. ANN NEUROL 2019;86:158-167.

Published
2019
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7. Understanding Anatomy of the Petrous Pyramid–A New Compartmental Approach

Author

Ramez W. Kirollos, Mamdouh Tawfik-Helika, Michael D. Cusimano, Martin Catala, Timothée Jacquesson, Patrick Mertens, Guilherme Carvalhal Ribas, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Laboratoire de Biologie du Développement [Paris] (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
business.industry, [SDV]Life Sciences [q-bio], food and beverages, Anatomy, 03 medical and health sciences, Skull, 0302 clinical medicine, medicine.anatomical_structure, Surgical anatomy, 030220 oncology & carcinogenesis, Air cell, Pyramid, Temporal bone, Middle ear, medicine, Surgery, Segmentation, Neurology (clinical), business, Process (anatomy), 030217 neurology & neurosurgery
Abstract

Background Learning surgical anatomy of the petrous pyramid can be a challenge, especially in the beginning of the training process. Providing an easier, holistic approach can be of help to everyone with interest in learning and teaching skull base anatomy. We present the complex organization of petrous pyramid anatomy using a new compartmental approach that is simple to understand and remember. Methods The surfaces of the petrous pyramid of two temporal bones were examined; and the contents of the petrous pyramid of 8 temporal bones were exposed through progressive drilling of the superior surface. Results The petrous pyramid is made up of a bony container, and its contents were grouped into 4 compartments (mucosal, cutaneous, neural, and vascular). Two reference lines were identified (mucosal and external-internal auditory canal lines) intersecting at the level of the middle ear. The localization of contents relative to these reference lines was then described, and 2 methods of segmentation (the X method and the V method) were then proposed. This description was then used to describe middle ear relationships, facial nerve anatomy, and air cell distribution. Conclusions This new compartmental approach allows a comprehensive understanding of the distribution of petrous pyramid contents. Dividing it into anatomic compartments, and then navigating this mental map along specific reference points, lines, spaces, and segments, could create a useful tool to teach or learn its complex tridimensional anatomy.

Published
2019
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8. The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

Author

Rabab Debs, Jean-Yves Hogrel, Gaëlle Bruneteau, Tanya Stojkovic, Maria del Mar Amador, Julien Cohen-Adad, Lucette Lacomblez, David Devos, Nadine Le Forestier, Peter Bede, Timothée Lenglet, Menghan Li, Sophie Blancho, Pierre-François Pradat, Pascal Laforêt, Anthony Behin, François Salachas, Habib Benali, Martin Catala, Véronique Marchand-Pauvert, Mohamed-Mounir El Mendili, Stéphane Lehéricy, Vincent Meininger, Giorgia Querin, Laboratoire d'Imagerie Biomédicale (LIB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Service de Neuroradiologie [CHU Pitié-Salpêtrière], 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), Centres de référence pour la sclérose latérale amyotrophique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Recherche en Ethique, Université Paris-Sud - Paris 11 (UP11), École Polytechnique de Montréal (EPM), Université de Montréal (UdeM), Unité de Neuroimagerie Fonctionnelle [Montréal] (UNF-CRIUGM), Université de Montréal (UdeM)-Centre de Recherche de l'Institut Universitaire de Gériatrie de Montréal (CRIUGM), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-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)-Centre National de la Recherche Scientifique (CNRS), Centre de Neuro-Imagerie de Recherche (CENIR), Hôpital Raymond Poincaré [AP-HP], Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Concordia University [Montreal], Institut de Biologie Paris Seine (IBPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Trinity College Dublin, University of Ulster, CHU Lille, CNRS, Inserm, Université de Lille, Troubles cognitifs dégénératifs et vasculaires - U1171, Lille Neurosciences & Cognition (LilNCog) - U 1172, Laboratoire d'Imagerie Biomédicale [Paris] (LIB), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Center for NeuroImaging Research-Human MRI Neuroimaging core facility for clinical research [ICM Paris] (CENIR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Gestionnaire, Hal Sorbonne Université, 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), Service de neurologie 1 [CHU Pitié-Salpétrière], and 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)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Pathology, UMN, Upper motor neuron, [SDV]Life Sciences [q-bio], LL, Lower limb, RD, Radial diffusivity, Spinal Muscular Atrophies of Childhood, lcsh:RC346-429, ALS, Amyotrophic lateral sclerosis, 0302 clinical medicine, Grey matter and white matter degeneration, Spinal cord MRI, Multimodal MRI, SMA, Spinal muscular atrophy, Medicine, FA, Fractional anisotropy, Gray Matter, SMA, Spinal muscular atrophy, GM, Grey matter, UL, Upper limb, HC, Healthy control, 05 social sciences, Brain, Middle Aged, Magnetic Resonance Imaging, White Matter, FWE, Familywise error, TR, repetition time, [SDV] Life Sciences [q-bio], Diffusion Tensor Imaging, medicine.anatomical_structure, Spinal Cord, Neurology, FOV, Field-of-view, WM, White matter, lcsh:R858-859.7, Female, [SDV.IB]Life Sciences [q-bio]/Bioengineering, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], EPI, Echo-planar imaging, Motor cortex, Adult, CST, Corticospinal tract, medicine.medical_specialty, CSA, cross-sectional area, Grey matter, Adolescent, ROI, Region-of-interest, MNI, Montreal Neurological Institute, Cognitive Neuroscience, LMN, Lower motor neuron, SC, Spinal cord, lcsh:Computer applications to medicine. Medical informatics, Lower motor neuron, Article, 050105 experimental psychology, MND, Motor neuron disease, Muscular Atrophy, Spinal, White matter, Young Adult, 03 medical and health sciences, AD, Axial diffusivity, Neuroimaging, TE, Echo time, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], lcsh:Neurology. Diseases of the nervous system, Aged, [SDV.IB] Life Sciences [q-bio]/Bioengineering, MD, mean diffusivity, SMAFRS, SMA functional rating scale, business.industry, VBM, Voxel-based morphometry, SMN1, Survival-motor-neuron 1 gene, MRC, Medical Research Council, TFCE, Threshold-free cluster enhancement, medicine.disease, Spinal cord, white matter degeneration, FDR, False discovery rate, DTI, diffusion tensor imaging, Neurology (clinical), 6MWT, Six-minute walk test, business, TBSS, Tract-based spatial statistics, 030217 neurology & neurosurgery
Abstract

Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the characterisation of spinal and cerebral pathology in adult forms of SMA using multimodal quantitative imaging. Methods Twenty-five type III and IV adult SMA patients and 25 age-matched healthy controls were enrolled in a spinal cord and brain imaging study. Structural measures of grey and white matter involvement and diffusion parameters of white matter integrity were evaluated at each cervical spinal level. Whole-brain and region-of-interest analyses were also conducted in the brain to explore cortical thickness, grey matter density and tract-based white matter alterations. Results In the spinal cord, considerable grey matter atrophy was detected between C2-C6 vertebral levels. In the brain, increased grey matter density was detected in motor and extra-motor regions of SMA patients. No white matter pathology was identified neither at brain and spinal level. Conclusions Adult forms of SMA are associated with selective grey matter degeneration in the spinal cord with preserved white matter integrity. The observed increased grey matter density in the motor cortex may represent adaptive reorganisation., Highlights • (SMA) type 3 and 4 is a lower motor neuron syndrome. Nevertheless, wider involvement of the nervous system might be possible. • 25 adults type 3 and 4 SMA patients were studied using brain and cervical spinal cord neuroimaging techniques. • Grey matter atrophy was observed in the spinal cord. No white matter degeneration was present at brain and spinal level. • Increased grey matter density was detected in cerebral motor regions and explained as compensatory mechanism.

Published
2019
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9. Molecular anatomy and functions of the choroidal blood-cerebrospinal fluid barrier in health and disease

Author

Jean-François Ghersi-Egea, Violeta Silva-Vargas, Nathalie Strazielle, Martin Catala, Fiona Doetsch, Britta Engelhardt, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Brain-i Lyon, Morphogénèse du Cerveau des Vertébrés = Morphogenesis of the vertebrate brain (LBD-E10), Institut National de la Santé et de la Recherche Médicale (INSERM)-Laboratoire de Biologie du Développement [IBPS] (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biozentrum [Basel, Suisse], University of Basel (Unibas), Theodor Kocher Institut, University of Bern, HAL UPMC, Gestionnaire, Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Laboratoire de Biologie du Développement [Paris] (LBD)

Subjects
0301 basic medicine, [SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, 610 Medicine & health, Blood–brain barrier, Neuroprotection, Cerebral Ventricles, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cerebrospinal fluid, Immune system, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], medicine, Animals, Humans, Neuroinflammation, Cerebrospinal Fluid, business.industry, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Blood-Brain Barrier, 570 Life sciences, biology, Choroid plexus, Neurology (clinical), Choroid, business, Neuroscience, Homeostasis
Abstract

International audience; The barrier between the blood and the ventricular cerebrospinal fluid (CSF) is located at the choroid plexuses. At the interface between two circulating fluids, these richly vascularized veil-like structures display a peculiar morphology explained by their developmental origin, and fulfill several functions essential for CNS homeostasis. They form a neuroprotective barrier preventing the accumulation of noxious compounds into the CSF and brain, and secrete CSF, which participates in the maintenance of a stable CNS internal environment. The CSF circulation plays an important role in volume transmission within the developing and adult brain, and CSF compartments are key to the immune surveillance of the CNS. In these contexts, the choroid plexuses are an important source of biologically active molecules involved in brain development, stem cell proliferation and differentiation, and brain repair. By sensing both physiological changes in brain homeostasis and peripheral or central insults such as inflammation, they also act as sentinels for the CNS. Finally, their role in the control of immune cell traffic between the blood and the CSF confers on the choroid plexuses a function in neuroimmune regulation and implicates them in neuroinflammation. The choroid plexuses, therefore, deserve more attention while investigating the pathophysiology of CNS diseases and related comorbidities.

Published
2018
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10. PINK1 and FLNA mutations association: A role for atypical parkinsonism?

Author

Martin Catala, Alexis Brice, Aurélie Toussaint, Marie Vidailhet, Bertrand Degos, Suzanne Lesage, Cherif Beldjord, Morphogénèse du Cerveau des Vertébrés = Morphogenesis of the vertebrate brain (LBD-E10), Laboratoire de Biologie du Développement (LBD), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), 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)-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)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), and 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)-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)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
0301 basic medicine, Parkinson's disease, PINK1, Behavioural disorders, Biology, Filamin, Periventricular heterotopia, 03 medical and health sciences, 0302 clinical medicine, medicine, FLNA, [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS, Genetics, medicine.disease, 030104 developmental biology, Neurology, Mutation (genetic algorithm), Atypical Parkinsonism, Neurology (clinical), Geriatrics and Gerontology, 030217 neurology & neurosurgery
Abstract

International audience; no abstract

Published
2016
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11. Development of the Posterior Fossa Structures

Author

Martin Catala, Morphogénèse du Cerveau des Vertébrés = Morphogenesis of the vertebrate brain (LBD-E10), Laboratoire de Biologie du Développement (LBD), Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), 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)-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)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), 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)-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)-Institut National de la Santé et de la Recherche Médicale (INSERM), Özek, M. Memet and Cinalli, Giuseppe and Maixner, Wirginia and Sainte-Rose, Christian, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), and 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Engineering, Pediatric neurosurgery, business.industry, Occipital bone, Posterior fossa, Anatomy, business, [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS
Abstract

The posterior fossa is a favorite subject for our colleagues involved in pediatric neurosurgery. Indeed, most of the serious illnesses affecting children lie at this level. It is therefore important to present here an aspect (albeit simplified) illustrating the development of these structures.

Published
2015
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12. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Author

Isabelle Coupier, Patrick Edery, Valérie Cormier-Daire, Séverine Audebert-Bellanger, Claire Calmel, Marilyne Le Jule, Fabienne Giuliano, Stanislas Lyonnet, Sophie Blesson, Bérénice Doray, Frédéric Brioude, Clarisse Baumann, Odile Boute, Martin Catala, Jean-Luc Alessandri, Sabine Sigaudy, Fanny Laffargue, Sylvie Odent, Alain Verloes, Lydie Burglen, Didier Lacombe, James Lespinasse, Françoise Praz, Michel Polak, Irène Netchine, Sylvie Rossignol, Bruno Leheup, Géraldine Viot, Yves Le Bouc, Bertrand Isidor, Patricia Blanchet, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie du Développement (LBD), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Pédiatrie et de Génétique Médicale, Hôpital Morvan [Brest]-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital l'Archet, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Unité d'Oncogénétique, CRLCC Val d'Aurelle - Paul Lamarque, Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Génétique Médicale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique, Hôpital de Hautepierre [Strasbourg], Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service de Génétique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Les Hôpitaux Universitaires de Strasbourg (HUS), BM1208, Institut National de la Santé Et de la Recherche Médicale, Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université de Bordeaux ( UB ) -CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre de recherche en neurosciences de Lyon ( CRNL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Biologie du Développement ( LBD ), Centre National de la Recherche Scientifique ( CNRS ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Institut National de la Santé et de la Recherche Médicale, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ) -Hôpital Morvan [Brest], Service de Génétique et d'Embryologie Médicale, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Service de neuropédiatrie et pathologie du développement, Service de Génétique Médical, CHU Clermont-Ferrand, Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Hôpital Morvan [Brest], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]

Subjects
Male, Pathology, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Genotype, [SDV]Life Sciences [q-bio], Molecular Sequence Data, Beckwith–Wiedemann syndrome, Beckwith–Wiedemann, Biology, 03 medical and health sciences, Genomic Imprinting, Genetics, medicine, Macroglossia, Missense mutation, Humans, Epigenetics, Amino Acid Sequence, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), Alleles, Genetic Association Studies, 030304 developmental biology, Ganglioneuroblastoma, 0303 health sciences, [ SDV ] Life Sciences [q-bio], 030305 genetics & heredity, Cell Cycle, medicine.disease, Phenotype, 3. Good health, Pedigree, CDKN1C, Amino Acid Substitution, Overgrowth syndrome, Mutation, Female, medicine.symptom, imprinting, Sequence Alignment, overgrowth syndrome, Visceromegaly
Abstract

International audience; Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia, abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular anomalies are mostly epigenetic; however, mutations of CDKN1C are implicated in 8% of cases, including both sporadic and familial forms. We aimed to describe the phenotype of BWS patients with CDKN1C mutations and develop a functional test for CDKN1C mutations. For each propositus, we sequenced the three exons and intron–exon boundaries of CDKN1C in patients presenting a BWS phenotype, including abdominal wall defects, without 11p15 methylation defects. We developed a functional test based on flow cytometry. We identified 37 mutations in 38 pedigrees (50 patients and seven fetuses). Analysis of parental samples when available showed that all mutations tested but one was inherited from the mother. The four missense mutations led to a less severe phenotype (lower frequency of exomphalos) than the other 33 mutations. The following four tumors occurred: one neuroblastoma, one ganglioneuroblastoma, one melanoma, and one acute lymphoid leukemia. Cases of BWS caused by CDKN1C mutations are not rare. CDKN1C sequencing should be performed for BWS patients presenting with abdominal wall defects or cleft palate without 11p15 methylation defects or body asymmetry, or in familial cases of BWS

Published
2015
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13. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the 'Mowat–Wilson' syndrome

Author

Olivier Camand, Michel Goossens, Guillaume Bassez, Florence Dastot-Le Moal, Alexandra Kobetz, Valère Cacheux, Marc Abitbol, Dominique Marchant, and Martin Catala

Subjects
Gene isoform, Neurogenesis, Smad Proteins, SMAD, Biology, Congenital Abnormalities, Human and mouse development, lcsh:RC321-571, Craniofacial Abnormalities, Mice, Fetus, Intellectual Disability, Genes, Regulator, Animals, Humans, Protein Isoforms, Human embryogenesis, Northern blot, Gene, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Body Patterning, Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, Genetics, Regulation of gene expression, Smad-interacting protein-1 (SIP1), Alternative splicing, Brain, Gene Expression Regulation, Developmental, Embryo, Mammalian, Phenotype, DNA-Binding Proteins, Repressor Proteins, Alternative Splicing, Cardiovascular system, Neurology, Neural Crest, Mutation, Trans-Activators, mRNA species, TGF-beta signaling
Abstract

ZFHX1B encodes Smad-interacting protein 1, a transcriptional corepressor involved in the transforming growth factors beta (TGFbeta) signaling pathway. ZFHX1B mutations cause a complex developmental phenotype characterized by severe mental retardation (MR) and multiple congenital defects. We compared the distribution of ZFHX1B transcripts during mouse and human embryogenesis as well as in adult mice and humans. This showed that this gene is strongly transcribed at an early stage in the developing peripheral and central nervous systems of both mice and humans, in all neuronal regions of the brains of 25-week human fetuses and adult mice, and at varying levels in numerous nonneural tissues. Northern blot analysis suggested that ZFHX1B undergoes tissue-specific alternative splicing in both species. These results strongly suggest that ZFHX1B determines the transcriptional levels of target genes in various tissues through the combinatorial interactions of its isoforms with different Smad proteins. Thus, as well as causing neural defects, ZFHX1B mutations may also cause other malformations.

Published
2004

14. Rescue of corpus callosum agenesis in two ciliary mutants by the short repressor isoform of Gli3

Author

Christine Laclef, Sylvie Schneider-Maunoury, Isabelle Anselme, Bénédicte Durand, Laurianne Besse, Dominique Baas, Martin Catala, and M Paschaki

Subjects
Genetics, Corpus Callosum Agenesis, Cilium, Ciliary transition zone, Cell Biology, Biology, medicine.disease, Cell biology, Neuroepithelial cell, Ciliogenesis, GLI3, Forebrain, Poster Presentation, medicine, Agenesis of the corpus callosum
Abstract

Agenesis of the Corpus callosum (AgCC) is a frequent brain disorder found in over 50 human congenital syndromes including ciliopathies. Here, we report a severe AgCC in Ftm/Rpgrip1l knock-out mice, which provide a valuable model for Meckel-Gruber syndrome. Ftm encodes a protein of the ciliary transition zone, which is essential for ciliogenesis in some, but not all cell types in mice, including neuroepithelial cells in the developing forebrain. We show that AgCC in Ftm-/- fetuses results from a mislocalization of guidepost cells in the dorsomedial telencephalon and not from a reduction of callosal neurons in the cortex. This abnormal distribution of the guideposts primarily results from patterning defects in the medial telencephalon, which relies on Gli3 processing defects. These patterning defects, mispositioning of dorsomedial guideposts and AgCC can all be rescued by reintroducing Gli3R in Ftm-/- embryos, provided by the Gli3D699 allele, which produces only the short repressor isoform of Gli3. This rescue of AgCC of Ftm-/- mutants by one allele of Gli3D699 confirms and completes our knowledge on the pre-eminent role of Gli3 in CC formation. Furthermore, Gli3D699 also rescue AgCC in Rfx3-/- mutant, another ciliary mutant deficient for a transcription factor controlling several ciliary genes. Rescuing the CC formation in two independent ciliary mutants by a single molecule, namely Gli3R, highlight the crucial role of primary cilia in maintaining the proper level of Gli3R required for CC morphogenesis. These data demonstrate that Gli3 processing is the major outcome of primary cilia function in CC formation.

Published
2015

15. Human and monkey fetal brain development of the supramammillary-hippocampal projections: a system involved in the regulation of theta activity

Author

Gundela Meyer, Monique Esclapez, Chantal Alvarez, Brigitte Berger, Martin Catala, Neuromorphologie: développement, évolution, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Anatomy, Universidad de La Laguna [Tenerife - SP] (ULL), Cytosquelette et développement (CD), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Tyzio, Roman, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), and Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)

Subjects
MESH: Hippocampus, Glutamate decarboxylase, Presynaptic Terminals, Hippocampus, Substance P, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Hippocampal formation, chemistry.chemical_compound, Embryonic and Fetal Development, MESH: Afferent Pathways, Species Specificity, biology.animal, medicine, Animals, Humans, MESH: Presynaptic Terminals, MESH: Species Specificity, Primate, MESH: Animals, MESH: Theta Rhythm, Theta Rhythm, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Afferent Pathways, MESH: Humans, biology, General Neuroscience, Dentate gyrus, MESH: Embryonic and Fetal Development, Macaca fascicularis, medicine.anatomical_structure, chemistry, nervous system, MESH: Macaca fascicularis, Calretinin, Pyramidal cell, Neuroscience
Abstract

The supramammillary (SUM)-hippocampal pathway plays a central role in the regulation of theta rhythm frequency. We followed its prenatal development in eight Cynomolgus monkeys (Macaca fascicularis) from embryonic day E88 to postnatal day 12 (term 165 days) and in eight human fetuses from 17.5 to 40 gestational weeks, relying on neurochemical criteria established in the adult (Nitsch and Leranth [1993] Neuroscience 55:797‐812). We found that 1) SUM afferents reached the dentate juxtagranular and CA2 pyramidal cell layers at midgestation in human fetuses, earlier than in monkeys (two-thirds of gestation [E109]). They co-expressed calretinin, substance P, and acetylcholinesterase but not g-aminobutyric acid (GABA) or glutamic acid decarboxylase (GAD); 2) the presumed parent neurons in the monkey SUM expressed calretinin or both calretinin and substance P; 3) most of them were surrounded by GADcontaining terminals that might correspond to the septo-SUM feedback pathway (Leranth et al. [1999] Neuroscience 88:701); and 4) in addition, a large band of calretinin-labeled terminals that did not co-express substance P, GAD, or acetylcholinesterase was present in the deepest one-third of the dentate molecular layer in both the Cynomolgus monkey and human fetuses. It persisted in the adult monkey but not in adult human hippocampus; it remains questionable whether it originates in the SUM. In conclusion, the early ingrowth of the excitatory SUM-hippocampal system in human and non-human primates may contribute to the prenatal activity-dependent development of the hippocampal formation. The possibility and the functional importance of an in utero generation of hippocampal theta-like activity should also be considered. J. Comp. Neurol. 429:515‐529, 2001. © 2001 Wiley-Liss, Inc. Indexing terms: dentate gyrus; calretinin; substance P; GABA; GAD; primate

Published
2001

16. Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication

Author

V El Ghouzzi, Martin Catala, Dominique Renier, Elizabeth Lajeunie, Jacky Bonaventure, El Ghouzzi, Vincent, Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie du Développement [Paris] (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), and Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Pediatrics, medicine.medical_specialty, Genotype, Concordance, [SDV]Life Sciences [q-bio], Thumb duplication, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Craniosynostosis, Fathers, Diseases in Twins, Humans, Medicine, Receptor, Fibroblast Growth Factor, Type 2, Polymorphism, Single-Stranded Conformational, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Craniofacial Dysostosis, Skull, Infant, Receptor Protein-Tyrosine Kinases, Crouzon syndrome, Twins, Monozygotic, medicine.disease, Receptors, Fibroblast Growth Factor, 3. Good health, Radiography, [SDV] Life Sciences [q-bio], Polydactyly, Thumb, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Microsatellite Repeats
Abstract

International audience

Published
2000

18. Stem cell growth becomes predominant while neural plate progenitor pool decreases during spinal cord elongation

Author

Philippe Faure, Isabelle Roszko, Luc Mathis, Biologie Moléculaire du Développement, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Récepteurs et Cognition (RC), Collège de France (CdF (institution))-Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), IR received financial support from the MRT and ARC., We wish to thank Jacqueline Deschamps, Denis Duboule, Kate Storey and Claudio Stern for useful discussions, Jacqueline Deschamps, Emilie Legué, Estelle Hirsinger, Elena Tzouanacou, Paul Kulesa, Sigolene Meilhac, Musa Mhlanga, Colin Crist and Kate Storey for critical reading of the manuscript. We thank Charles Kimmel for authorizing us to use his published data, Martin Catala for help with embryo culture and the imaging center at the Pasteur Institute (www.pfid.org). Finally, Jean-François Nicolas is thanked for discussions and for hosting IR and LM in his laboratory and members of the lab for discussions., Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], and Collège de France (CdF (institution))-Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)

Subjects
Mouse, [SDV]Life Sciences [q-bio], MESH: Microscopy, Fluorescence, Chick Embryo, Chick, MESH: Spinal Cord, 0302 clinical medicine, Cell Movement, Intercalation, MESH: Animals, Axis elongation, Zebrafish, MESH: Cell Movement, Genetics, 0303 health sciences, Spinal cord, Stem cell, Stem Cells, Embryo, MESH: Chick Embryo, Cell biology, Electroporation, medicine.anatomical_structure, Elongation, Axis, Neural plate, MESH: Body Patterning, MESH: Stem Cells, Biology, LaacZ, 03 medical and health sciences, MESH: Computer Simulation, medicine, Animals, Cell Lineage, Computer Simulation, MESH: Electroporation, Molecular Biology, Body Patterning, 030304 developmental biology, Progenitor, Models, Statistical, Cell Biology, MESH: Cell Lineage, biology.organism_classification, Microscopy, Fluorescence, 030217 neurology & neurosurgery, MESH: Models, Statistical, Developmental Biology
Abstract

International audience; The antero-posterior dispersion of clonally related cells is a prominent feature of axis elongation in vertebrate embryos. Two major models have been proposed: (i) the intercalation of cells by convergent-extension and (ii) the sequential production of the forming axis by stem cells. The relative importance of both of these cell behaviors during the long period of elongation is poorly understood. Here, we use a combination of single cell lineage tracing in the mouse embryo, computer modeling and confocal video-microscopy of GFP labeled cells in the chick embryo to address the mechanisms involved in the antero-posterior dispersion of clones. In the mouse embryo, clones appear as clusters of labeled cells separated by intervals of non-labeled cells. The distribution of intervals between clonally related clusters correlates with a statistical model of a stem cell mode of growth only in the posterior spinal cord. A direct comparison with published data in zebrafish suggests that elongation of the anterior spinal cord involves similar intercalation processes in different vertebrate species. Time-lapse analyses of GFP labeled cells in cultured chick embryos suggest a decrease in the size of the neural progenitor pool and indicate that the dispersion of clones involves ordered changes of neighborhood relationships. We propose that a pre-existing stem zone of growth becomes predominant to form the posterior half of the axis. This temporal change in tissue-level motion is discussed in terms of the clonal and genetic continuities during axis elongation.

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