Author: "Guillaume Banneau" - Searchworks@Jio Institute Digital Library Search Results

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31 results on '"Guillaume Banneau"'

1. Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

Author: Rémy Nicolle, Mira Ayadi, Anne Gomez-Brouchet, Lucile Armenoult, Guillaume Banneau, Nabila Elarouci, Matthias Tallegas, Anne-Valérie Decouvelaere, Sébastien Aubert, Françoise Rédini, Béatrice Marie, Corinne Labit-Bouvier, Nicolas Reina, Marie Karanian, Louis-Romée le Nail, Philippe Anract, François Gouin, Frédérique Larousserie, Aurélien de Reyniès, and Gonzague de Pinieux
Subjects: Science
Abstract: Chondrosarcomas are heterogenous tumours of the bone cartilage and have highly variable prognoses. Here, the authors perform a multi-omics analysis, revealing molecular features that can stratify clinical outcomes.
Published: 2019
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2. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

Author: Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, and Emilien Bernard
Subjects: hereditary spastic paraplegia, amyotrophic lateral sclerosis, SPG5, frontotemporal dementia, ALS/FTD, CYP7B1, Genetics, QH426-470
Abstract: Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) at the age of 67 years. Hereditary spastic paraplegia (HSP) gene analysis identified the compound heterozygous mutations c.825T>A (pTyr275*) and c.1193C>T (pPro398Leu) in CYP7B1 gene. No other pathogenic variant in frequent ALS/FTD causative genes was found. The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS, after the recently described UBQLN2 and ERLIN2 genes. We therefore expand the phenotype associated with CYP7B1 biallelic mutations and make an assumption about a link between cholesterol dyshomeostasis and ALS/FTD.
Published: 2021
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3. Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

Author: Audrey Rouault, Guillaume Banneau, Gaëtan Macgrogan, Natalie Jones, Nabila Elarouci, Emmanuelle Barouk-Simonet, Laurence Venat, Isabelle Coupier, Eric Letouzé, Aurélien de Reyniès, Françoise Bonnet, Richard Iggo, Nicolas Sévenet, and Michel Longy
Subjects: Medicine, Science
Abstract: IntroductionGermline BRCA1 or BRCA2 mutations account for 20-30% of familial clustering of breast cancer. The main indication for BRCA2 screening is currently the family history but the yield of mutations identified in patients selected this way is low.MethodsTo develop more efficient approaches to screening we have compared the gene expression and genomic profiles of BRCA2-mutant breast tumors with those of breast tumors lacking BRCA1 or BRCA2 mutations.ResultsWe identified a group of 66 genes showing differential expression in our training set of 7 BRCA2-mutant tumors and in an independent validation set of 19 BRCA2-mutant tumors. The differentially expressed genes include a prominent cluster of genes from chromosomes 13 and 14 whose expression is reduced. Gene set enrichment analysis confirmed that genes in specific bands on 13q and 14q showed significantly reduced expression, suggesting that the affected bands may be preferentially deleted in BRCA2-mutant tumors. Genomic profiling showed that the BRCA2-mutant tumors indeed harbor deletions on chromosomes 13q and 14q. To exploit this information we have created a simple fluorescence in situ hybridization (FISH) test and shown that it detects tumors with deletions on chromosomes 13q and 14q.ConclusionTogether with previous reports, this establishes that deletions on chromosomes 13q and 14q are a hallmark of BRCA2-mutant tumors. We propose that FISH to detect these deletions would be an efficient and cost-effective first screening step to identify potential BRCA2-mutation carriers among breast cancer patients without a family history of breast cancer.
Published: 2012
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4. Homogenization of cartilage tumors to extract total RNA to microarray and sequencing analysis using Precellys bead-beating technology

Author: Guillaume Banneau, Mira Ayadi, Lucile Armenoult, and Esmeralda Carvalho
Subjects: Biology (General), QH301-705.5
Published: 2012
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5. Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET

Author: Armand Hocquel, Jean-Marie Ravel, Laetitia Lambert, Céline Bonnet, Guillaume Banneau, Bophara Kol, Laurène Tissier, Lucie Hopes, Mylène Meyer, Céline Dillier, Maud Michaud, Arnaud Lardin, Anne-Laure Kaminsky, Emmanuelle Schmitt, Liang Liao, François Zhu, Bronner Myriam, Carine Bossenmeyer-Pourié, Antoine Verger, and Mathilde Renaud
Subjects: Cellular and Molecular Neuroscience, Genetics, Genetics (clinical)
Published: 2022

6. Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia

Author: Jean-Marie Ravel, Maud Michaud, Solène Frismand, Salomé Puisieux, Guillaume Banneau, Jean-François Benoist, Laëtitia Lambert, Céline Bonnet, and Mathilde Renaud
Subjects: Neurology, Neurology (clinical), Geriatrics and Gerontology
Published: 2023

7. The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

Author: Livia Parodi, Mathieu Barbier, Maxime Jacoupy, Claire Pujol, François-Xavier Lejeune, Pauline Lallemant-Dudek, Typhaine Esteves, Maartje Pennings, Erik-Jan Kamsteeg, Marine Guillaud-Bataille, Guillaume Banneau, Giulia Coarelli, Badreddine Mohand Oumoussa, Matthew J. Fraidakis, Giovanni Stevanin, Christel Depienne, Bart van de Warrenburg, Alexis Brice, Alexandra Durr, 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), Biologie mitochondriale – Mitochondrial biology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université de Bordeaux (UB), Radboud University Medical Center [Nijmegen], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Plateforme Post-génomique de la Pitié-Salpêtrière (PASS-P3S), Unité Mixte de Service Production et Analyse de données en Sciences de la vie et en Santé (PASS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 'Attikon' University Hospital, Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], and We are deeply grateful to the patients for their participation. We thank the DNA and Cells Bank of the Paris Brain Institute (Institut du Cerveau, ICM) (Sylvie Forlani and Ludmila Jornea) and all the SPATAX network collaborators for their dedicated support: Mathieu Anheim, Dominique Bonneau, Rabab Debs, Claire Ewenczyk, Cyril Goizet, Solveig Heide, Isabelle Le Ber, Timothée Lenglet, Cecilia Marelli, Karine Nguyen, Diana Rodriguez, Tanya Stojkovic, Alina Maria Tataru, and Christine Tranchant.
Subjects: Serine-tRNA Ligase, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Spastin, SARS2, Spastic Paraplegia, Hereditary, Hereditary spastic paraplegia, Medizin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetic modifier, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mitochondria, Mutation, Humans, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Genetics (clinical), Genome-Wide Association Study
Abstract: Item does not contain fulltext PURPOSE: Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently discovered that missense variants in SPAST, which influences microtubule dynamics, are associated with earlier onset and more severe disease than truncating variants, but even within the early and late-onset groups there remained significant differences in onset. Given the rarity of the condition, we adapted an extreme phenotype approach to identify genetic modifiers of onset. METHODS: We performed a genome-wide association study on 134 patients bearing truncating pathogenic variants in SPAST, divided into early- and late-onset groups (aged ≤15 and ≥45 years, respectively). A replication cohort of 419 included patients carrying either truncating or missense variants. Finally, age at onset was analyzed in the merged cohort (N = 553). RESULTS: We found 1 signal associated with earlier age at onset (rs10775533, P = 8.73E-6) in 2 independent cohorts and in the merged cohort (N = 553, Mantel-Cox test, P < .0001). Western blotting in lymphocytes of 20 patients showed that this locus tends to upregulate SARS2 expression in earlier-onset patients. CONCLUSION: SARS2 overexpression lowers the age of onset in hereditary spastic paraplegia type 4. Lowering SARS2 or improving mitochondrial function could thus present viable approaches to therapy.
Published: 2022

8. Evidence of mosaicism in SPAST variant carriers in four French families

Author: William Camu, Guillaume Banneau, Samia Ait Said, Eric LeGuern, Christel Depienne, Bophara Kol, Caroline Rooryck, Clarisse Scherer-Gagou, Giovanni Stevanin, Laurène Tissier, Perrine Pennamen, Bénédicte Héron, Cyril Goizet, Marine Guillaud-Bataille, Chloé Angelini, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe hospitalier Pellegrin, Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Unité Fonctionnelle de Génétique Clinique [CHU Pitié Salpétrière], 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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Duisbourg-Essen, Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), and Institut Fédératif de Biologie (IFB) - Hôpital Purpan
Subjects: Male, MESH: Alleles, Child, Comparative Genomic Hybridization, Female, France, Gene Frequency, Heterozygote, High-Throughput Nucleotide Sequencing, Spastin, Medizin, Brief Communication, Spastic Paraplegias, 03 medical and health sciences, Genetic etiology, Genetics, Spastic, Medicine, Humans, Diagnostic laboratory, Genetics (clinical), Alleles, 0303 health sciences, business.industry, Mosaicism, Spastic Paraplegia, Hereditary, 030305 genetics & heredity, Homozygote, Middle Aged, Penetrance, 3. Good health, Pedigree, nervous system diseases, Phenotype, Somatic mosaicism, Mutation, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We report here SPAST mosaic variants in four unrelated patients. We confirm that mosaicism in SPAST is a very rare event with only four identified cases on more than 300 patients with a SPAST variant previously described by our clinical diagnostic laboratory.
Published: 2021

9. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

Author: Marie Coutelier, Kristina Lidström, Malin Kvarnung, Rayomand Press, Rita Rodrigues, Jean-Philippe Azulay, Meriem Tazir, Giovanni Vazza, Sara Morais, Guillaume Banneau, Elena Pegoraro, Mélanie Papin, Giovanni Stevanin, José Leal Loureiro, Giulia Coarelli, Eric Le Guern, Alexandra Durr, Isabel Alonso, Alexis Brice, Jean-Loup Méreaux, Per Svenningsson, Daniel Nilsson, Frederic Taithe, Vincent Huin, Cyril Goizet, Rémi Valter, Cristina Firanescu, Martin Paucar, Livia Parodi, 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), and Karolinska University Hospital [Stockholm]
Subjects: Male, Neurology, Dysarthria, CAPN1, 0302 clinical medicine, Spastic, Missense mutation, Age of Onset, Child, Genetics (clinical), Genetics, Sanger sequencing, 0303 health sciences, Calpain, 3. Good health, Pedigree, Phenotype, Muscle Spasticity, symbols, Cerebellar atrophy, Female, Original Article, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Cerebellar ataxia, Neurodegeneration, Spastic ataxia, Spastic paraplegia, Adult, medicine.medical_specialty, Cerebellar Ataxia, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, Young Adult, Intellectual Disability, medicine, Humans, Spinocerebellar Ataxias, Spasticity, Genetic Association Studies, 030304 developmental biology, business.industry, Spastic Paraplegia, Hereditary, nervous system diseases, Optic Atrophy, Mutation, business, 030217 neurology & neurosurgery
Abstract: Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1, when mutated, is responsible for a complex inherited form of spastic paraplegia (SPG76). We report the largest published series of 21 novel patients with nine new CAPN1 disease-causing variants and their clinical characteristics from two European university hospitals (Paris and Stockholm). After a formal clinical examination, causative variants were identified by next-generation sequencing and confirmed by Sanger sequencing. CAPN1 variants are a rare cause (~ 1.4%) of young-adult-onset spastic ataxia; however, together with all published cases, they allowed us to better describe the clinical and genetic spectra of this form. Truncating variants are the most frequent, and missense variants lead to earlier age at onset in favor of an additional deleterious effect. Cerebellar ataxia with cerebellar atrophy, dysarthria and lower limb weakness are often associated with spasticity. We also suggest that cognitive impairment and depression should be assessed specifically in the follow-up of SPG76 cases.
Published: 2021

10. Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease

Author: Leonidas Stefanis, Nicholas W. Wood, Eric LeGuern, Henry Houlden, Rabab Debs, Guillaume Banneau, Samia Ait Said, Maria Stamelou, John Tzartos, Thomas Zambelis, Thomas Bourinaris, George D. Vavougios, Clarisse Scherer-Gagou, Viorica Chelban, Yann Péréon, Marianthi Breza, Constantin Potagas, Georgios Koutsis, Theodoros Mavridis, Craig Blackstone, Jana Vandrovcova, Raul Juntas-Morales, Giovanni Stevanin, Laurène Tissier, Alkyoni Athanasiou-Fragkouli, Caterina Mariotti, Georgia Karadima, Jennifer Hirst, Jean Philippe Camdessanché, Bophara Kol, Stephanie Efthymiou, Chrisoula Kartanou, Jean-Médard Zola, Georgios Velonakis, Victoria G Martinez, Anna Heinzmann, Breza, Marianthi [0000-0001-9213-7941], Stamelou, Maria [0000-0003-1668-9925], Stevanin, Giovanni [0000-0001-9368-8657], and Apollo - University of Cambridge Repository
Subjects: SPG48, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Hereditary spastic paraplegia, epileptic seizures, rare disease, spastic paraplegia 48, whole exome sequencing, Rare Diseases, medicine, Humans, hereditary spastic paraplegia, Exome sequencing, business.industry, Spastic Paraplegia, Hereditary, medicine.disease, nervous system diseases, Pedigree, Phenotype, Neurology, Multicenter study, AP5Z1, Mutation, Neurology (clinical), business, Rare disease
Abstract: Biallelic mutations in AP5Z1 are known to cause a rare, autosomal recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647)[1]. To date, only 11 SPG48 cases have been reported. The clinical spectrum of SPG48 is complex and heterogeneous, presenting with neuropathy, ataxia, dystonia and parkinsonism in addition to the spastic paraplegia (SP). AP5Z1 codes for the ζsubunit of the AP-5 complex, implicated in vesicular-mediated intracellular sorting and trafficking of cargo proteins[1] and functional studies demonstrate accumulation of multilamellar structures(endolysosomes) in SPG48 skin fibroblasts[2].
Published: 2021
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11. RNF170-related hereditary spastic paraplegia: confirmation by a novel mutation

Author: Guillaume Banneau, Laurène Tissier, Sandra Mercier, Julien Buratti, Bophara Kol, Samia Ait Said, Giovanni Stevanin, Jean-Madeleine de Sainte Agathe, Yann Péréon, Jean-Yves Mahé, Eric LeGuern, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôtel-Dieu de Nantes, 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), STEVANIN, Giovanni, 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], and 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)
Subjects: musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Hereditary spastic paraplegia, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, Spastic, Medicine, Humans, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Genetics, business.industry, Spastic Paraplegia, Hereditary, Homozygote, Spastic paraparesis, medicine.disease, nervous system diseases, Pedigree, [SDV] Life Sciences [q-bio], 030104 developmental biology, Neurology, Mutation, Neurology (clinical), medicine.symptom, business, Novel mutation, 030217 neurology & neurosurgery
Abstract: Background Spastic paraparesis and biallelic variants functionally characterized as deleterious in the RNF170 gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic paraplegia. Methods Exome sequencing was performed on 6 hereditary spastic paraplegia families previously tested on an hereditary spastic paraplegia-specific panel. Results We describe here a novel hereditary spastic paraplegia family with 4 affected members carrying a homozygous p.(Tyr114*) stop gain variant in RNF170. Conclusions We confirm the involvement of biallelic truncating variants in RNF170 in a novel form of hereditary spastic paraplegia. © 2020 International Parkinson and Movement Disorder Society.
Published: 2021

12. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Author: Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, and Nicholas Wood
Subjects: Medizin, Genetics (clinical)
Abstract: Korrektur zu 10.1038/s41436-020-0899-x
Published: 2021

13. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Author: Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood, 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), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), Université de Montpellier (UM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), CHU Strasbourg, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), University of Tübingen, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), University of Antwerp (UA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), SPATAX Network, Roux, T., Barbier, M., Papin, M., Davoine, C. -S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., Darios, F., Forlani, S., Site, P. -S., Banneau, G., Cazeneuve, C., Fontaine, B., Azulay, J. -P., Boesfplug-Tanguy, O., Hannequin, D., Hazan, J., Burgo, A., Verny, C., Koenig, M., Labauge, P., N'Guyen, K., Rodriguez, D., Belarbi, S., Hamri, A., Tazir, M., Boesch, S., Pandolfo, M., Laura, J., Guergueltcheva, V., Tournev, I., Pedraza Linares, O. L., Nielsen, J. E., Svenstrup, K., Zaki, M., Bauer, P., Schols, L., Schule, R., Lossos, A., Bassi, M. -T., Basso, M., Bertini, E., Brusco, A., Casali, C., Casari, G., Criscuolo, C., Filla, A., Orsi, L., Santorelli, F. M., Valente, E. M., Vavla, M., Vazza, G., Megarbane, A., Benomar, A., Kremer, B., Van Roon-Mom, W., Roxburgh, R., Erichsen, A. K., Tallaksen, C., Alonso, I., Coutinho, P., Loureiro, J. L., Sequeiros, J., Salih, M., Kostic, V. S., Rouco Axpe, I., Elsayed, L., Paucar, M. A., Roumani, S., Bing-Wen, S., Reid, E., Suran, N., Warner, T., and Wood, N.
Subjects: Male, Pathology, MESH: Ataxia, Purkinje cell, Medizin, MESH: Cognitive Dysfunction, 0302 clinical medicine, spinocerebellar ataxia, ATP-Dependent Proteases, SCA48, Medicine, Genetics (clinical), 0303 health sciences, Penetrance, 3. Good health, MESH: Cerebellar Ataxia, MESH: ATPases Associated with Diverse Cellular Activities, medicine.anatomical_structure, Spinocerebellar ataxia, Female, medicine.symptom, Frontotemporal dementia, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, MESH: Spinocerebellar Ataxias, Ubiquitin-Protein Ligases, Neuropathology, 03 medical and health sciences, MESH: ATP-Dependent Proteases, Atrophy, Humans, Spinocerebellar Ataxias, Cognitive Dysfunction, 030304 developmental biology, cognitive impairment, SCAR16, STUB1, MESH: Humans, Cerebellar ataxia, business.industry, medicine.disease, MESH: Ubiquitin-Protein Ligases, MESH: Male, ATPases Associated with Diverse Cellular Activities, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Human medicine, business, MESH: Female, 030217 neurology & neurosurgery
Abstract: International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large series of 440 index cerebellar ataxia cases, mostly with dominant inheritance.Results: STUB1 variants were detected in 50 patients. Age at onset and severity were remarkably variable. Cognitive impairment, predominantly frontal syndrome, was observed in 54% of STUB1 variant carriers, including five families with Huntington or frontotemporal dementia disease-like phenotypes associated with ataxia, while no STUB1 variant was found in 115 patients with frontotemporal dementia. We report neuropathological findings of a STUB1 heterozygous patient, showing massive loss of Purkinje cells in the vermis and major loss in the cerebellar hemispheres without atrophy of the pons, hippocampus, or cerebral cortex. This screening of STUB1 variants revealed new features: (1) the majority of patients were women (70%) and (2) "second hits" in AFG3L2, PRKCG, and TBP were detected in three families suggesting synergic effects.Conclusion: Our results reveal an unexpectedly frequent (7%) implication of STUB1 among dominantly inherited cerebellar ataxias, and suggest that the penetrance of STUB1 variants could be modulated by other factors, including sex and variants in other ataxia-related genes.
Published: 2020

14. Intérêt d’un panel de gènes de paraparésies spastiques héréditaires

Author: Guillaume Banneau, Alexandra Durr, Eric Le Guern, Alexis Brice, Jean-Loup Méreaux, Giovanni Stevanin, and Mélanie Papin
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Des variants dans un nombre croissant de genes sont impliques dans les paraparesies spastiques hereditaires (PSH). Le sequencage haut debit de panels multi-genes permet leur etude ciblee en un temps. Objectifs Cette etude avait pour objectif de decrire le taux de resolution diagnostique et la distribution des genes causaux identifies avec notre panel de genes. Patients et methodes Les resultats des cas index PSH testes entre decembre 2013 et juillet 2019 avec le panel de genes developpe a l’institut du cerveau et utilise a l’hopital de la Pitie-Salpetriere (Paris, France) ont ete recuperes. La version initiale du panel couvrait 65 genes. Le caractere causal des variants etait determine suivant les criteres ACMG et leur presence confirmee par une deuxieme analyse ciblee (Sanger ou MLPA). Resultats Le gene causal a ete identifie chez 472/1550 patients (30,5 %) parmi 35 des 65 genes analyses. Un variant supplementaire a ete identifie avec l’ajout de 7 genes pour les 373 derniers patients testes. Les genes les plus frequemment retrouves etaient de transmission autosomique dominante (60,4 %) avec SPAST (9,1 % des patients), KIF1A (2,2 %) et ATL1 (2,2 %) et recessive (39,4 %) avec SPG7 (4,8 %) et SPG11 (1,7 %). Les variants structuraux representaient 6,0 % des variants pathogenes (1,9 % des patients). Discussion Il s’agit de la plus grande serie validant les performances diagnostiques courantes d’un panel de genes dans les PSH. L’etude d’un grand nombre de genes en une analyse facilite la mise en evidence de genes rares et varies. La couverture de sequencage optimisee permettait la detection de variants structuraux, critique en raison de leur proportion non negligeable. Conclusion Les panels sont performants comme premiere exploration genetique des PSH. La connaissance de la repartition des genes causaux va permettre de renforcer la recherche sur les formes affectant le plus grand nombre de patients.
Published: 2021

15. Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

Author: Jean-Philippe Camdessanché, Emilien Bernard, Jean-Christophe Antoine, Guillaume Banneau, Etienne Allart, Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, Gabrielle Rudolf, Giovanni Stevanin, Christine Tranchant, Véronique Danel-Brunaud, Marie-Céline Fleury, Stéphanie Millecamps, Mathieu Anheim, 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), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie et Pathologie du Mouvement, Hôpital Roger Salengro, Centre Hospitalier Universitaire (CHU) de Lille, CHU de Lille, Service de neurologie [CHU de Saint-Étienne], Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Service de Neurologie [CHU Strasbourg], Hôpital de Hautepierre [Strasbourg]-Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg ), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, Service de Neurologie [Hospices civils de Lyon - Hôpital Pierre Wertheimer], Hospices Civils de Lyon (HCL)-Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), MILLECAMPS, Stéphanie, 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), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Hereditary spastic paraplegia, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, 03 medical and health sciences, 0302 clinical medicine, C9orf72, medicine, Spasticity, Amyotrophic lateral sclerosis, Exome, Tetraplegia, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Bulbar palsy, Genetics, 0303 health sciences, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology (clinical), medicine.symptom, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
Abstract: ObjectiveThe aim of this study was to evaluate whether mutations in ERLIN2, known to cause SPG18, a recessive hereditary spastic paraplegia (SP) responsible for the degeneration of the upper motor neurons leading to weakness and spasticity restricted to the lower limbs, could contribute to amyotrophic lateral sclerosis (ALS), a distinct and more severe motor neuron disease (MND), in which the lower motor neurons also profusely degenerates, leading to tetraplegia, bulbar palsy, respiratory insufficiency, and ultimately the death of the patients.MethodsWhole-exome sequencing was performed in a large cohort of 200 familial ALS and 60 sporadic ALS after a systematic screening for C9orf72 hexanucleotide repeat expansion. ERLIN2 variants identified by exome analysis were validated using Sanger analysis. Segregation of the identified variant with the disease was checked for all family members with available DNA.ResultsHere, we report the identification of ERLIN2 mutations in patients with a primarily SP evolving to rapid progressive ALS, leading to the death of the patients. These mutations segregated with the disease in a dominant (V168M) or recessive (D300V) manner in these families or were found in apparently sporadic cases (N125S).ConclusionsInheritance of ERLIN2 mutations appears to be, within the MND spectrum, more complex that previously reported. These results expand the clinical phenotype of ERLIN2 mutations to a severe outcome of MND and should be considered before delivering a genetic counseling to ERLIN2-linked families.
Published: 2019

16. Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

Author: Anne Gomez-Brouchet, Nicolas Reina, Matthias Tallegas, Françoise Rédini, Marie Karanian, Aurélien de Reyniès, Mira Ayadi, Corinne Labit-Bouvier, Frédérique Larousserie, Philippe Anract, Béatrice Marie, Lucile Armenoult, Guillaume Banneau, Louis-Romée Le Nail, Anne-Valérie Decouvelaere, Gonzague de Pinieux, Sébastien Aubert, Nabila Elarouci, François Gouin, and Rémy Nicolle
Subjects: 0301 basic medicine, DNA Copy Number Variations, Science, Chondrosarcoma, General Physics and Astronomy, Bone Neoplasms, Biology, Malignancy, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Recurrence, CDKN2A, microRNA, Cancer genomics, Bone cancer, medicine, Humans, Point Mutation, lcsh:Science, Cell Proliferation, Retrospective Studies, Multidisciplinary, Gene Expression Profiling, Point mutation, Cell Cycle, food and beverages, Cell Differentiation, Sarcoma, General Chemistry, DNA Methylation, Cell cycle, medicine.disease, Survival Analysis, Gene expression profiling, MicroRNAs, 030104 developmental biology, 030220 oncology & carcinogenesis, DNA methylation, Disease Progression, Cancer research, lcsh:Q
Abstract: Chondrosarcomas are primary cancers of cartilaginous tissue with highly contrasting prognoses. These tumors are defined by recurrent mutations in the IDH genes and other genetic alterations including inactivation of CDKN2A and COL2A1; however, these have no clinical value. Here we use multi-omics molecular profiles from a series of cartilage tumors and find an mRNA classification that identifies two subtypes of chondrosarcomas defined by a balance in tumor differentiation and cell cycle activation. The microRNA classification reveals the importance of the loss of expression of the 14q32 locus in defining the level of malignancy. Finally, DNA methylation is associated with IDH mutations. We can use the multi-omics classifications to predict outcome. We propose an mRNA-only classifier to reproduce the integrated multi-omics classification, and its application to relapsed tumor samples shows the progressive nature of the classification. Thus, it may be possible to use mRNA-based signatures to detect patients with high-risk chondrosarcomas., Chondrosarcomas are heterogenous tumours of the bone cartilage and have highly variable prognoses. Here, the authors perform a multi-omics analysis, revealing molecular features that can stratify clinical outcomes.
Published: 2019

17. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

Author: Cecilia Marelli, Alexandra Durr, Patrick J. Babin, David Hajage, Elodie Petit, Elisabeth Ollagnon, Isabelle Coupry, Giovanni Castelnovo, Claire Ewenczyk, Christel Thauvin-Robinet, Urielle Ullmann, Gaetan Lesca, Foudil Lamari, Marie-Lorraine Monin, Sylvie Odent, Claude Wolf, Pierre Labauge, Dominique Rainteau, Cyril Goizet, Julie Pilliod, Alexandre Lafourcade, Julie Lavie, Fanny Mochel, Guillaume Banneau, Imen Benyounes, Claire Guissart, Rabab Debs, Lydie Humbert, Giovanni Stevanin, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], 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), Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Pharmacoépidémiologie de l'AP-HP (Cephepi), Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique [CHU Pitié Salpêtrière], 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), Unité de neurophysiologie [CHU Saint-Antoine], 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), Service des Maladies du Système Nerveux [CHU Pitié-Salpêtrière], Service de Neurologie [CHU Nimes] (Pôle NIRR), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)-Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire [Rennes], Service de pharmacologie - Dosage de médicaments [CHU Saint-Antoine], École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université de Paris (UP), 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)-CHU Pitié-Salpêtrière [AP-HP]
Subjects: Male, 0301 basic medicine, spastic paraplegia type 5, Atorvastatin, Gastroenterology, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, Chenodeoxycholic acid, Spastic, Medicine, Child, Neurologic Examination, Anticholesteremic Agents, Deoxycholic acid, atorvastatin, Middle Aged, Magnetic Resonance Imaging, 3. Good health, Cholesterol, oxysterols, Female, chenodeoxycholic acid, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Deoxycholic Acid, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Oxysterol, CYP7B1, Cytochrome P450 Family 7, Bile Acids and Salts, Young Adult, 03 medical and health sciences, Internal medicine, Humans, Spastic Paraplegia, Hereditary, business.industry, Infant, biomarkers, Crossover study, Hydroxycholesterols, 030104 developmental biology, ROC Curve, chemistry, Resveratrol, Mutation, Steroid Hydroxylases, sense organs, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: IF 10.292; International audience; The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. We developed a method based on ultra-performance liquid chromatography electrospray tandem mass spectrometry to validate two plasma 25-hydroxycholesterol (25-OHC) and 27-hydroxycholesterol (27-OHC) as diagnostic biomarkers in a cohort of 21 patients with SPG5. For 14 patients, SPG5 was initially suspected on the basis of genetic analysis, and then confirmed by increased plasma 25-OHC, 27-OHC and their ratio to total cholesterol. For seven patients, the diagnosis was initially based on elevated plasma oxysterol levels and confirmed by the identification of two causal CYP7B1 mutations. The receiver operating characteristic curves analysis showed that 25-OHC, 27-OHC and their ratio to total cholesterol discriminated between SPG5 patients and healthy controls with 100% sensitivity and specificity. Taking advantage of the robustness of these plasma oxysterols, we then conducted a phase II therapeutic trial in 12 patients and tested whether candidate molecules (atorvastatin, chenodeoxycholic acid and resveratrol) can lower plasma oxysterols and improve bile acids profile. The trial consisted of a three-period, three-treatment crossover study and the six different sequences of three treatments were randomized. Using a linear mixed effect regression model with a random intercept, we observed that atorvastatin decreased moderately plasma 27-OHC (∼30%, P < 0.001) but did not change 27-OHC to total cholesterol ratio or 25-OHC levels. We also found an abnormal bile acids profile in SPG5 patients, with significantly decreased total serum bile acids associated with a relative decrease of ursodeoxycholic and lithocholic acids compared to deoxycholic acid. Treatment with chenodeoxycholic acid restored bile acids profile in SPG5 patients. Therefore, the combination of atorvastatin and chenodeoxycholic acid may be worth considering for the treatment of SPG5 patients but the neurological benefit of these metabolic interventions remains to be evaluated in phase III therapeutic trials using clinical, imaging and/or electrophysiological outcome measures with sufficient effect sizes. Overall, our study indicates that plasma 25-OHC and 27-OHC are robust diagnostic biomarkers of SPG5 and shall be used as first-line investigations in any patient with unexplained spastic paraplegia.
Published: 2017

18. An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

Author: Perrine Pennamen, Jean-Thomas Perez, Marie Rouanet, Emilie Obre, Clémence Bailly-Scappaticci, Aurélien Trimouille, Fabienne Clot, Alexandra Durr, Guilhem Solé, Stéphane Mathis, Cyril Goizet, Guillaume Banneau, Claire Delleci, and Giovanni Stevanin
Subjects: Adult, Male, 0301 basic medicine, business.industry, Frame (networking), General Medicine, Middle Aged, Spinal Muscular Atrophies of Childhood, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Humans, Medicine, Female, Surgery, Computer vision, Neurology (clinical), Artificial intelligence, business, Microtubule-Associated Proteins, Gene Deletion, 030217 neurology & neurosurgery
Published: 2018

19. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Author: Ludger Schöls, Isabelle Migeotte, Claire Sophie Davoine, Mélanie Papin, Pegah Masrori, Bart P.C. van de Warrenburg, Rebecca Schüle, Mathieu Anheim, Marc D'Hooghe, Elisabeth Ollagnon-Roman, Charles Duyckaerts, Claire Ewenczyk, Andrea Martinuzzi, Jonathan Baets, Marie Lorraine Monin, Giulia Coarelli, T Deconinck, Maria Grazia D'Angelo, Sophie Tezenas du Montcel, Alexis Brice, Thomas Klockgether, Delia Kurzwelly, Fanny Mochel, Perrine Charles, Peter De Jonghe, Elisa E.G. Hamer, Matthis Synofzik, B. Fontaine, Maria Teresa Bassi, Christoph Kamm, Danielle Seilhean, Giovanni Stevanin, Thomas Klopstock, Jan De Bleecker, Alexandra Durr, Guillaume Banneau, 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), Service de Neurochirurgie [CHU Pitié-Salpêtrière], 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), Hertie-Institute for Clinical Brain Research, Département de Neurologie, CHU Strasbourg, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Département de Biostatistique, Santé Publique et Information Médicale [CHU Pitié-Salpêtrière] (BIOSPIM ), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuropathologie [CHU Pitié Salpêtrière], Laboratoire de Neuropathologie Raymond Escourolle, and Centre de Recherche en Myologie
Subjects: 0301 basic medicine, Male, physiopathology [Paraplegia], Gastroenterology, Cohort Studies, genetics [Metalloendopeptidases], 0302 clinical medicine, Loss of Function Mutation, Spastic, genetics [ATPases Associated with Diverse Cellular Activities], genetics [Cerebellar Ataxia], Metalloendopeptidases, Sensory loss, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, genetics [European Continental Ancestry Group], Phenotype, Cohort, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, physiopathology [Cerebellar Ataxia], Paraplegia, Adult, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, genetics [White People], SPG7 protein, human, Polymorphism, Single Nucleotide, Article, White People, genetics [Paraplegia], 03 medical and health sciences, Young Adult, Atrophy, Neurologie, Internal medicine, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], medicine, Humans, Spasticity, ddc:610, Cerebellar ataxia, business.industry, Electromyography, Spastic Paraplegia, Hereditary, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery
Abstract: Objective: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7). Methods: We analyzed clinical and genetic data from 241 patients with SPG7, integrating neurologic follow-up data. One case was examined neuropathologically. Results: Patients with SPG7 had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria (p < 0.05), deep sensory loss (p < 0.01), muscle wasting (p < 0.01), ophthalmoplegia (p < 0.05), and sphincter dysfunction (p < 0.05) than those with a shorter duration (, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2019

20. Paraplegie spastiche ereditarie

Author: Cyril Goizet, Guillaume Banneau, and C Coignion
Subjects: 0301 basic medicine, Physics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Humanities, 030217 neurology & neurosurgery
Abstract: Le paraplegie spastiche ereditarie (PSE), o malattia di Strumpell-Lorrain, sono caratterizzate da una spasticita e debolezza progressive degli arti inferiori. Esse sono legate a una degenerazione distale retrograda e bilaterale dei fasci corticospinali. L’evoluzione e, in genere, lenta e graduale, con notevoli variazioni relativamente a eta di insorgenza e gravita. Si distinguono le forme pure dalle forme complesse. Le PSE sono trasmesse secondo tutte le modalita ereditarie e oltre 70 geni sono stati successivamente localizzati o identificati. Diversi meccanismi fisiopatologici sono stati via via individuati, tra cui le alterazioni del trasporto intracellulare, le anomalie dello sviluppo assonale e della mielina, le disfunzioni mitocondriali e il metabolismo anomalo di alcuni lipidi. Questo articolo si propone di riassumere le attuali conoscenze, in continua evoluzione, nel vasto campo delle PSE.
Published: 2016

21. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

Author: François Rivier, Alexandra Durr, Nicolas Pietrancosta, Guja Astrea, Laetitia Fouillen, Cyril Goizet, Giovanni Stevanin, Patrick J. Babin, Claire Pujol, Khalid H. El-Hachimi, Jean-Luc Boucher, Stéphanie Jacqueré, Isabelle Coupry, Filippo M. Santorelli, Giovanni Benard, Daniel Mansuy, Guillaume Banneau, Alessandra Tessa, Christelle M Durand, Laura Dhers, Laure Raymond, Frédéric Darios, Didier Lacombe, Christelle Tesson, Institut de Radioprotection et de Sûreté Nucléaire (IRSN), Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), 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)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], Unit of Molecular Medicine, IRCCS, Biologie du fruit et pathologie (BFP), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1, Université de Bordeaux (UB), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), U1211 Laboratoire Maladies Rares: Génétique et Métabolisme, Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie du système nerveux central - Institut François Magendie, Université Bordeaux Segalen - Bordeaux 2-IFR8-Institut National de la Santé et de la Recherche Médicale (INSERM), École pratique des hautes études (EPHE), IRCCS Fondazione Stella Maris, Molecular Medicine, Calambrone, Italy., Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Validation et identification de nouvelles cibles en oncologie (VINCO), Université Bordeaux Segalen - Bordeaux 2-Institut Bergonié - CRLCC Bordeaux-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Bordeaux Segalen - Bordeaux 2, IRCCS Fondazione Stella Maris, CHU de Bordeaux Pellegrin [Bordeaux], Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut de Chimie du CNRS (INC)-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), Université Paris sciences et lettres (PSL), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Bergonié [Bordeaux], and UNICANCER-UNICANCER-Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: 0301 basic medicine, Models, Molecular, Heme binding, Hereditary spastic paraplegia, Protein Conformation, diagnosis, In silico, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Mutation, Missense, Gene Expression, Biology, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Allele, Cytochrome P450 Family 2, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Alleles, Genetic Association Studies, Spastic Paraplegia, Hereditary, HEK 293 cells, SPG56, CYP2U1, medicine.disease, Phenotype, 3. Good health, Enzyme Activation, 030104 developmental biology, HEK293 Cells, arachidonic acid metabolism, Amino Acid Substitution, Oxidation-Reduction, 030217 neurology & neurosurgery, biological validation
Abstract: International audience; Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. SPG56 is a rare autosomal recessive early onset complicated form of HSP caused by mutations in CYP2U1. The CYP2U1 enzyme was shown to catalyze the hydroxylation of arachidonic acid. Here, we report two further SPG56 families carrying three novel CYP2U1 missense variants and the development of an in vitro biochemical assay to determine the pathogenicity of missense variants of uncertain clinical significance. We compared spectroscopic, enzymatic, and structural (from a 3D model) characteristics of the over expressed wild-type or mutated CYP2U1 in HEK293T cells. Our findings demonstrated that most of the tested missense variants in CYP2U1 were functionally inactive because of a loss of proper heme binding or destabilization of the protein structure. We also showed that functional data do not necessarily correlate with in silico predictions of variants pathogenicity, using different bioinformatic phenotype prediction tools. Our results therefore highlight the importance to use biological tools, such as the enzymatic test set up in this study, to evaluate the effects of newly identified variants in clinical settings.
Published: 2018

22. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

Author: Chantal M. E. Tallaksen, Alexandra Durr, Sophie Tezenas du Montcel, Silvia Fenu, Bertrand Sablonniere, Charles Duyckaerts, Christel Depienne, Alexis Brice, Justine Guegan, Giovanni Stevanin, Guillaume Banneau, Samia Ait Said, Mathieu Barbier, Marie-Lorraine Monin, Livia Parodi, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Sorbonne Université (SU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Oslo University Hospital [Oslo], Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université Paris sciences et lettres (PSL), École pratique des hautes études (EPHE), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), 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), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), and École Pratique des Hautes Études (EPHE)
Subjects: Adult, Male, 0301 basic medicine, Spastin, Genotype, Mutation, Missense, Pyramidal Tracts, Medizin, Physiology, Neuropathology, medicine.disease_cause, Severity of Illness Index, Frameshift mutation, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, medicine, Humans, Missense mutation, Age of Onset, Mutation, Spastic Paraplegia, Hereditary, business.industry, Middle Aged, Penetrance, 3. Good health, Phenotype, 030104 developmental biology, Spinocerebellar Tracts, Corticospinal tract, Disease Progression, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), Age of onset, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract: International audience; Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by progressive distal degeneration of the corticospinal tracts. Among the 79 loci and 65 spastic paraplegia genes (SPGs) involved in HSPs, mutations in SPAST, which encodes spastin, responsible for SPG4, are the most frequent cause of both familial and sporadic HSP. SPG4 is characterized by a clinically pure phenotype associated with restricted involvement of the corticospinal tracts and posterior columns of the spinal cord. It is rarely associated with additional neurological signs. However, both age of onset and severity of the disorder are extremely variable. Such variability is both intra- and inter-familial and may suggest incomplete penetrance, with some patients carrying mutations remaining asymptomatic for their entire life. We analysed a cohort of 842 patients with SPG4-HSP to assess genotype-phenotype correlations. Most patients were French (89%) and had a family history of SPG4-HSP (75%). Age at onset was characterized by a bimodal distribution, with high inter-familial and intra-familial variability, especially concerning first-degree relatives. Penetrance of the disorder was 0.9, complete after 70 years of age. Penetrance was lower in females (0.88 versus 0.94 in males, P = 0.01), despite a more diffuse phenotype with more frequent upper limb involvement. Seventy-seven per cent of pathogenic mutations (missense, frameshift, splice site, nonsense, and deletions) were located in the AAA cassette of spastin, impairing its microtubule-severing activity. A comparison of the missense and truncating mutations revealed a significantly lower age at onset for patients carrying missense mutations than those carrying truncating mutations, explaining the bimodal distribution of the age at onset. The age at onset for patients carrying missense mutations was often before 10 years, sometimes associated with intellectual deficiency. Neuropathological examination of a single case showed degeneration of the spinocerebellar and spinocortical tracts, as well as the posterior columns. However, there were numerous small-diameter processes among unusually large myelinated fibres in the corticospinal tract, suggesting marked regeneration. In conclusion, this large cohort of 842 individuals allowed us to identify a significantly younger age at onset in missense mutation carriers and lower penetrance in females, despite a more severe disorder. Neuropathology in one case showed numerous small fibres suggesting regeneration.
Published: 2018

23. Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review

Author: Nathalie Voirand, Sébastien Richard, Karine Lavandier, Guillaume Banneau, Julie Lavie, and Marc Debouverie
Subjects: 0301 basic medicine, progressive paraparesis, corticospinal tract, Hereditary spastic paraplegia, MEDLINE, Bioinformatics, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Slow progression, Medicine, Humans, Clinical Case Report, SPG31, hereditary spastic paraplegia, Frameshift Mutation, Gene, Heterogeneous group, gait disorders, business.industry, Spastic Paraplegia, Hereditary, REEP1 mutation, Membrane Transport Proteins, General Medicine, Middle Aged, medicine.disease, nervous system diseases, Clinical Practice, 030104 developmental biology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, REEP1, Female, business, Novel mutation, 030217 neurology & neurosurgery, Research Article
Abstract: Supplemental Digital Content is available in the text, Rationale: Hereditary spastic paraplegia (HSP) is a heterogeneous group of diseases little known in clinical practice due to its low prevalence, slow progression, and difficult diagnosis. This results in an underestimation of HSP leading to belated diagnosis and management. In depth diagnosis is based on clinical presentation and identification of genomic mutations. We describe the clinical presentation and pathogeny of HSP through a report of a case due to a novel mutation of the REEP1 gene (SPG31). Patient concerns: A 64-year-old woman presented gait disturbances due to spasticity of the lower limbs progressing since her third decade. Previous investigations failed to find any cause. Interventions: DNA analysis was performed to search for HSP causing mutations. Diagnoses: A novel heterozygote mutation (c.595 + 1G>A) of the REEP1 gene, within the splice site of intron 6, was discovered. This nucleotide change causes exon 6 skipping leading to frame shift and a truncated transcript identified by complementary DNA sequencing of reverse transcription polymerase chain reaction products. Outcomes: REEP1 is a known protein predominantly located in the upper motor neurons. Mutation of REEP1 primary affects the longest axons explaining predominance of pyramidal syndrome on lower limbs. Lessons: Slow progressive pyramidal syndrome of the lower limbs should elicit a diagnosis of HSP. We describe a novel mutation of the REEP1 gene causing HSP. Pathogeny is based on resulting abnormal REEP1 protein which is involved in the development of longest axons constituting the corticospinal tracts.
Published: 2017

24. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

Author: Didier Lacombe, Isabelle Kieffer, Caroline Rooryck, Anja Knoll-Gellida, Laurence Bouneau, Fabienne Nacka, Béatrice Jouret, Sophie Julia, Georges Bourrouillou, Marie-Laure Vuillaume, Adeline Vigouroux, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, David Geneviève, Jérôme Toutain, Sophie Naudion, Maithé Tauber, Pierre Sarda, Julie Bouron, Benoit Arveiler, Pascal Barat, Patrick J. Babin, Laurence Faivre, Marie-Ange Delrue, Eric Bieth, and Dorothée Cailley
Subjects: Male, CNTNAP2, Candidate gene, DNA Copy Number Variations, Quantitative Trait Loci, Gene Expression, Chromosome Disorders, Biology, Bioinformatics, Gene duplication, Intellectual disability, Genetics, medicine, Humans, Obesity, Copy-number variation, Child, Genetic Association Studies, Genetics (clinical), Chromosome Aberrations, Comparative Genomic Hybridization, Infant, Genomics, Syndrome, medicine.disease, Phenotype, Child, Preschool, Cohort, Etiology, Female, Genome-Wide Association Study, Comparative genomic hybridization
Abstract: Syndromic obesity is defined by the association of obesity with one or more feature(s) including developmental delay, dysmorphic traits, and/or congenital malformations. Over 25 syndromic forms of obesity have been identified. However, most cases remain of unknown etiology. The aim of this study was to identify new candidate loci associated with syndromic obesity to find new candidate genes and to better understand molecular mechanisms involved in this pathology. We performed oligonucleotide microarray-based comparative genomic hybridization in a cohort of 100 children presenting with syndromic obesity of unknown etiology, after exhaustive clinical, biological, and molecular studies. Chromosomal copy number variations were detected in 42% of the children in our cohort, with 23% of patients with potentially pathogenic copy number variants. Our results support that chromosomal rearrangements are frequently associated with syndromic obesity with a variety of contributory genes having relevance to either obesity or developmental delay. A list of inherited or apparently de novo duplications and deletions including their enclosed genes and not previously linked to syndromic obesity was established. Proteins encoded by several of these genes are involved in lipid metabolism (ACOXL, MSMO1, MVD, and PDZK1) linked with nervous system function (BDH1 and LINGO2), neutral lipid storage (PLIN2), energy homeostasis and metabolic processes (CDH13, CNTNAP2, CPPED1, NDUFA4, PTGS2, and SOCS6).
Published: 2014

25. Comprehensive analysis of PTEN status in breast carcinomas

Author: Gaëtan MacGrogan, Marie Lafitte, Michel Longy, Sana Sfar, Christine Tunon de Lara, Natalie Jones, Françoise Bonnet, Nicolas Sevenet, Véronique Brouste, Marc Debled, Guillaume Banneau, Delfine Lafon, and Ghislaine Sierankowski
Subjects: Cancer Research, biology, Estrogen receptor, medicine.disease, Bioinformatics, Gene dosage, Breast cancer, Oncology, Hormone receptor, Chromosome instability, Cancer research, Carcinoma, medicine, biology.protein, PTEN, PI3K/AKT/mTOR pathway
Abstract: PTEN plays a well-established role in the negative regulation of the PI3K pathway, which is frequently activated in several cancer types, including breast cancer. A nuclear function in the maintenance of chromosomal stability has been proposed for PTEN but is yet to be clearly defined. In order to improve understanding of the role of PTEN in mammary tumorigenesis in terms of a possible gene dosage effect, its PI3K pathway function and its association with p53, we undertook comprehensive analysis of PTEN status in 135 sporadic invasive ductal carcinomas. Four PTEN status groups were defined; complete loss (19/135, 14%), reduced copy number (19/135, 14%), normal (86/135, 64%) and complex (11/135, 8%). Whereas the PTEN complete loss status was significantly associated with estrogen receptor (ER) negativity (p=0.006) and in particular the basal-like phenotype (p
Published: 2013

26. SPG11 : caractéristiques cliniques et histoire naturelle

Author: Marie-Lorraine Monin, Stevanin Giovanni, Alexandra Durr, Guillaume Banneau, Mélanie Papin, Perrine Charles, and Brice Alexis
Subjects: Neurology, Neurology (clinical)
Abstract: Introduction Les paraparesies spastiques hereditaires sont cliniquement et genetiquement heterogenes. SPG11, la plus frequente des formes autosomiques recessives, appartient aux formes complexes, debutant precocement, avec corps calleux fin et deficience intellectuelle. Objectifs Notre objectif est de mieux definir l’histoire naturelle de la maladie, de preciser les caracteristiques cliniques et paracliniques de la maladie en vue de mettre en place un suivi longitudinal. Methodes Nous avons analyse les donnees cliniques et paracliniques de 220 patients, connus de notre consultation du CRMR (n = 48) et/ou du laboratoire realisant l’analyse en diagnostic (n = 62) ainsi qu’en recherche dans le reseau SPATAX (n = 110). Resultats Les caracteristiques cliniques de 98 patients etaient disponibles. Au total, 42 % (35/83) etaient porteurs de mutations homozygotes liees a une consanguinite, 12,5 % des patients etaient d’origine francaise. L’âge de debut moyen etait de 13,4 ± 5,3 ans [1–28]. Le Spinocerebellar Disability Functional Score (score SDFS) moyen etait a 4/7 (aide unilaterale a la marche) avec un âge moyen a l’examen de 25,5 ± 7,7 ans [10–49]. Au total, 23 patients etaient au fauteuil avec un âge moyen de 23 ans [16–36]. Discussion SPG11 est une PSH complexe debutant le plus souvent dans l’enfance, parfois par un retard des acquisitions puis l’apparition du syndrome pyramidal accompagne souvent d’un syndrome cerebelleux. L’evolution severe de la maladie semble liee a une atteinte progressive de la corne anterieure. Conclusion Cette serie de patients SPG11 vient enrichir les connaissances cliniques, en vue de pouvoir preciser l’evolution souvent severe, qui semble correlee a une atteinte progressive du premier et deuxieme motoneurones.
Published: 2018

27. An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis

Author: Charles Theillet, Guillaume Banneau, Michel Longy, Véronique Brouste, Aurélien de Reyniès, Charlotte Primois, Gaëtan MacGrogan, Marc Debled, Christine Tunon de Lara, Natalie Jones, Béatrice Orsetti, Nabila Elarouci, Sana Sfar, Mickaël Guedj, Isabelle de Mascarel, Françoise Bonnet, Nicolas Sevenet, Pathologie Centre de lutte contre le cancer, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Validation et identification de nouvelles cibles en oncologie (VINCO), UNICANCER-UNICANCER-Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), 'Cartes d'Identité des Tumeurs ' program (CIT), Ligue Nationale Contre le Cancer, Unité de Recheche et d'Epidémiologie Cliniques (UREC), Institut de recherche en cancérologie de Montpellier (IRCM - U896 Inserm - UM1), CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 1 (UM1), Service de Chirurgie, Service d'Oncologie Médicale, Service de Pathologie, This work was also funded by the 'Institut National du Cancer' (INCa) grant GSO -ACI 2004 renewed 2007, by the Dordogne Cancer League and the Lions Club of Bergerac. NJ was funded by the Association pour la Recherche sur le Cancer (ARC) and SS by the Institut Bergonié., BMC, Ed., Ligue Nationale Contre le Cancer (LNCC), and Université Montpellier 1 (UM1)-CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)
Subjects: Genome instability, Genetic instability, Array CGH, Bioinformatics, 0302 clinical medicine, Breast cancer, Recurrence, Cluster Analysis, Genetics(clinical), Stage (cooking), Lymph node, Genetics (clinical), 0303 health sciences, Comparative Genomic Hybridization, Middle Aged, Prognosis, 3. Good health, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Lymphatic Metastasis, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, Research Article, Adult, lcsh:Internal medicine, lcsh:QH426-470, Breast Neoplasms, Biology, Genomic Instability, 03 medical and health sciences, Text mining, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Genetics, Humans, lcsh:RC31-1245, 030304 developmental biology, Aged, business.industry, Genome, Human, Gene Expression Profiling, medicine.disease, Human genetics, lcsh:Genetics, Mutation, Human genome, Lymph Nodes, Tumor Suppressor Protein p53, business, Comparative genomic hybridization, Follow-Up Studies
Abstract: Background Despite entering complete remission after primary treatment, a substantial proportion of patients with early stage breast cancer will develop metastases. Prediction of such an outcome remains challenging despite the clinical use of several prognostic parameters. Several reports indicate that genomic instability, as reflected in specific chromosomal aneuploidies and variations in DNA content, influences clinical outcome but no precise definition of this parameter has yet been clearly established. Methods To explore the prognostic value of genomic alterations present in primary tumors, we performed a comparative genomic hybridization study on BAC arrays with a panel of breast carcinomas from 45 patients with metastatic relapse and 95 others, matched for age and axillary node involvement, without any recurrence after at least 11 years of follow-up. Array-CGH data was used to establish a two-parameter index representative of the global level of aneusomy by chromosomal arm, and of the number of breakpoints throughout the genome. Results Application of appropriate thresholds allowed us to distinguish three classes of tumors highly associated with metastatic relapse. This index used with the same thresholds on a published set of tumors confirms its prognostic significance with a hazard ratio of 3.24 [95CI: 1.76-5.96] p = 6.7x10-5 for the bad prognostic group with respect to the intermediate group. The high prognostic value of this genomic index is related to its ability to individualize a specific group of breast cancers, mainly luminal type and axillary node negative, showing very high genetic instability and poor outcome. Indirect transcriptomic validation was obtained on independent data sets. Conclusion Accurate evaluation of genetic instability in breast cancers by a genomic instability index (G2I) helps individualizing specific tumors with previously unexpected very poor prognosis.
Published: 2012

28. Comprehensive analysis of PTEN status in breast carcinomas

Author: Natalie, Jones, Françoise, Bonnet, Sana, Sfar, Marie, Lafitte, Delfine, Lafon, Ghislaine, Sierankowski, Véronique, Brouste, Guillaume, Banneau, Christine, Tunon de Lara, Marc, Debled, Gaëtan, MacGrogan, Michel, Longy, and Nicolas, Sevenet
Subjects: Class I Phosphatidylinositol 3-Kinases, Receptor, ErbB-2, Carcinoma, Ductal, Breast, DNA Mutational Analysis, PTEN Phosphohydrolase, Prognosis, Immunohistochemistry, Chromosomes, Gene Expression Regulation, Neoplastic, Phosphatidylinositol 3-Kinases, Receptors, Estrogen, Chromosomal Instability, Humans, Point Mutation, Female, Lymph Nodes, Tumor Suppressor Protein p53, Alleles, In Situ Hybridization, Fluorescence
Abstract: PTEN plays a well-established role in the negative regulation of the PI3K pathway, which is frequently activated in several cancer types, including breast cancer. A nuclear function in the maintenance of chromosomal stability has been proposed for PTEN but is yet to be clearly defined. In order to improve understanding of the role of PTEN in mammary tumorigenesis in terms of a possible gene dosage effect, its PI3K pathway function and its association with p53, we undertook comprehensive analysis of PTEN status in 135 sporadic invasive ductal carcinomas. Four PTEN status groups were defined; complete loss (19/135, 14%), reduced copy number (19/135, 14%), normal (86/135, 64%) and complex (11/135, 8%). Whereas the PTEN complete loss status was significantly associated with estrogen receptor (ER) negativity (p=0.006) and in particular the basal-like phenotype (p0.0001), a reduced PTEN copy number was not associated with hormone receptor status or a particular breast cancer subtype. Overall, PI3K pathway alteration was suggested to be involved in 59% (79/134) of tumors as assessed by human epidermal growth factor receptor 2 overexpression, PIK3CA mutation or a complete loss of PTEN. A complex PTEN status was identified in a tumor subgroup which displayed a specific, complex DNA profile at the PTEN locus with a strikingly similar highly rearranged pan-genomic profile. All of these tumors had relapsed and were associated with a poorer prognosis in the context of node negative disease (p=1.4 × 10(-13) ) thus may represent a tumor subgroup with a common molecular alteration which could be targeted to improve clinical outcome.
Published: 2012

29. Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations

Author: Aurélien de Reyniès, Natalie Jones, Audrey Rouault, Guillaume Banneau, Françoise Bonnet, Michel Longy, Gaëtan MacGrogan, Laurence Venat, Emmanuelle Barouk-Simonet, Richard Iggo, Eric Letouzé, Isabelle Coupier, Nabila Elarouci, and Nicolas Sevenet
Subjects: endocrine system diseases, Genes, BRCA2, medicine.disease_cause, Transcriptomes, Breast Tumors, Cluster Analysis, skin and connective tissue diseases, In Situ Hybridization, Fluorescence, Genetics, Mutation, Comparative Genomic Hybridization, Multidisciplinary, medicine.diagnostic_test, Cancer Risk Factors, Obstetrics and Gynecology, Genomics, Middle Aged, Gene Expression Regulation, Neoplastic, Oncology, Medicine, Female, Chromosome Deletion, Research Article, Adult, Science, Genetic Causes of Cancer, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Germline mutation, Breast cancer, Genetic Mutation, Genome Analysis Tools, Breast Cancer, medicine, Cancer Genetics, Humans, Genetic Predisposition to Disease, Gene, Germ-Line Mutation, Chromosome 13, Aged, Chromosomes, Human, Pair 14, Evolutionary Biology, Chromosomes, Human, Pair 13, Gene Expression Profiling, Cancers and Neoplasms, Reproducibility of Results, medicine.disease, Gene expression profiling, ROC Curve, Population Genetics, Comparative genomic hybridization, Fluorescence in situ hybridization
Abstract: IntroductionGermline BRCA1 or BRCA2 mutations account for 20-30% of familial clustering of breast cancer. The main indication for BRCA2 screening is currently the family history but the yield of mutations identified in patients selected this way is low.MethodsTo develop more efficient approaches to screening we have compared the gene expression and genomic profiles of BRCA2-mutant breast tumors with those of breast tumors lacking BRCA1 or BRCA2 mutations.ResultsWe identified a group of 66 genes showing differential expression in our training set of 7 BRCA2-mutant tumors and in an independent validation set of 19 BRCA2-mutant tumors. The differentially expressed genes include a prominent cluster of genes from chromosomes 13 and 14 whose expression is reduced. Gene set enrichment analysis confirmed that genes in specific bands on 13q and 14q showed significantly reduced expression, suggesting that the affected bands may be preferentially deleted in BRCA2-mutant tumors. Genomic profiling showed that the BRCA2-mutant tumors indeed harbor deletions on chromosomes 13q and 14q. To exploit this information we have created a simple fluorescence in situ hybridization (FISH) test and shown that it detects tumors with deletions on chromosomes 13q and 14q.ConclusionTogether with previous reports, this establishes that deletions on chromosomes 13q and 14q are a hallmark of BRCA2-mutant tumors. We propose that FISH to detect these deletions would be an efficient and cost-effective first screening step to identify potential BRCA2-mutation carriers among breast cancer patients without a family history of breast cancer.
Published: 2012

30. Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

Author: Michel Longy, Mickaël Guedj, Gaëtan MacGrogan, Aurélien de Reyniès, Olivier Ingster, Guillaume Banneau, Richard Iggo, Nicolas Sevenet, Isabelle de Mascarel, Pierre Vabres, Albert David, Valérie Bonadona, Catherine Dugast, Frédéric Caux, Françoise Bonnet, Brigitte Gilbert-Dussardier, Renaud Schiappa, Valérie Velasco, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Validation et identification de nouvelles cibles en oncologie (VINCO), Institut Bergonié [Bordeaux], UNICANCER-UNICANCER-Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Programme 'Carte d'Identité des Tumeurs', Ligue Nationale Contre le Cancer, Département de pathologie, UNICANCER-UNICANCER, Service d'oncogénétique, Centre Léon Bérard [Lyon], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Département d'oncologie médicale [Rennes], CRLCC Eugène Marquis (CRLCC), Service de génétique clinique [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de dermatologie [Avicenne], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique constitutionelle, This work is part of the national program 'Cartes d'Identité des Tumeurs' [10] funded and developed by the 'Ligue Nationale contre le Cancer'. We thank the Charente Maritime Cancer League, the Pyrenees Atlantiques Cancer League, the Canceropole Grand Sud-Ouest (ACI 2004 renewed 2007) and the Bergerac Lions Club for funding to ML. We thank the French Foundation for Medical Research (FRM) and the Bergonié Cancer Institute for funding to GB., BMC, Ed., Ligue Nationale Contre le Cancer (LNCC), Université Bordeaux Segalen - Bordeaux 2-Institut Bergonié - CRLCC Bordeaux-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Bergonié - CRLCC Bordeaux, and Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Avicenne
Subjects: MESH: Signal Transduction, Pathology, Receptor, ErbB-2, medicine.disease_cause, MESH: gamma-Glutamyltransferase, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, Surgical oncology, MESH: Hamartoma Syndrome, Multiple, MESH: Germ-Line Mutation, Cluster Analysis, skin and connective tissue diseases, Oligonucleotide Array Sequence Analysis, Medicine(all), Comparative Genomic Hybridization, Principal Component Analysis, 0303 health sciences, biology, Apocrine, gamma-Glutamyltransferase, Immunohistochemistry, 3. Good health, MESH: Receptor, erbB-2, 030220 oncology & carcinogenesis, Apocrine Breast Carcinoma, Breast carcinoma, Signal Transduction, Research Article, medicine.medical_specialty, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Class I Phosphatidylinositol 3-Kinases, Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, MESH: PTEN Phosphohydrolase, 03 medical and health sciences, MESH: Gene Expression Profiling, Germline mutation, Breast cancer, [SDV.CAN] Life Sciences [q-bio]/Cancer, medicine, Humans, PTEN, Germ-Line Mutation, 030304 developmental biology, MESH: Principal Component Analysis, MESH: Humans, Gene Expression Profiling, PTEN Phosphohydrolase, MESH: Immunohistochemistry, medicine.disease, MESH: Cluster Analysis, MESH: Comparative Genomic Hybridization, MESH: Phosphatidylinositol 3-Kinases, MESH: Oligonucleotide Array Sequence Analysis, Cancer research, biology.protein, Hamartoma Syndrome, Multiple, Carcinogenesis, MESH: Breast Neoplasms
Abstract: International audience; INTRODUCTION: Breast carcinoma is the main malignant tumor occurring in patients with Cowden disease, a cancer-prone syndrome caused by germline mutation of the tumor suppressor gene PTEN characterized by the occurrence throughout life of hyperplastic, hamartomatous and malignant growths affecting various organs. The absence of known histological features for breast cancer arising in a PTEN-mutant background prompted us to explore them for potential new markers. METHODS: We first performed a microarray study of three tumors from patients with Cowden disease in the context of a transcriptomic study of 74 familial breast cancers. A subsequent histological and immunohistochemical study including 12 additional cases of Cowden disease breast carcinomas was performed to confirm the microarray data. RESULTS: Unsupervised clustering of the 74 familial tumors followed the intrinsic gene classification of breast cancer except for a group of five tumors that included the three Cowden tumors. The gene expression profile of the Cowden tumors shows considerable overlap with that of a breast cancer subgroup known as molecular apocrine breast carcinoma, which is suspected to have increased androgenic signaling and shows frequent ERBB2 amplification in sporadic tumors. The histological and immunohistochemical study showed that several cases had apocrine histological features and expressed GGT1, which is a potential new marker for apocrine breast carcinoma. CONCLUSIONS: These data suggest that activation of the ERBB2-PI3K-AKT pathway by loss of PTEN at early stages of tumorigenesis promotes the formation of breast tumors with apocrine features.
Published: 2010

31. Homogenization of cartilage tumors to extract total RNA to microarray and sequencing analysis using Precellys bead-beating technology

Author: Mira Ayadi, Lucile Armenoult, Guillaume Banneau, and Esmeralda Carvalho
Subjects: medicine.anatomical_structure, Microarray, Chemistry, Cartilage, Total rna, Biophysics, medicine, General Biochemistry, Genetics and Molecular Biology, Biotechnology, Homogenization (biology)
Published: 2012

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31 results on '"Guillaume Banneau"'

1. Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

2. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

3. Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

4. Homogenization of cartilage tumors to extract total RNA to microarray and sequencing analysis using Precellys bead-beating technology

5. Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET

6. Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia

7. The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

8. Evidence of mosaicism in SPAST variant carriers in four French families

9. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

10. Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease

11. RNF170-related hereditary spastic paraplegia: confirmation by a novel mutation

12. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

13. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

14. Intérêt d’un panel de gènes de paraparésies spastiques héréditaires

15. Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS

16. Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

17. Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

18. An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

19. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

20. Paraplegie spastiche ereditarie

21. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

22. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

23. Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review

24. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

25. Comprehensive analysis of PTEN status in breast carcinomas

26. SPG11 : caractéristiques cliniques et histoire naturelle

27. An array CGH based genomic instability index (G2I) is predictive of clinical outcome in breast cancer and reveals a subset of tumors without lymph node involvement but with poor prognosis

28. Comprehensive analysis of PTEN status in breast carcinomas

29. Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations

30. Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

31. Homogenization of cartilage tumors to extract total RNA to microarray and sequencing analysis using Precellys bead-beating technology

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31 results on '"Guillaume Banneau"'

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