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1. Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS study

Author

Leila Ait Aissa, Mendinatou Agbétou, Ousmane Cisse, Dismand Houinato, Pierre-Marie Preux, Meriem Tazir, Jaime Luna, Marie Penoty, Philippe Couratier, Athanase Millogo, Imen Kacem, Marie Raymondeau-Moustafa, Agnon Ayelola Koffi Balogou, Riadh Gouider, M Belo, Bello Hamidou, Benoît Marin, Damelan Kombate, Mouhamadou Diagana, Anna Modji Basse, Franclo Henning, Lamia Ali Pacha, Thierry Agba, Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie, Hopital Mustapha, CHU Mustapha, Le centre hospitalier universitaire (CHU) Mustapha Pacha [Alger], Hopital de Razi - Razi Hospital [Tunis], Stellenbosch University, Service de Neurologie, CHU Campus Université de Lomé, Service de Neurologie, CHU Campus Université de Lomé-Service de Neurologie, CHU Campus Université de Lomé, Université de Parakou (UP), University of Abomey Calavi (UAC), Centre Hospitalier Universitaire Souro Sanou [Bobo-Dioulasso] (CHUSS), Université de Lomé [Togo], Service de Neurologie [CHU Limoges], CHU Limoges, Unité Fonctionnelle de Recherche Clinique et de Biostatistique (UFRCB), Service de l'Information Médicale et de l'Évaluation [CHU Limoges] (SIME), Laboratoire de Biostatistique et d'Informatique Médicale, Université de Limoges (UNILIM), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
Adult, medicine.medical_specialty, amyotrophic lateral sclerosis, Neurology, clinical features, Subgroup analysis, Disease, Africa, Southern, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Africa, Northern, Internal medicine, Humans, Medicine, Age of Onset, Sex Distribution, Amyotrophic lateral sclerosis, Aged, Proportional Hazards Models, business.industry, Proportional hazards model, Middle Aged, medicine.disease, riluzole, 3. Good health, Riluzole, Survival Rate, Africa, Western, Psychiatry and Mental health, Neuroprotective Agents, Africa, Surgery, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), prognosis, business, 030217 neurology & neurosurgery, Median survival, Cohort study, medicine.drug
Abstract

ObjectiveWe describe and compare the sociodemographic and clinical features, treatments, and prognoses and survival times of patients with amyotrophic lateral sclerosis (ALS) in Africa.MethodologyWe conducted a multicentre, hospital-based cohort study in Africa. Patients with ALS diagnosed in the neurology departments of participating hospitals from 2005 to 2017 were included. Subgroup analysis was performed by subcontinent. Survival analyses were conducted using the Cox proportional hazards model.ResultsNine centres from eight African countries participated. A total of 185 patients with ALS were included: 114 from Northern Africa, 41 from Western Africa and 30 from Southern Africa. A male predominance (male to female ratio 2.9) was evident. The median age at onset was 53.0 years (IQR 44.5–64.0 years). The onset was bulbar in 22.7%. Only 47 patients (26.3%) received riluzole, mainly in Northern and Western Africa. The median survival from the time of diagnosis was 14.0 months (95% CI 10.7 to 17.2 months). The median survival was longer in Northern Africa (19.0 months, 95% CI 10.8 to 27.2 months) than in Western (4.0 months, 95% CI 0.8 to 7.1 months) and Southern (11.0 months, 95% CI 5.6 to 16.4 months) Africa (Breslow test, pConclusionMore African patients with ALS were male and younger and exhibited a lower proportion of bulbar onset compared with patients with ALS from Western nations. Survival was consistent with that in Western registers but far shorter than what would be expected for young patients with ALS. The research improves our understanding of the disease in Africa.

Published
2019
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2. Some new proposals for the classification of inherited myopathies

Author

Gwendal Le Masson, Philippe Couratier, Jean-Michel Vallat, Stéphane Mathis, Idoia Lacoste, Meriem Tazir, Laurent Magy, Guilhem Solé, Fanny Duval, Cyril Goizet, Karima Ghorab, Service de Neurologie, Hopital Mustapha, Centre de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, CHU Bordeaux [Bordeaux], Service de Neurologie [CHU Limoges], CHU Limoges, Physiopathologie des Reseaux Neuronaux Medullaires, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Laboratoire de Génie des Procédés et Matériaux - EA 4038 (LGPM), CentraleSupélec, Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre de référence national neuropathies périphériques rares [CHU Limoges], and CHU Mustapha

Subjects
0301 basic medicine, medicine.medical_specialty, business.industry, Inheritance (genetic algorithm), Causative gene, Muscular Disorders, Disease, 3. Good health, 03 medical and health sciences, Hereditary Ataxias, 030104 developmental biology, 0302 clinical medicine, Neurology, Muscular Diseases, medicine, Humans, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Psychiatry, business, Clinical phenotype, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS
Abstract

International audience; Dear Editor, In a recent publication in the Journal of the Neurological Sciences, we highlighted the current difficulties in classifying the various forms of inherited myopathies [1]. These suggestions were based on our initial proposals for Charcot-Marie-Tooth disease (CMT) and other neurogenetic disorders) [2]. Recently, we conducted an internet survey to evaluate the interest of the scientific community: 65% of the people consulted considered that changes are needed and that our proposals constitute an improvement over the historical classification of CMT [3, 4]. There have also been recent attempts to solve such problems in other neurogenetic disorders such as hereditary ataxias [5]. We are aware that any new classification of neuromuscular disorders will need to be discussed in the neurological and genetic communities, but we have proposed simplifying the classification of inherited muscular disorders by using the same three successive steps: clinical phenotype, mode of inheritance, then the name of the causative gene (Fig. 1A) [1]....

Published
2018
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3. Phenotypic variability in giant axonal neuropathy

Author

Kathrin Huehne, Jean-Michel Vallat, Laurent Magy, S. Assami, D. Grid, Andoni Urtizberea, Tarik Hamadouche, Bernd Rautenstrauss, Meriem Tazir, Sonia Nouioua, Service de Neurologie, Hopital Mustapha, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Laboratoire de biologie moléculaire, Université M'Hamed Bougara Boumerdes (UMBB), Medical Genetics Center, Friedrich-Baur Institute, and Ludwig-Maximilians-Universität München (LMU)

Subjects
Male, Pathology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, DNA Mutational Analysis, Pyramidal Tracts, MESH: Pyramidal Tracts, medicine.disease_cause, Nerve Fibers, Myelinated, 0302 clinical medicine, MESH: Child, Neural Pathways, Missense mutation, MESH: Syndrome, Age of Onset, MESH: DNA Mutational Analysis, Child, Genetics (clinical), Giant axonal neuropathy, Genetics, 0303 health sciences, Mutation, Gigaxonin, MESH: Genetic Predisposition to Disease, Brain, Peripheral Nervous System Diseases, Syndrome, Phenotype, Pedigree, MESH: Nerve Fibers, Myelinated, MESH: Cerebellar Ataxia, 3. Good health, medicine.anatomical_structure, Neurology, Child, Preschool, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Peripheral Nervous System Diseases, MESH: Algeria, Adult, MESH: Axons, medicine.medical_specialty, MESH: Mutation, Adolescent, Cerebellar Ataxia, MESH: Pedigree, MESH: Age of Onset, Central nervous system, Nonsense mutation, Biology, MESH: Phenotype, MESH: Brain, 03 medical and health sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, Genetic Predisposition to Disease, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Gait Disorders, Neurologic, Gene, Gait Disorders, Neurologic, 030304 developmental biology, MESH: Adolescent, MESH: Bone Diseases, Developmental, Bone Diseases, Developmental, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Neural Pathways, MESH: Child, Preschool, MESH: Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Axons, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Algeria, Pediatrics, Perinatology and Child Health, Neurology (clinical), MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
Abstract

International audience; Giant axonal neuropathy (GAN), a severe childhood disorder affecting both the peripheral nerves and the central nervous system, is due to mutations in the GAN gene encoding gigaxonin, a protein implicated in the cytoskeletal functions and dynamics. In the majority of the GAN series reported to date, patients had the classical clinical phenotype characterized by a severe axonal neuropathy with kinky hair and early onset CNS involvement including cerebellar and pyramidal signs. We present 12 patients (6 families) with GAN mutations and different clinical phenotypes. Four families were harbouring an identical homozygous nonsense mutation but with different severe clinical phenotypes, one patient had a novel missense homozygous mutation with a peculiar moderate phenotype and prominent skeletal deformations. The last family (4 patients) harbouring a homozygous missense mutation had the mildest form of the disease. In contrast with recent reported series of patients with typical GAN clinical features, the present series demonstrate obvious clinical heterogeneity.

Published
2009
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4. Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

Author

Anne-Marie Ouvrard-Hernandez, Suzanne Lesage, Ebba Lohmann, Nassima Hecham, Alexandra Durr, Hiroyuki Tomiyama, Alexis Brice, Soraya Belarbi, Anne-Louise Leutenegger, Christel Condroyer, Pierre Pollak, Meriem Tazir, Nobutaka Hattori, Jonathan Carr, A. Nazli Basak, Etienne Patin, Tarik Hamadouche, Anat Bar-Shira, Caroline Pirkevi, Traki Benhassine, Avi Orr-Urtreger, Lluis Quintana-Murci, Cécile Cazeneuve, Nir Giladi, Soraya Bardien, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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), Prévention et Thérapie Moléculaires des Maladies Infectieuses Humaines, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Movement Disorders Unit, Parkinson Center, The Sackler Faculty of Medicine, Tel Aviv University (TAU), Genetic Institute, Tel-Aviv Sourasky Medical Center, Service de Neurologie, Hopital Mustapha, Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Division of Neurology, Stellenbosch University, Laboratoire de Biologie Cellulaire et Moléculaire, Université de Bab Ezzouar, Department of Neurology, Juntendo University School of Medicine, Neurodegeneration Research Laboratory, Boǧaziçi üniversitesi = Boğaziçi University [Istanbul], Laboratoire de biologie moléculaire, Université M'Hamed Bougara Boumerdes (UMBB), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Epidémiologie et Physiopathologie des Virus Oncogènes, ANR-05-NEUR-0019,LRRK2 in PD,Pathologie moléculaire et modèles murins du gène LRRK2, impliqué dans la maladie de Parkinson(2005), Lesage, Suzanne, Neurosciences, neurologie et psychiatrie - Pathologie moléculaire et modèles murins du gène LRRK2, impliqué dans la maladie de Parkinson - - LRRK2 in PD2005 - ANR-05-NEUR-0019 - NEURO - VALID, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Tel Aviv University [Tel Aviv], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Boğaziçi University [Istanbul]

Subjects
MESH: Mutation, Mutation/genetics, Protein-Serine-Threonine Kinases/genetics, Ethnic Groups/genetics, Haplotypes/genetics, Population, Ethnic group, Protein Serine-Threonine Kinases, Biology, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, MESH: Protein-Serine-Threonine Kinases, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Ethnicity, Genetics, Humans, Amino Acid Substitution/genetics, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Parkinson Disease/genetics, Evolutionary dynamics, education, Molecular Biology, Gene, Genetics (clinical), MESH: Evolution, Molecular, 030304 developmental biology, 0303 health sciences, education.field_of_study, MESH: Humans, Haplotype, Parkinson Disease, General Medicine, MESH: Haplotypes, LRRK2, MESH: Amino Acid Substitution, Ashkenazi jews, ddc:616.8, 3. Good health, Amino Acid Substitution, Haplotypes, Mutation, Mutation (genetic algorithm), MESH: Ethnic Groups, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030217 neurology & neurosurgery, MESH: Parkinson Disease
Abstract

7 pages; International audience; Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at

Published
2010
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5. [Hereditary peripheral neuropathies]

Author

Vallat, Jean-Michel, Tazir, Meriem, Calvo, J., Funalot, Benoît, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Service de Neurologie, Hopital Mustapha, Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biomolécules Thérapies anti-tumorales ( EA4021 ), Université de Limoges ( UNILIM ) -Génomique, Environnement, Immunité, Santé, Thérapeutique ( GEIST FR CNRS 3503 ), and CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP)

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [ SDV.BBM.BM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2009

6. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Author

Abdelmadjid Hamri, Paulo Alegria, Mathieu Anheim, Alexander Lossos, Masatoyo Nishizawa, Kiyoshi Iwabuchi, Cyril Goizet, José Leal Loureiro, Christel Depienne, Paula Coutinho, Florence Pasquier, Anne Kjersti Erichsen, Amir Boukhris, Vítor Tedim Cruz, Sylvie Forlani, Chokri Mhiri, Jeremy Truchetto, Filippo M. Santorelli, Alexandra Durr, Paola S. Denora, Christine Tranchant, Isabelle Le Ber, José Vale, Imed Feki, Hamid Azzedine, Giovanni Stevanin, Soreya Belarbi, Israela Lerer, G. Uyanik, Vardiela Meiner, Guillaume Garrigues, Alberto Luis Rosa, Alexis Brice, Chantal M. E. Tallaksen, Meriem Tazir, Masayoshi Tada, Victoria Gonzalez-Martinez, Didier Hannequin, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), 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), Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Service de Neurologie, Hopital Mustapha, Department of Neurology, Hadassah Hebrew University Medical Center [Jerusalem], Laboratorio de Biologia Cellular y Molecular, Fundacion Allende and Sanatorio Allende, Department of Human Genetics, Hadassah-Hebrew University Medical Centre, Hôpital Benbadis, Serviçio Neurologia, Hospital De Egas Moniz, Departamento de Neurologia, Hospital S. Sebastiao, Niigata University, Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Department of Genetics, University Hospital, Neurology Department, CHU Strasbourg, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Neurological Clinic of Yokohama, Yokohama, Department of Histopathology, Ullevål University Hospital, Département de neurologie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Ulleval University Hospital, Département de Neurologie, CHU Strasbourg-Hopital Civil, Service de Neurologie [Strasbourg], Unit of Molecular Medicine, IRCCS, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Département de neurologie [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), and Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)

Subjects
Male, Genetic Linkage, DNA Mutational Analysis, Neurological disorder, MESH: Base Sequence, Corpus callosum, Gastroenterology, Corpus Callosum, MESH: Magnetic Resonance Imaging, MESH: Genotype, 0302 clinical medicine, MESH: Mental Retardation, MESH: Child, MESH: Motor Neuron Disease, MESH: Proteins, Cognitive decline, Age of Onset, MESH: DNA Mutational Analysis, Child, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, Cognitive disorder, Brain, Magnetic Resonance Imaging, 3. Good health, Pedigree, medicine.anatomical_structure, Phenotype, Child, Preschool, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Paraplegia, Psychology, Adult, medicine.medical_specialty, MESH: Mutation, Adolescent, Genotype, MESH: Pedigree, MESH: Age of Onset, Molecular Sequence Data, Genes, Recessive, MESH: Phenotype, MESH: Corpus Callosum, Lower motor neuron, 03 medical and health sciences, MESH: Brain, Internal medicine, Intellectual Disability, medicine, Humans, Motor Neuron Disease, MESH: Genes, Recessive, 030304 developmental biology, MESH: Adolescent, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Spastic Paraplegia, Hereditary, MESH: Child, Preschool, Proteins, MESH: Adult, medicine.disease, MESH: Male, MESH: Cognition Disorders, Mutation, Physical therapy, Neurology (clinical), Age of onset, Cognition Disorders, MESH: Female, MESH: Linkage (Genetics), 030217 neurology & neurosurgery, Executive dysfunction
Abstract

Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity associated, in complicated forms, with additional neurological signs. We have analysed a large series of index patients (n = 76) with this condition, either from families with an autosomal recessive inheritance (n = 43) or isolated patients (n = 33), for mutations in the recently identified SPG11 gene. We found 22 truncating mutations, including the first four splice-site mutations, segregating in seven isolated cases and 13 families. Nineteen mutations were novel. Two recurrent mutations were found in Portuguese and North-African patients indicating founder effects in these populations. The mutation frequency varied according to the phenotype, from 41%, in HSP patients presenting with a thin corpus callosum (TCC) visualized by MRI, to 4.5%, in patients with mental impairment without a TCC. Disease onset occurred during the first to the third decade mainly by problems with gait and/or mental retardation. After a mean disease duration of 14.9 +/- 6.6 years, the phenotype of 38 SPG11 patients was severe with 53% of patients wheelchair bound or bedridden. In addition to mental retardation, 80% of the patients showed cognitive decline with executive dysfunction. Interestingly, the phenotype also frequently included lower motor neuron degeneration (81%) with wasting (53%). Slight ocular cerebellar signs were also noted in patients with long disease durations. In addition to a TCC (95%), brain MRI revealed white matter alterations (69%) and cortical atrophy (81%), which worsened with disease duration. In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype.

Published
2008
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7. [Hereditary neuropathies]

Author

Vallat, Jean-Michel, Calvo, J., Ghorab, K., Tazir, Meriem, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Service de Neurologie, Hopital Mustapha, and Sturtz, Franck

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2008

8. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Author

Hamid Azzedine, Alessandro Filla, Merle Ruberg, Paula Coutinho, Filippo M. Santorelli, Enrico Bertini, Vítor Tedim Cruz, Elodie Martin, N. Elleuch, D. Grid, Jacques Chomilier, Alessandra Tessa, Naima Bouslam, Perrine Charles, Alexandra Durr, Bertrand Fontaine, Eric LeGuern, Paola S. Denora, Christian Confavreux, Giovanni Stevanin, Anne Marie Ouvrard-Hernandez, Alexis Brice, Meriem Tazir, José Leal Loureiro, Alexander Lossos, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), 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), Unit of Molecular Medicine, IRCCS, UnIGENe, Universidade do Porto, Institut de minéralogie et de physique des milieux condensés (IMPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-IPG PARIS-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Department of Neurology, Hadassah Hebrew University Medical Center [Jerusalem], Departamento de Neurologia, Hospital S. Sebastiao, Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Hopital Neurologique, Ministère de la santé, Service de Neurologie A-Hopital Neurologique Pierre Wertheimer, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Généthon, Service de Neurologie, Hopital Mustapha, Affections de la Myeline et des Canaux Ioniques Musculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neurological Sciences, Università degli studi di Napoli Federico II, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Université Mohammed V, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital neurologique, Hospices Civils de Lyon (HCL), Neurologie Expérimentale et Thérapeutique, IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Mustapha, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Department of Computer Science and Engineering, New York University [New York] (NYU), NYU System (NYU)-NYU System (NYU), Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidade do Porto = University of Porto, Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Institut de Physique du Globe de Paris (IPG Paris)-Centre National de la Recherche Scientifique (CNRS), University of Naples Federico II = Università degli studi di Napoli Federico II, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-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), Stevanin, G, Santorelli, Fm, Azzedine, H, Coutinho, P, Chomilier, J, Denora, P, Martin, E, OUVRARD HERNANDEZ, Am, Tessa, A, Bouslam, N, Lossos, A, Charles, P, Loureiro, Jl, Elleuch, N, Confavreux, C, Cruz, Vt, Ruberg, M, Leguern, E, Grid, D, Tazir, M, Fontaine, B, Filla, Alessandro, Bertini, E, Durr, A, Brice, A., Université Mohammed V de Rabat [Agdal] (UM5), 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)

Subjects
Genetic Linkage, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, MESH: Rats, Sprague-Dawley, MESH: Base Sequence, Corpus callosum, Corpus Callosum, Rats, Sprague-Dawley, MESH: Genotype, 0302 clinical medicine, MESH: Child, Chlorocebus aethiops, Spastic, MESH: Proteins, MESH: Animals, Age of Onset, MESH: DNA Mutational Analysis, Child, ComputingMilieux_MISCELLANEOUS, Genetics, Cerebral Cortex, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, Pedigree, MESH: COS Cells, COS Cells, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Paraplegia, Adult, MESH: Mutation, Adolescent, Genotype, MESH: Rats, MESH: Pedigree, MESH: Age of Onset, Molecular Sequence Data, Locus (genetics), Biology, MESH: Corpus Callosum, Frameshift mutation, 03 medical and health sciences, Chromosome 15, Genetic linkage, medicine, Animals, Humans, 030304 developmental biology, MESH: Adolescent, Chromosomes, Human, Pair 15, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Spastic Paraplegia, Hereditary, Proteins, MESH: Adult, medicine.disease, MESH: Cercopithecus aethiops, MESH: Cerebral Cortex, Rats, nervous system diseases, MESH: Lod Score, Corticospinal tract, Mutation, Lod Score, MESH: Linkage (Genetics), 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 15
Abstract

Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP.

Published
2007
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9. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Author

Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Denora, Paola S., Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad Hernandez, De Michele, G., Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Van Der Knapp, M. S., Marcella, Neri, Hassan, Tonekaboni, Melone, Mariarosa A. B., Alessandra, Tessa, Teresa Dotti, M., Michela, Tosetti, Pauri, Flavia, Antonio, Federico, Casali, Carlo, Cruz, Vitor T., Loureiro, Jose L., Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Alessandro, Filla, Alexis, Brice, Santorelli, Filippo M., Casali, C., Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-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), Unit of Molecular Medicine, IRCCS, Mendel Institute, Department of Neurological Sciences, University of Naples Federico II = Università degli studi di Napoli Federico II, Pediatric Neurology and Neuromuscular Diseases Unit, Università degli studi di Genova = University of Genoa (UniGe), Service de Neurologie, Hopital Mustapha, Department of Neurosciences, Università degli Studi di Roma Tor Vergata [Roma], Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Department of Neuroscience, Catholic University, Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Besta Neurological Institute, Department of Pediatrics and Neuropediatrics, Georg-August-University = Georg-August-Universität Göttingen, Institute of Neurological Sciences, Department of Child Neurology, VU University Medical Center [Amsterdam], Medical Genetics, Università degli Studi di Ferrara = University of Ferrara (UniFE), Stella Maris, Department of Neurology and ORL, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Departamento de Neurologia, Hospital S. Sebastiao, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Stevanin, G, Montagna, G, Azzedine, H, Valente, Em, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, Am, DE MICHELE, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, VAN DER KNAPP, M, Neri, M, Tonekaboni, H, Melone, Mariarosa Anna Beatrice, Tessa, A, Dotti, Mt, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, Vt, Loureiro, Jl, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A, Santorelli, Fm, Pediatric surgery, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Universita degli studi di Genova, Georg-August-University [Göttingen], Università degli Studi di Ferrara (UniFE), University of Naples Federico II, and Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]

Subjects
Male, Candidate gene, Genetic Linkage, Corpus Callosum, Consanguinity, Autosomal recessive hereditary spastic, Genetic heterogeneity, 0302 clinical medicine, MESH: Child, Spastic Paraplegia, Autosomal recessive hereditary spastic paraplegia, Linkage, SPG11, Thin corpus callosum, Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 15, Female, Humans, Infant, Lod Score, Pedigree, Phenotype, Spastic Paraplegia, Hereditary, Genes, Recessive, Genetic Heterogeneity, Genetics, Genetics (clinical), Cellular and Molecular Neuroscience, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, MESH: Genetic Heterogeneity, MESH: Infant, autosomal recessive hereditary spastic paraplegia, genetic heterogeneity, linkage, spg11, thin corpus callosum, Hereditary, Settore MED/26 - Neurologia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human, Hereditary spastic paraplegia, MESH: Pedigree, Locus (genetics), Biology, MESH: Phenotype, MESH: Corpus Callosum, Chromosomes, 03 medical and health sciences, Gene mapping, Genetic linkage, medicine, Recessive, Preschool, MESH: Genes, Recessive, 030304 developmental biology, MESH: Adolescent, MESH: Consanguinity, Autosome, MESH: Humans, Thin corpus callosum, SPG11, Linkage, Haplotype, MESH: Child, Preschool, Pair 15, medicine.disease, MESH: Male, Genes, MESH: Lod Score, MESH: Linkage (Genetics), MESH: Female, 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 15
Abstract

We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy.

Published
2006
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10. Fasting During the First Year of Transplantation: Is it Safe?

Author

Ouziala M, Ouziala S, Bellaoui A, and Drif M

Abstract

During the month of Ramadan 1417H we studied 14 patients all transplanted with live related kidneys. All the patients were transplanted between one and seven months before the month of Ramadan. All the patients were on azathioprine and prednisolone and the mean plasma creatinine level was 95 +/- 15 micromol/L. They all completed fasting the month of Ramadan successfully. Medical evaluation showed that there was no clinical adverse effect. There was no significant change in serum values of creatinine, calcium, protein, sodium, potassium, chloride, HC03, or liver function tests. There was, however, a significant elevation of total plasma proteins, urea, uric acid, hemoglobin, triglycerides, cholesterol, urinary sodium and potassium, concentration (p=< 0.05). Our study shows that fasting in Ramadan during the first year of transplantation is possible, nevertheless further studies with large number of patients are necessary to confirm this specially in patients receiving cyclosporine.

Published
1998

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