- [Cellular lipid dynamics]Nicole Baumann
Laboratoire de neurochimie INSERM U 495, Hopital de la Salpetriere, 75651 Paris
J Soc Biol 197:205-10. 2003..Thus these microdomains are involved in many aspects related to normal and pathological cellular dynamics...
- Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?Nicole Baumann
Laboratory of Neurochemistry, INSERM Unit 495, Salpetriere Hospital, Paris, France
J Physiol Paris 96:301-6. 2002..Motor forms involved the major adult ASA mutation P426L in a homozygote form in contrast to psycho-cognitive forms which involved as a compound heterozygote a specific I179S mutation...
- Biology of oligodendrocyte and myelin in the mammalian central nervous systemN Baumann
Institut National de la Santé et de la Recherche Médicale U 495, Biology of Neuron Glia Interactions, Salpetriere Hospital, Paris, France
Physiol Rev 81:871-927. 2001..There is also a remarkable plasticity of the oligodendrocyte lineage, even in the adult with a certain potentiality for myelin repair after experimental demyelination or human diseases...
- Adult-onset leukodystrophiesN Baumann
INSERM Unit 495, Biologie des Interactions Neurones Glie, Salpetriere Hospital, Paris, France
J Neurol 247:751-9. 2000..Other articles deal with their differential diagnosis of leukoencephalopathies and with the diagnostic strategy...
- Contribution of transplantations to the understanding of the role of the PLP geneF Lachapelle
U 134 INSERM, Hopital de la Salpetriere, Paris, France
Neurochem Res 19:1083-90. 1994..Results are discussed with regards to the recent molecular biological finding on the role of the DM20/PLP gene...
- Neuronal expression of mutations affecting primarily glia in the mouse: studies in the dysmyelinated and convulsive mutant quakingN Baumann
Laboratoire de Neurochimie, INSERM U 134, CNRS UA 623, , Paris, France
J Physiol (Paris) 82:271-8. 1987..7. The possible involvement of other neurotransmitter systems in the convulsions of these mutants, together with the nature of the relationship between neuronal abnormalities and dysmyelination phenomenon, are discussed...
- Leukoencephalopathies associated with inborn errors of metabolism in adultsF Sedel
Federation of Nervous System Diseases, Hôpital de la Salpêtrière and Université Pierre et Marie Curie Paris VI, Assistance Publique Hopitaux de Paris, Paris, France
J Inherit Metab Dis 31:295-307. 2008..These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs...
- Cerebellar soluble lectin and its glycoprotein ligands in the developing brain of control and dysmyelinating mutant miceW X Li
Unite de Neurobiologie Cellulaire, Moleculaire et Clinique, INSERM U, 134, Hopital de la Salpetriere, Paris, France
Neurochem Int 22:125-33. 1993..These results are discussed in view of developmental roles attributed to CSL and its glycoproteins ligands in cell adhesion mechanism during brain ontogenesis and especially myelination...
- Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adultsF Sedel
Federation of Nervous System Diseases, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651, Paris Cedex 13, France
J Inherit Metab Dis 30:631-41. 2007..Here we present an overview of IEMs potentially revealed by psychiatric problems in adolescence or adulthood and provide a diagnostic strategy to guide metabolic investigations...
- Clinical aspects of Niemann-Pick type C disease in the adultJ C Turpin
INSERM Unit 134 Cellular, Molecular and Clinical Neurobiology, , Paris, France
Dev Neurosci 13:304-6. 1991..Foam cells or sea-blue histiocytes are a general feature of the disease. Although the primary defect is unknown, diagnosis must be confirmed by the defect in cholesterol esterification from exogenous cholesterol...
- Remyelination by transplanted oligodendrocytes of a demyelinated lesion in the spinal cord of the adult shiverer mouseO Gout
INSERM U 134, Hopital de la Salpetriere, Paris, France
Neurosci Lett 87:195-9. 1988..This result showed the capability of grafted oligodendrocytes or precursor cells to migrate to a demyelinated lesion and to remyelinate naked axons in an adult host, even in presence of host spontaneous remyelination...
- [Presenting psychiatric and cognitive disorders in adult neurolipidoses]J C Turpin
Laboratoire de Neurochimie, INSERM U 495, Hopital de la Salpetriere, Paris
Rev Neurol (Paris) 159:637-47. 2003..This review discusses also other metabolic diseases which may present as isolated or predominant cognitive and psychiatric manifestations...
- Fas system up-regulation in experimental autoimmune encephalomyelitisJ Ouallet
Institut National de la Sante et de la Recherche Medicale INSERM, Unit 495, Hopital de la Salpetriere, Paris, France
J Neurol Sci 170:96-104. 1999....
- The adult form of Niemann-Pick disease type CMathieu Sévin
Assistance Publique Hopitaux de Paris, Fédération des Maladies du Système Nerveux, Paris, France
Brain 130:120-33. 2007....
- Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophyAfshin Yaghootfam
Institute of Physiological Chemistry, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany
Neurochem Res 29:933-42. 2004..The presence of the R288H, N350S, and R496H substitution on one allele in the absence of the polyadenylation site polymorphism shows that this allele has probably arisen by recombination between the nucleotides of codon 350 and 496...
- Characterization of the ceramide moieties of sphingoglycolipids from mouse brain by ESI-MS/MS: identification of ceramides containing sphingadienineBenoit Colsch
Institut National de la Santé et de la Recherche Médicale U495, Laboratoire de Neurochimie, Hopital de la Salpetriere, 75651 Paris 13, France
J Lipid Res 45:281-6. 2004..Sphingadienine is present in galactosylceramide and sulfatides. Free ceramides contain the three types of bases. Thus, there could be two separate pools of free ceramides (d18:1, d18:2 and d20:1, d18:1) as precursors of complex SGL...
- [Degenerative neurological diseases of the central nervous system related to genetic neurolipidoses]Nicole Baumann
Laboratoire de Neurochimie, INSERM U 495, Hopital de la Salpetriere, 47 Boulevard de l Hôpital 75651 Paris, France
Bull Acad Natl Med 187:141-51; discussion 152. 2003..From our clinical and biological experience, we would like to suggest a decision tree...
- Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophiesYanli Cui
Departement de Chimie, Ecole Normale Superieure, UMR 8642, CNRS ENS UPMC, 24 rue Lhomond, 75231 Paris Cedex 05, France
Glycoconj J 25:147-55. 2008..The key step was achieved by selective sulfation of the desired hydroxyl group on the sugar residue of the galactosylceramide using the stannylene methodology to give a 3'-sulfated beta-galactosyl C-17 ceramide...
- Sulfogalactosylceramides in motor and psycho-cognitive adult metachromatic leukodystrophy: relations between clinical, biochemical analysis and molecular aspectsBenoit Colsch
University Pierre and Marie Curie UMR CNRS 7613, 4 place Jussieu, 75252 Paris Cedex 05, France
Biochim Biophys Acta 1780:434-40. 2008..We show here that there were no relations with the level of ASA and with the mass spectrometric study of the sulfatide isoforms which were identical in the 2 clinical forms...
- Generation and characterization of the binding epitope of a novel monoclonal antibody to sulfatide (sulfogalactosylceramide) OL-2: applications of antigen immunodetections in brain tissues and urinary samplesBenoit Colsch
Université Pierre et Marie Curie UMR CNRS 7613, 4 place Jussieu, 75252 Paris Cedex 05, France
J Neuroimmunol 193:52-8. 2008..The antibody was successfully used to detect urinary sulfatides in metachromatic leukodystrophy and distinguish them from closely migrating other lipids from patients with other neurological diseases...
- Gaucher disease associated with parkinsonism: four further case reportsJudit Varkonyi
3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
Am J Med Genet A 116:348-51. 2003..The concurrence of these two phenotypes, both in this series of patients and in others in the literature, suggests a shared pathway, modifier, or other genetic etiology...