Gärtner, Jutta

[["dc.bibliographiccitation.firstpage","673"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Acta Neuropathologica"],["dc.bibliographiccitation.lastpage","674"],["dc.bibliographiccitation.volume","138"],["dc.contributor.author","Stumpf, Sina K."],["dc.contributor.author","Berghoff, Stefan A."],["dc.contributor.author","Trevisiol, Andrea"],["dc.contributor.author","Spieth, Lena"],["dc.contributor.author","Düking, Tim"],["dc.contributor.author","Schneider, Lennart V."],["dc.contributor.author","Schlaphoff, Lennart"],["dc.contributor.author","Dreha-Kulaczewski, Steffi"],["dc.contributor.author","Bley, Annette"],["dc.contributor.author","Burfeind, Dinah"],["dc.contributor.author","Kusch, Kathrin"],["dc.contributor.author","Mitkovski, Miso"],["dc.contributor.author","Ruhwedel, Torben"],["dc.contributor.author","Guder, Philipp"],["dc.contributor.author","Röhse, Heiko"],["dc.contributor.author","Denecke, Jonas"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Möbius, Wiebke"],["dc.contributor.author","Nave, Klaus-Armin"],["dc.contributor.author","Saher, Gesine"],["dc.date.accessioned","2019-11-04T14:10:22Z"],["dc.date.accessioned","2021-10-27T13:21:24Z"],["dc.date.available","2019-11-04T14:10:22Z"],["dc.date.available","2021-10-27T13:21:24Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1007/s00401-019-02064-2"],["dc.identifier.pmid","31482207"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16592"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/92019"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.eissn","1432-0533"],["dc.relation.iserratumof","/handle/2/62293"],["dc.relation.issn","1432-0533"],["dc.relation.issn","0001-6322"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","erratum_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e0194873"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","PLoS One"],["dc.bibliographiccitation.volume","13"],["dc.contributor.author","Wuerfel, Eva"],["dc.contributor.author","Weddige, Almuth"],["dc.contributor.author","Hagmayer, York"],["dc.contributor.author","Jacob, Rebecca"],["dc.contributor.author","Wedekind, Lisa"],["dc.contributor.author","Stark, Wiebke"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2019-07-09T11:45:26Z"],["dc.date.available","2019-07-09T11:45:26Z"],["dc.date.issued","2018"],["dc.description.abstract","BACKGROUND: A number of studies have investigated cognitive impairment in paediatric patients with multiple sclerosis (MS) but deficits regarding executive functions have not been comprehensively assessed up to now. This study was meant to explore cognitive impairment in German paediatric MS patients with a focus on deficits in executive functions and relate these to clinical disease parameters. METHODS AND FINDINGS: Forty paediatric MS patients, which presented at the German centre for MS in childhood and adolescence, were assessed for cognitive deficits applying a very comprehensive battery of cognitive tests including the Wechsler Intelligence scale and subtests of the D-KEFS for executive functions. The performance of MS patients was compared with a group of age and sex matched healthy controls using between-subjects ANOVAs. Paediatric MS patients performed worse in tests assessing verbal comprehension and fluency, processing speed, memory, calculation skills and other executive functions. Arranged by the cognitive domain, group differences were most pronounced regarding verbal comprehension and fluency for the WISC subtests Comprehension (p = 0.000), Vocabulary (p = 0.003) and Information (p = 0.005); regarding processing speed for the written SDMT (p = 0.001) and the WISC subtest Coding (p = 0.005); regarding memory for the VLMT training (p = 0.007) and the BASIC MLT pattern learning training (p = 0.009); regarding executive functions including working memory for the WISC subtest Arithmetics (p = 0.002), the D-KEFS Design Fluency (p = 0.003) and the Corsi block tapping backward task (p = 0.003). Fluid reasoning was largely intact. Relations of cognitive performance and clinical parameters were assessed in MS patients. Disease duration was associated with a reduced performance in tests belonging to the domains verbal comprehension and fluency (WISC Vocabulary: p = 0.034, WISC Information: p = 0.015) and fluid reasoning (WISC Picture Completion: p = 0.003) as well as the WISC Working Memory Index (p = 0.047). Patients with a disease onset between 11 and 14 years performed better in fluid reasoning (WISC matrix reasoning: p = 0.024) than patients with a disease onset at an age above 14. The number of relapses negatively influenced the visual spatial memory performance (BASIC MLT pattern learning training: p = 0.009). CONCLUSIONS: The distribution of cognitive deficits in a representative group German of paediatric MS patients was similar to the pattern known from other European and North-American cohorts. Paediatric MS patients do have cognitive deficits in executive functions and key qualities necessary for successful school performance. Disease duration, age of onset and the number of relapses influence cognitive performance. Cognitive screenings should be implemented on a regular basis for paediatric MS patients, enabling early intervention."],["dc.identifier.doi","10.1371/journal.pone.0194873"],["dc.identifier.pmid","29566099"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/15205"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59228"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Cognitive deficits including executive functioning in relation to clinical parameters in paediatric MS patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","758"],["dc.bibliographiccitation.issue","70"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","754"],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Combes, P."],["dc.contributor.author","Diekmann, S."],["dc.contributor.author","Bertini, E."],["dc.contributor.author","Brockmann, K."],["dc.contributor.author","Burlina, A. P."],["dc.contributor.author","Kaiser, J."],["dc.contributor.author","Ohlenbusch, A."],["dc.contributor.author","Plecko, B."],["dc.contributor.author","Rodriguez, D."],["dc.contributor.author","Boespflug-Tanguy, Odile"],["dc.contributor.author","Gärtner, J."],["dc.date.accessioned","2019-07-10T08:13:34Z"],["dc.date.available","2019-07-10T08:13:34Z"],["dc.date.issued","2008"],["dc.description.abstract","Background: Pelizaeus-Merzbacher-like disease (PMLD) is a genetically heterogeneous disorder within the group of hypomyelinating leukoencephalopathies. Mutations of the gap junction protein 12 (GJA12) gene are known to cause one autosomal recessive PMLD form. Few patients with GJA12 mutated PMLD have been reported, and to date, the frequency as well as the genotypic and phenotypic spectrum of GJA12 related PMLD is unclear. Methods: We report mutation analysis of the GJA12 gene in a clinical and radiologic wellcharacterized multiethnic cohort of 193 patients with PMLD from 182 families. Results and Conclusions: Only 16 patients (8.3%) from 14 families (7.7%) carry GJA12 mutations including five families where we detected only one mutated allele. Among those, we identified 11 novel alterations. Thus, GJA12 mutations are a rather rare cause for Pelizaeus- Merzbacher-like disease. The clinical phenotype of patients with a GJA12 mutation was evaluated and is overall comparable to the clinical features seen in mild forms of proteolipid protein 1 (PLP1) related disorder but with better cognition and earlier signs of axonal degeneration."],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6318"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/61279"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.subject.ddc","610"],["dc.title","GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1740"],["dc.bibliographiccitation.issue","75"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","1744"],["dc.contributor.author","Huppke, P."],["dc.contributor.author","Blüthner, Rosa M."],["dc.contributor.author","Bauer, O."],["dc.contributor.author","Stark, W,"],["dc.contributor.author","Reinhardt, K."],["dc.contributor.author","Huppke, B."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2019-07-10T08:13:35Z"],["dc.date.available","2019-07-10T08:13:35Z"],["dc.date.issued","2010"],["dc.description.abstract","Objective: Neuromyelitis optica (NMO) is currently considered a severe relapsing CNS demyelinating disorder that is associated with aquaporin-4 immunoglobulin G (NMO-IgG) while in earlier reports of NMO in childhood it has been described as a benign and monophasic disorder. This study was performed to analyze the prevalence and the clinical course of NMO in a European pediatric cohort of patients with demyelinating CNS disorders. Methods: A cohort study was performed evaluating 118 pediatric patients presenting at the Center for Multiple Sclerosis in Childhood and Adolescents, Go¨ttingen, Germany, with demyelinating CNS disorders between 2000 and 2009. In all patients, NMO-IgG status was determined. Results: The majority of patients (94%) were diagnosed with remitting recurrent multiple sclerosis. Six patients fulfilled the clinical criteria for NMO but only 1 was seropositive for NMO-IgG. This patient had a severe relapsing course in contrast to the seronegative patients who showed a mild and in the majority of cases monophasic course. Conclusions: The diagnostic criteria clearly distinguished the patients with NMO from patients with other demyelinating CNS disorders. In the European pediatric population, NMO is very rare and in the majority of patients not associated with NMO-IgG. These seronegative cases have a benign and predominantly monophasic course and therefore do not need the immunosuppressant therapy that is recommended for NMO in the recent literature."],["dc.identifier.fs","576516"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6319"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/61280"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.subject.ddc","610"],["dc.title","Neuromyelitis optica and NMO-IgG in European pediatric patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Monatsschrift Kinderheilkunde"],["dc.contributor.author","Stark, W."],["dc.contributor.author","Gärtner, J."],["dc.date.accessioned","2019-07-09T11:50:42Z"],["dc.date.available","2019-07-09T11:50:42Z"],["dc.date.issued","2019"],["dc.description.abstract","Die Diagnose einer multiplen Sklerose (MS) wird im Kindes- und Jugendalter anhand der McDonald-Kriterien gestellt. In diese gehen die klinische Präsentation mit schubhaften neurologischen Ausfällen, Anzahl und Verteilung entzündlich-demyelinisierender Läsionen im Zentralnervensystem (ZNS), die mithilfe der Magnetresonanztomographie (MRT) dargestellt werden, sowie Liquorparameter ein. Zur Behandlung eines akuten Schubs hat sich hochdosiertes Methylprednisolon etabliert. Mit einer früh beginnenden verlaufsmodifizierenden Therapie kann die Prognose der MS verbessert werden. Bei Kindern und Jugendlichen mit milder/moderater MS-Verlaufsform wird eine Therapie mit Interferon-β oder Glatirameracetat, für (hoch-)aktive Verlaufsformen eine Therapie mit Fingolimod oder Natalizumab empfohlen. Durch die in den letzten 10 Jahren rasante Entwicklung neuer hochwirksamer monoklonaler Antikörper und oraler Medikamente für adulte MS-Patienten haben sich die Therapieoptionen auch für die MS im Kindes- und Jugendalter deutlich erweitert. Die Therapieentscheidung sollte auf dem klinischen und radiologischen Phänotyp basieren. Für das Therapieansprechen und -Monitoring sind regelmäßige klinische und MRT-Verlaufskontrollen sowie die Kenntnis der Nebenwirkungen von entscheidender Bedeutung."],["dc.identifier.doi","10.1007/s00112-019-0655-y"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/15980"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59811"],["dc.language.iso","de"],["dc.notes.intern","Merged from goescholar"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Aktuelle Therapieempfehlungen bei multipler Sklerose im Kindes- und Jugendalter"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","48"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","JIMD Reports"],["dc.bibliographiccitation.lastpage","52"],["dc.bibliographiccitation.volume","49"],["dc.contributor.author","Schlotawa, Lars"],["dc.contributor.author","Dierks, Thomas"],["dc.contributor.author","Christoph, Sophie"],["dc.contributor.author","Cloppenburg, Eva"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Korenke, G. Christoph"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2020-07-22T10:03:22Z"],["dc.date.accessioned","2021-10-27T13:22:16Z"],["dc.date.available","2020-07-22T10:03:22Z"],["dc.date.available","2021-10-27T13:22:16Z"],["dc.date.issued","2019"],["dc.description.abstract","Multiple sulfatase deficiency (MSD) is an ultra‐rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the posttranslational activation of newly synthesized sulfatases. Complete absence of FGE function results in the most severe clinical form of MSD with neonatal onset and rapid deterioration. We report on a preterm infant presenting with hydrops fetalis, lung hypoplasia, and dysmorphism as major clinical signs. The patient died after 6 days from an intraventricular hemorrhage followed by multi‐organ failure. MSD was caused by a homozygous SUMF1 stop mutation (c.191C>A, p.Ser64Ter). FGE protein and sulfatase activities were absent in patient fibroblasts. Hydrops fetalis is a rare symptom of LSDs and should be considered in the differential diagnosis in combination with dysmorphism. The diagnostic set up should include measurements of glycosaminoglycan excretion and lysosomal enzyme activities, among them at least two sulfatases, and molecular confirmation."],["dc.description.sponsorship","Open-Access-Publikationsfonds 2020"],["dc.identifier.doi","10.1002/jmd2.12074"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17452"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/92080"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.publisher","John Wiley \\u0026 Sons, Inc."],["dc.relation.eissn","2192-8312"],["dc.relation.issn","2192-8312"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.subject.ddc","610"],["dc.title","Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","354"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","363"],["dc.bibliographiccitation.volume","85"],["dc.contributor.author","Steinfeld, Robert"],["dc.contributor.author","Grapp, Marcel"],["dc.contributor.author","Kraetzner, Ralph"],["dc.contributor.author","Dreha-Kulaczewski, Steffi"],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Wevers, Ron"],["dc.contributor.author","Grosso, Salvatore"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2019-07-09T11:52:56Z"],["dc.date.available","2019-07-09T11:52:56Z"],["dc.date.issued","2009"],["dc.description.abstract","Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of folate transport and metabolism are presently known, all of which cause systemic folate deficiency.We identified an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRa). Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF). Brain magnetic resonance imaging (MRI) demonstrated profound hypomyelination, and MR-based in vivo metabolite analysis indicated a combined depletion of white-matter choline and inositol. Retroviral transfection of patient cells with either FRa or FRb could rescue folate binding. Furthermore, CSF folate concentrations, as well as glial choline and inositol depletion, were restored by folinic acid therapy and preceded clinical improvements. Our studies not only characterize a previously unknown and treatable disorder of early childhood, but also provide new insights into the folate metabolic pathways involved in postnatal myelination and brain development."],["dc.identifier.doi","10.1016/j.ajhg.2009.08.005."],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6177"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/60304"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.subject.ddc","610"],["dc.title","Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]