Moers, Arpad von

[["dc.bibliographiccitation.firstpage","476"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Annals of Neurology"],["dc.bibliographiccitation.lastpage","485"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wang, D."],["dc.contributor.author","Korenke, C. G."],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Ho, Y. Y."],["dc.contributor.author","Pascual, J. M."],["dc.contributor.author","Kuang, K."],["dc.contributor.author","Yang, H."],["dc.contributor.author","Ma, L."],["dc.contributor.author","Kranz-Eble, P."],["dc.contributor.author","Fischbarg, J."],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","De Vivo, D. C."],["dc.date.accessioned","2018-11-07T08:33:30Z"],["dc.date.available","2018-11-07T08:33:30Z"],["dc.date.issued","2001"],["dc.description.abstract","Glut-l deficiency syndrome was first described in 1991 as a sporadic clinical condition, later shown to be the result of haploinsufficiency. We now report a family with Glut-l deficiency syndrome affecting 5 members over 3 generations. The syndrome behaves as an autosomal dominant condition. Affected family members manifested mild to severe seizures, developmental delay, ataxia, hypoglycorrhachia, and decreased erythrocyte 3-O-methyl-D-glucose uptake. Seizure frequency and severity were aggravated by fasting, and responded to a carbohydrate load. Glut-1 immunoreactivity in erythrocyte membranes was normal. A heterozygous R126H missense mutation was identified in the 3 patients available for testing, 2 brothers (Generation 3) and their mother (Generation 2). The sister and her father were clinically and genotypically normal. In vitro mutagenesis studies in Xenopus laevis oocytes demonstrated significant decreases in the transport of 3-O-methyl-D-glucose and dehydroascorbic acid. Xenopus oocyte membranes expressed high amounts of the R126H mutant Glut-1. Kinetic analysis indicated that replacement of arginine-126 by histidine in the mutant Glut-l resulted in a lower V-max. These studies demonstrate the pathogenicity of the R126H missense mutation and transmission of Glut-1 deficiency syndrome as an autosomal dominant trait."],["dc.identifier.doi","10.1002/ana.1222"],["dc.identifier.isi","000171402200009"],["dc.identifier.pmid","11603379"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17590"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","0364-5134"],["dc.title","Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","215"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","218"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Blattner, R."],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Leegwater, PAJ"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","van der Knaap, M. S."],["dc.contributor.author","Kohler, W."],["dc.date.accessioned","2018-11-07T10:37:26Z"],["dc.date.available","2018-11-07T10:37:26Z"],["dc.date.issued","2003"],["dc.description.abstract","Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) was recently localized on chromosome 22q(tel) and 26 different mutations of the gene MLC1 have been found. We report three siblings of non-consanguineous parents who presented with characteristic features of MLC, but did not have MLC1 mutations. Methods: Clinical, laboratory and neuro-imaging findings of the siblings are described and similar patients with MLC are reviewed. Results: All three siblings suffered from ataxia, progressive severe tetraparesis, dysarthria, dysphagia and epilepsy. Generalized dystonia occurred in one patient. Mental deterioration progressed more slowly than motor deterioration. The youngest male was the most severely affected and died at the age of 23 years. The two older females are now 34 and 35 years old. Our patients are among the oldest described with this clinical entity. No mutation of the MLC1 gene was found in our siblings and linkage with the MLC1 locus was excluded. Conclusions: The genetic findings in our patients suggest at least a second gene locus for MLC."],["dc.identifier.isi","000185453800009"],["dc.identifier.pmid","12973664"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/45566"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Clinical and genetic heterogeneity in megalencephalic leukoencephalopathy with subcortical cysts (MLC)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","45"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","49"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Rostasy, Kevin"],["dc.contributor.author","Kolb, R."],["dc.contributor.author","Pohl, Daniela"],["dc.contributor.author","Mueller, H."],["dc.contributor.author","Fels, C."],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Bergmann, M."],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Pekrun, Arnulf"],["dc.contributor.author","Schulz-Schaeffer, Walter J."],["dc.date.accessioned","2018-11-07T10:51:32Z"],["dc.date.available","2018-11-07T10:51:32Z"],["dc.date.issued","2004"],["dc.description.abstract","Hemophagocytic lymphohistiocytosis is a rare and fatal disorder of early infancy, which affects predominantly the mononuclear phagocyte system and is characterized by the presence of fever, hepatosplenomegaly and cytopenia. Neurological symptoms can be extremely variable, ranging from irritability, and convulsions to focal neurological signs. They often develop during disease progression, but can also be the leading initial symptoms. Early diagnosis is mandatory, because new treatments, including bone marrow transplantation, appear to be promising. Here we present the clinical, neuroradiological and histopathological findings from two children with progressive CNS disease as the main clinical manifestation of hemophagocytic lymphohistiocytosis. Both children died and diagnosis was only obtained in retrospect after careful review of the histopathological material."],["dc.identifier.doi","10.1055/s-2004-815791"],["dc.identifier.isi","000220263800008"],["dc.identifier.pmid","15002052"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/48914"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","CNS disease as the main manifestation of hemophagocytic lymphohistiocytosis in two children"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","941"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Epilepsia"],["dc.bibliographiccitation.lastpage","945"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","von Moers, A."],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wang, D."],["dc.contributor.author","Korenke, C. G."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","De Vivo, D. C."],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:12:47Z"],["dc.date.available","2018-11-07T10:12:47Z"],["dc.date.issued","2002"],["dc.description.abstract","Purpose: Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels. Methods: We performed pre- and postprandial EEG recordings in two unrelated children with Glut-1 DS with developmental delay and seizures predominantly in the morning before breakfast. Results: Extensive epileptiform discharges observed in the fasting state were improved markedly by food intake, as documented in EEG recordings 1 and 2 h after a meal. The ratio of cerebrospinal fluid glucose to blood glucose was decreased in both children. Glut-1 deficiency was confirmed by biochemical and molecular genetic investigations. Conclusions: Pre- and postprandial EEG recordings offer a simple screening test for Glut-1 DS."],["dc.identifier.doi","10.1046/j.1528-1157.2002.50401.x"],["dc.identifier.isi","000177383900024"],["dc.identifier.pmid","12181017"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40304"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Publishing Inc"],["dc.relation.issn","0013-9580"],["dc.title","EEG features of Glut-1 deficiency syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]