Brockmann, Knut

[["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","655"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Annals of Clinical and Translational Neurology"],["dc.bibliographiccitation.lastpage","668"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Pringsheim, Milka"],["dc.contributor.author","Mitter, Diana"],["dc.contributor.author","Schröder, Simone"],["dc.contributor.author","Warthemann, Rita"],["dc.contributor.author","Plümacher, Kim"],["dc.contributor.author","Kluger, Gerhard"],["dc.contributor.author","Baethmann, Martina"],["dc.contributor.author","Bast, Thomas"],["dc.contributor.author","Braun, Sarah"],["dc.contributor.author","Büttel, Hans‐Martin"],["dc.contributor.author","Conover, Elizabeth"],["dc.contributor.author","Courage, Carolina"],["dc.contributor.author","Datta, Alexandre N."],["dc.contributor.author","Eger, Angelika"],["dc.contributor.author","Grebe, Theresa A."],["dc.contributor.author","Hasse‐Wittmer, Annette"],["dc.contributor.author","Heruth, Marion"],["dc.contributor.author","Höft, Karen"],["dc.contributor.author","Kaindl, Angela M."],["dc.contributor.author","Karch, Stephanie"],["dc.contributor.author","Kautzky, Torsten"],["dc.contributor.author","Korenke, Georg C."],["dc.contributor.author","Kruse, Bernd"],["dc.contributor.author","Lutz, Richard E."],["dc.contributor.author","Omran, Heymut"],["dc.contributor.author","Patzer, Steffi"],["dc.contributor.author","Philippi, Heike"],["dc.contributor.author","Ramsey, Keri"],["dc.contributor.author","Rating, Tina"],["dc.contributor.author","Rieß, Angelika"],["dc.contributor.author","Schimmel, Mareike"],["dc.contributor.author","Westman, Rachel"],["dc.contributor.author","Zech, Frank‐Martin"],["dc.contributor.author","Zirn, Birgit"],["dc.contributor.author","Ulmke, Pauline A."],["dc.contributor.author","Sokpor, Godwin"],["dc.contributor.author","Tuoc, Tran"],["dc.contributor.author","Leha, Andreas"],["dc.contributor.author","Staudt, Martin"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2019-11-25T10:20:06Z"],["dc.date.accessioned","2021-10-27T13:21:31Z"],["dc.date.available","2019-11-25T10:20:06Z"],["dc.date.available","2021-10-27T13:21:31Z"],["dc.date.issued","2019"],["dc.description.abstract","Objective: FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. The study aimed at assessing the scope of structural cerebral anomalies revealed by neuroimaging to delineate the genotype and neuroimaging phenotype associations. Methods: We compiled 34 patients with a heterozygous (likely) pathogenic FOXG1 variant. Qualitative assessment of cerebral anomalies was performed by standardized re-analysis of all 34 MRI data sets. Statistical analysis of genetic, clinical and neuroimaging data were performed. We quantified clinical and neuroimaging phenotypes using severity scores. Telencephalic phenotypes of adult Foxg1+/- mice were examined using immunohistological stainings followed by quantitative evaluation of structural anomalies. Results: Characteristic neuroimaging features included corpus callosum anomalies (82%), thickening of the fornix (74%), simplified gyral pattern (56%), enlargement of inner CSF spaces (44%), hypoplasia of basal ganglia (38%), and hypoplasia of frontal lobes (29%). We observed a marked, filiform thinning of the rostrum as recurrent highly typical pattern of corpus callosum anomaly in combination with distinct thickening of the fornix as a characteristic feature. Thickening of the fornices was not reported previously in FOXG1 syndrome. Simplified gyral pattern occurred significantly more frequently in patients with early truncating variants. Higher clinical severity scores were significantly associated with higher neuroimaging severity scores. Modeling of Foxg1 heterozygosity in mouse brain recapitulated the associated abnormal cerebral morphology phenotypes, including the striking enlargement of the fornix. Interpretation: Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia of the fornices is highly characteristic for FOXG1 syndrome."],["dc.description.sponsorship","Open-Access-Publikationsfonds 2019"],["dc.identifier.doi","10.1002/acn3.735"],["dc.identifier.eissn","2328-9503"],["dc.identifier.issn","2328-9503"],["dc.identifier.pmid","31019990"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16705"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/92029"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.eissn","2328-9503"],["dc.relation.issn","2328-9503"],["dc.relation.issn","2328-9503"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","CC BY-NC-ND 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc-nd/4.0"],["dc.subject.ddc","610"],["dc.title","Structural brain anomalies in patients with FOXG 1 syndrome and in Foxg1+/− mice"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]