Rosewich, Hendrik

[["dc.bibliographiccitation.firstpage","869"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","876"],["dc.bibliographiccitation.volume","39"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Krause, Cindy"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:44:32Z"],["dc.date.available","2017-09-07T11:44:32Z"],["dc.date.issued","2016"],["dc.description.abstract","Defects in the biogenesis of peroxisomes cause a clinically and genetically heterogeneous group of neurometabolic disorders, the Zellweger syndrome spectrum (ZSS). Diagnosis predominantly is based on characteristic clinical symptoms, a typical biochemical profile, as well as on identification of the molecular defect in any of the 12 known human PEX genes. The diagnostic workup can be hindered if the typical clinical symptoms are missing and predicting the clinical course of a given patient is almost unfeasible. As a safe and noninvasive method to analyze specific chemical compounds in localized brain regions, in vivo proton magnetic resonance spectroscopy (MRS) can provide an indication in this diagnostic process and may help predict the clinical course. However, to date, there are very few reports on this topic. In this study, we performed localized in vivo proton MRS without confounding contributions from T1- and T2-relaxation effects at 2 Tesla in a comparably large group of seven ZSS patients. Patients' absolute metabolite concentrations in cortical gray matter, white matter, and basal ganglia were assessed and compared with age-matched control values. Our results confirm and extend knowledge about in vivo MRS findings in ZSS patients. Besides affirmation of nonspecific reduction of N-acetylaspartate + N-acetylaspartylglutamate (tNAA) in combination with lipid accumulation as a diagnostic hint for this disease group, the amount of tNAA loss seems to reflect disease burden and may prove to be of prognostic value regarding the clinical course of an already diagnosed patient."],["dc.identifier.doi","10.1007/s10545-016-9965-6"],["dc.identifier.gro","3141599"],["dc.identifier.isi","000386383500011"],["dc.identifier.pmid","27488561"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/10"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.eissn","1573-2665"],["dc.relation.issn","0141-8955"],["dc.title","Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","764"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","The Lancet Neurology"],["dc.bibliographiccitation.lastpage","773"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Maschke, Ulrike"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Frommolt, Peter"],["dc.contributor.author","Zim, Birgit"],["dc.contributor.author","Ebinger, Friedrich"],["dc.contributor.author","Siemes, Hartmut"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:48:26Z"],["dc.date.available","2017-09-07T11:48:26Z"],["dc.date.issued","2012"],["dc.description.abstract","Background Alternating hemiplegia of childhood (AHC) is a rare neurological disorder characterised by early-onset episodes of hemiplegia, dystonia, various paroxysmal symptoms, and developmental impairment. Almost all cases of AHC are sporadic but AHC concordance in monozygotic twins and dominant transmission in a family with a milder phenotype have been reported. Thus, we aimed to identify de-novo mutations associated with this disease. Methods We recruited patients with clinically characterised AHC from paediatric neurology departments in Germany and with the aid of a parental support group between Sept, 2004, and May 18, 2012. We used whole-exome sequencing of three proband-parent trios to identify a disease-associated gene and then tested whether mutations in the gene were also present in the remaining patients and their healthy parents. We analysed genotypes and characterised their associations with the phenotypic spectrum of the disease. Findings We studied 15 female and nine male patients with AHC who were aged 8-35 years. ATP1A3 emerged as the disease-associated gene in AHC. Whole-exome sequencing showed three heterozygous de-novo missense mutations. Sequencing of the 21 remaining affected individuals identified disease-associated mutations in ATP1A3 in all patients, including six de-novo missense mutations and one de-novo splice-site mutation. Because ATP1A3 is also the gene associated with rapid-onset dystonia-parkinsonism (DYT12, OMIM 128235) we compared the genotypes and phenotypes of patients with AHC in our cohort with those of patients with rapid-onset dystonia-parkinsonism reported in the scientific literature. We noted overlapping clinical features, such as abrupt onset of dystonic episodes often triggered by emotional stress, a rostrocaudal (face to arm to leg) gradient of involvement, and signs of brainstem dysfunction, as well as clearly differentiating clinical characteristics, such as episodic hemiplegia and quadriplegia. Interpretation Mutation analysis of the ATP1A3 gene in patients who met clinical criteria for AHC allows for definite genetic diagnosis and sound genetic counselling. AHC and rapid-onset dystonia-parkinsonism are allelic diseases related to mutations in ATP1A3 and form a phenotypical continuum of a dystonic movement disorder."],["dc.identifier.doi","10.1016/S1474-4422(12)70182-5"],["dc.identifier.gro","3142472"],["dc.identifier.isi","000307911700011"],["dc.identifier.pmid","22850527"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11305"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8662"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: Eva Luise and Horst Kohler Foundation for Humans with Rare Diseases"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Science Inc"],["dc.relation.eissn","1474-4465"],["dc.relation.issn","1474-4422"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","945"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","955"],["dc.bibliographiccitation.volume","82"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Schlotawa, Lars"],["dc.contributor.author","Baethmann, Martina"],["dc.contributor.author","Carrilho, Ines"],["dc.contributor.author","Fiori, Simona"],["dc.contributor.author","Lourenco, Charles Marques"],["dc.contributor.author","Sawyer, Sarah"],["dc.contributor.author","Steinfeld, Robert"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2017-09-07T11:46:24Z"],["dc.date.available","2017-09-07T11:46:24Z"],["dc.date.issued","2014"],["dc.description.abstract","Objective:We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders and recognition of a potential genotype-phenotype correlation.Methods:We identified 16 new patients with alternating hemiplegia of childhood (AHC) and 3 new patients with rapid-onset dystonia-parkinsonism (RDP) and included these as well as the clinical and molecular findings of all previously reported 164 patients with mutation-positive AHC and RDP in our analyses.Results:Major clinical characteristics shared in common by AHC and RDP comprise a strikingly asymmetric, predominantly dystonic movement disorder with rostrocaudal gradient of involvement and physical, emotional, or chemical stressors as triggers. The clinical courses include an early-onset polyphasic for AHC, a later-onset mono- or biphasic for RDP, as well as intermediate forms. Meta-analysis of the 8 novel and 38 published ATP1A3 mutations shows that the ones affecting transmembrane and functional domains tend to be associated with AHC as the more severe phenotype. The majority of mutations are located in exons 8, 14, 17, and 18.Conclusion:AHC and RDP constitute clinical prototypes in a continuous phenotypic spectrum of ATP1A3-related disorders. Intermediate phenotypes combining criteria of both conditions are increasingly recognized. Efficient stepwise mutation analysis of the ATP1A3 gene may prioritize those exons where current state of knowledge indicates mutational clusters."],["dc.identifier.doi","10.1212/WNL.0000000000000212"],["dc.identifier.gro","3142165"],["dc.identifier.isi","000336262500012"],["dc.identifier.pmid","24523486"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/5255"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.eissn","1526-632X"],["dc.relation.issn","0028-3878"],["dc.title","The expanding clinical and genetic spectrum of ATP1A3-related disorders"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","861"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","863"],["dc.bibliographiccitation.volume","83"],["dc.contributor.author","Rosewich, H."],["dc.contributor.author","Weise, D."],["dc.contributor.author","Ohlenbusch, A."],["dc.contributor.author","Gärtner, J."],["dc.contributor.author","Brockmann, K."],["dc.date.accessioned","2021-06-01T10:48:10Z"],["dc.date.available","2021-06-01T10:48:10Z"],["dc.date.issued","2014"],["dc.identifier.doi","10.1212/WNL.0000000000000735"],["dc.identifier.gro","3142067"],["dc.identifier.isi","000341096100020"],["dc.identifier.pmid","25056583"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/85849"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.eissn","1526-632X"],["dc.relation.issn","0028-3878"],["dc.title","Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","133"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Journal of the Neurological Sciences"],["dc.bibliographiccitation.lastpage","135"],["dc.bibliographiccitation.volume","341"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Baethmann, Martina"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2017-09-07T11:46:12Z"],["dc.date.available","2017-09-07T11:46:12Z"],["dc.date.issued","2014"],["dc.description.abstract","Mutations in the ATP1A3 gene are associated with rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (ARC) as well as RDP/AHC intermediate presentations. Phenotypic diversity is being recognized. In order to identify ATP1A3-related phenotypes not meeting the classical criteria for RDP or AHC we lowered the threshold for mutation analysis in clinical presentations resembling AHC or RDP. A novel heterozygous ATP1A3 missense mutation c.2600G > A (p.Gly867Asp, G867D) was detected in a 15-year-old girl. Her clinical phenotype is partially consistent with an intermediate presentation between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism and comprises additional yet unreported features. With onset at 41/2 years of age recurrent paroxysmal flaccid hemiplegia alternating in laterality was triggered by watching television or playing computer games. Occlusion of both eyes reliably stopped the plegic attacks with the patient remaining awake. Our observation further widens the phenotypic spectrum associated with ATP1A3 mutations. (C) 2014 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.jns.2014.03.034"],["dc.identifier.gro","3142105"],["dc.identifier.isi","000337262200025"],["dc.identifier.pmid","24713507"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/4600"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Science Bv"],["dc.relation.eissn","1878-5883"],["dc.relation.issn","0022-510X"],["dc.title","A novel ATP1A3 mutation with unique clinical presentation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","105012"],["dc.bibliographiccitation.journal","Neurobiology of Disease"],["dc.bibliographiccitation.volume","143"],["dc.contributor.author","Lazarov, Elinor"],["dc.contributor.author","Hillebrand, Merle"],["dc.contributor.author","Schröder, Simone"],["dc.contributor.author","Ternka, Katharina"],["dc.contributor.author","Hofhuis, Julia"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Barrantes-Freer, Alonso"],["dc.contributor.author","Pardo, Luis A."],["dc.contributor.author","Fruergaard, Marlene U."],["dc.contributor.author","Nissen, Poul"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Rosewich, Hendrik"],["dc.date.accessioned","2021-04-14T08:23:22Z"],["dc.date.available","2021-04-14T08:23:22Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1016/j.nbd.2020.105012"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/17488"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/80889"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.notes.intern","Merged from goescholar"],["dc.relation.issn","0969-9961"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]