Dreha-Kulaczewski, Steffi F.

[["dc.bibliographiccitation.firstpage","833"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Child's Nervous System"],["dc.bibliographiccitation.lastpage","841"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Bock, Hans C."],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Alaid, Awad"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Ludwig, Hans C."],["dc.date.accessioned","2020-12-10T14:10:20Z"],["dc.date.available","2020-12-10T14:10:20Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1007/s00381-019-04119-x"],["dc.identifier.eissn","1433-0350"],["dc.identifier.issn","0256-7040"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/70732"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Upward movement of cerebrospinal fluid in obstructive hydrocephalus—revision of an old concept"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","74"],["dc.bibliographiccitation.journal","BMC Neurology"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Kettwig, Matthias"],["dc.contributor.author","Elpeleg, Orly"],["dc.contributor.author","Wegener, Eike"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Huppke, Peter"],["dc.date.accessioned","2017-09-07T11:44:54Z"],["dc.date.available","2017-09-07T11:44:54Z"],["dc.date.issued","2016"],["dc.description.abstract","Background: Mutations in proteins involved in the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway are associated with autosomal recessive forms of intellectual disability. Recently mutations in the PGAP1 gene that codes for PGAP1, a protein localized in the endoplasmic reticulum responsible for the first step of the remodeling of glycosylphosphatidylinositol was linked to a disorder characterized by psychomotor retardation and facial dysmorphism. Whole exome sequencing (WES) was performed in siblings with severely delayed myelination and psychomotor retardation. Mutations in PGAP1 were confirmed by Sanger sequencing and RNA analysis. A literature search was performed to describe the emerging phenotype of PGAP1 related disease. Case presentation: WES resulted in the detection of two novel compound heterozygous mutations in PGAP1, one base pair insertion leading to a frame shift c.334_335InsA (p.A112fs) and a splice site mutation leading to exon skipping c.G1173C (p.L391L). A symptom not described in PGAP1 related disorder before but prominent in the siblings were recurrent apnea especially during sleep that persisted at least until age 2 years. Sequential cerebral MRI at age one and two year(s) respectively revealed frontal accentuated brain atrophy and significantly delayed myelination. Conclusion: We report siblings with two novel mutations in PGAP1. Other that the common symptoms related to PGAP1 mutations including non-progressive psychomotor retardation, neonatal feeding problems, microcephaly and brain atrophy these patients displayed severely delayed myelination and recurrent apneas thereby widing the clinical spectrum associated with such mutations."],["dc.identifier.doi","10.1186/s12883-016-0602-7"],["dc.identifier.gro","3141684"],["dc.identifier.isi","000376577000003"],["dc.identifier.pmid","27206732"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13279"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8872"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1471-2377"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review"],["dc.type","review"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["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.firstpage","893"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Neuroradiology"],["dc.bibliographiccitation.lastpage","898"],["dc.bibliographiccitation.volume","48"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2017-09-07T11:49:54Z"],["dc.date.available","2017-09-07T11:49:54Z"],["dc.date.issued","2006"],["dc.description.abstract","Introduction Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia. Diagnostic MRI findings include thinning of the corpus callosum and non-progressive white matter (WM) alterations. Methods To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral WM and cortical grey matter (GM) in a patient with HSP-TCC at 20 and 25 years of age. The second investigation included diffusion tensor imaging (DTI). Results While MRS of the GM was normal, affected WM was characterized by major metabolic alterations such as reduced concentrations of N-acetylaspartate and N-acetylaspartyl-glutamate, creatine and phosphocreatine, and choline-containing compounds as well as elevated levels of myo-inositol. These abnormalities showed progression over a period of 5 years. DTI revealed increased mean diffusivity as well as reduced fractional anisotropy in periventricular WM. The metabolic and structural findings are consistent with progressive neuroaxonal loss in the WM accompanied by astrocytic proliferation-histopathological changes known to occur in HSP-TCC. Conclusion Our results are in agreement with the hypothesis that the primary pathological process in HSP-TCC affects the axon, possibly due to impaired axonal trafficking."],["dc.identifier.doi","10.1007/s00234-006-0148-2"],["dc.identifier.gro","3143582"],["dc.identifier.isi","000242365500005"],["dc.identifier.pmid","17013586"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1111"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.issn","0028-3940"],["dc.title","Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Neuroradiology"],["dc.bibliographiccitation.volume","51"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Gaertner, J."],["dc.contributor.author","Helms, G."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Hofer, Sabine"],["dc.contributor.author","Frahm, Jens"],["dc.date.accessioned","2018-11-07T11:23:58Z"],["dc.date.available","2018-11-07T11:23:58Z"],["dc.date.issued","2009"],["dc.identifier.doi","10.1007/s00234-009-0582-z"],["dc.identifier.isi","000269859800010"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/56301"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","0028-3940"],["dc.title","Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis (vol 51, pg 113, 2009)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","234"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","238"],["dc.bibliographiccitation.volume","40"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Groeschel, Sonja"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Reinhardt, Konstanze"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Dechent, Peter"],["dc.date.accessioned","2017-09-07T11:46:49Z"],["dc.date.available","2017-09-07T11:46:49Z"],["dc.date.issued","2009"],["dc.description.abstract","Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion tensor imaging (DTI) were carried out 5 years later. In both boys, MRI incidentally revealed numerous intracerebral cysts strictly confined to one hemisphere. Localization, size, shape, and signal isointensity to cerebrospinal fluid indicated unilateral marked widening of VRS. In one patient, follow-up investigation after 5 years showed unchanged dilation of VRS on MRI, but mild facial hemihypertrophy, ipsilateral to the widened VRS. DTI indicated displacement rather than disruption of fiber tracks adjacent to the dilated VRS. Unilateral widening of VRS may be detected fortuitously on neuroimaging already in early childhood."],["dc.identifier.doi","10.1055/s-0029-1246158"],["dc.identifier.gro","3143051"],["dc.identifier.isi","000275698300006"],["dc.identifier.pmid","20221960"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/522"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Unilateral Dilation of Virchow-Robin Spaces in Early Childhood"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","233"],["dc.bibliographiccitation.issue","04"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","241"],["dc.bibliographiccitation.volume","52"],["dc.contributor.author","Ludwig, Hans C."],["dc.contributor.author","Bock, Hans C."],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Schiller, Stina"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Dreha-Kulaczewski, Steffi"],["dc.date.accessioned","2021-08-12T07:45:08Z"],["dc.date.available","2021-08-12T07:45:08Z"],["dc.date.issued","2021"],["dc.description.abstract","Abstract New experimental and clinical findings question the historic view of hydrocephalus and its 100-year-old classification. In particular, real-time magnetic resonance imaging (MRI) evaluation of cerebrospinal fluid (CSF) flow and detailed insights into brain water regulation on the molecular scale indicate the existence of at least three main mechanisms that determine the dynamics of neurofluids: (1) inspiration is a major driving force; (2) adequate filling of brain ventricles by balanced CSF upsurge is sensed by cilia; and (3) the perivascular glial network connects the ependymal surface to the pericapillary Virchow–Robin spaces. Hitherto, these aspects have not been considered a common physiologic framework, improving knowledge and therapy for severe disorders of normal-pressure and posthemorrhagic hydrocephalus, spontaneous intracranial hypotension, and spaceflight disease."],["dc.description.abstract","Abstract New experimental and clinical findings question the historic view of hydrocephalus and its 100-year-old classification. In particular, real-time magnetic resonance imaging (MRI) evaluation of cerebrospinal fluid (CSF) flow and detailed insights into brain water regulation on the molecular scale indicate the existence of at least three main mechanisms that determine the dynamics of neurofluids: (1) inspiration is a major driving force; (2) adequate filling of brain ventricles by balanced CSF upsurge is sensed by cilia; and (3) the perivascular glial network connects the ependymal surface to the pericapillary Virchow–Robin spaces. Hitherto, these aspects have not been considered a common physiologic framework, improving knowledge and therapy for severe disorders of normal-pressure and posthemorrhagic hydrocephalus, spontaneous intracranial hypotension, and spaceflight disease."],["dc.identifier.doi","10.1055/s-0041-1731981"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/88375"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-448"],["dc.relation.eissn","1439-1899"],["dc.relation.issn","0174-304X"],["dc.title","Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","444"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Pediatric Research"],["dc.bibliographiccitation.lastpage","449"],["dc.bibliographiccitation.volume","63"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Finsterbusch, Jurgen"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Hanefeld, Folker A."],["dc.date.accessioned","2017-09-07T11:48:46Z"],["dc.date.available","2017-09-07T11:48:46Z"],["dc.date.issued","2008"],["dc.description.abstract","The neuropathology of vanishing white matter (VWM) disease is characterized by a loss of white matter (WM). Although recent histopathological studies suggest a primary glial dysfunction, the purpose of this work was to assess the extent of axonal involvement in VWM using long-term follow-up proton MR spectroscopy. White and gray matter of nine children with genetically proven VWM and late infancy/early childhood onset were investigated with short-echo time, single-voxel proton MR spectroscopy over up to 8 years starting as early as less than 2 years after the onset of symptoms (5 patients). Total N-acetyl-aspartate (-51% from normal control), creatine and phosphocreatine (-47%), and myo-inositol (-49%) were reduced in WM at early disease stages. Choline-containing compounds were less severely decreased (-31%). Follow-up investigations revealed progressive reduction of all metabolites in WM. In gray matter, no distinct changes were detected at early stages. Later total N-acetyl-aspartate decreased slightly (-22%). Assuming the metabolite alterations to primarily reflect changes in cellular composition, the observed pattern indicates early axonal involvement or loss as well as relatively enhanced turnover of myelin. These early stages are followed by a complete cellular loss in cerebral WM."],["dc.identifier.doi","10.1203/01.pdr.0000304934.90198.25"],["dc.identifier.gro","3143328"],["dc.identifier.isi","000254374300021"],["dc.identifier.pmid","18356755"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/830"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0031-3998"],["dc.title","Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","10"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Fluids and Barriers of the CNS"],["dc.bibliographiccitation.volume","16"],["dc.contributor.author","Aktas, Gökmen"],["dc.contributor.author","Kollmeier, Jost M."],["dc.contributor.author","Joseph, Arun A."],["dc.contributor.author","Merboldt, Klaus-Dietmar"],["dc.contributor.author","Ludwig, Hans-Christoph"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Dreha-Kulaczewski, Steffi"],["dc.date.accessioned","2019-07-09T11:50:48Z"],["dc.date.available","2019-07-09T11:50:48Z"],["dc.date.issued","2019"],["dc.description.abstract","Background Respiration-induced pressure changes represent a powerful driving force of CSF dynamics as previously demonstrated using flow-sensitive real-time magnetic resonance imaging (MRI). The purpose of the present study was to elucidate the sensitivity of CSF flow along the spinal canal to forced thoracic versus abdominal respiration. Methods Eighteen subjects without known illness were studied using real-time phase-contrast flow MRI at 3 T in the aqueduct and along the spinal canal at levels C3, Th1, Th8 and L3. Subjects performed a protocol of forced breathing comprising four cycles of 2.5 s inspiration and 2.5 s expiration. Results The quantitative results for spinal CSF flow rates and volumes confirm previous findings of an upward movement during forced inspiration and reversed downward flow during subsequent exhalation—for both breathing types. However, the effects were more pronounced for abdominal than for thoracic breathing, in particular at spinal levels Th8 and L3. In general, CSF net flow volumes were very similar for both breathing conditions pointing upwards in all locations. Conclusions Spinal CSF dynamics are sensitive to varying respiratory performances. The different CSF flow volumes in response to deep thoracic versus abdominal breathing reflect instantaneous adjustments of intrathoracic and intraabdominal pressure, respectively. Real-time MRI access to CSF flow in response to defined respiration patterns will be of clinical importance for patients with disturbed CSF circulation like hydrocephalus, pseudotumor cerebri and others."],["dc.identifier.doi","10.1186/s12987-019-0130-0"],["dc.identifier.pmid","30947716"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16002"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59832"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Spinal CSF flow in response to forced thoracic and abdominal respiration"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","113"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Neuroradiology"],["dc.bibliographiccitation.lastpage","121"],["dc.bibliographiccitation.volume","51"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Hofer, Sabine"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Frahm, Jens"],["dc.date.accessioned","2017-09-07T11:47:35Z"],["dc.date.available","2017-09-07T11:47:35Z"],["dc.date.issued","2009"],["dc.description.abstract","Proton magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) yield different parameters for characterizing the evolution of a demyelinating white matter disease. The purpose was to elucidate biochemical and microstructural changes in Balo's concentric sclerosis lesions and to correlate the findings with the clinical course. Localized short-echo time MRS and DTI were performed over 6 years in a left occipital lesion of a female patient (age at onset 13.8 years) with Balo's concentric sclerosis. A right homonym hemianopsia persisted. Metabolite patterns were in line with initial active demyelination followed by gliosis and partial recovery of neuroaxonal metabolites. Fractional anisotropy and mean diffusivity of tissue water remained severely altered. Fiber tracking confirmed a disruption in the geniculo-calcarine tract as well as involvement of the corpus callosum. MRS and DTI depict complementary parameters, but DTI seems to correlate better with clinical symptoms."],["dc.identifier.doi","10.1007/s00234-008-0470-y"],["dc.identifier.gro","3143158"],["dc.identifier.isi","000262536300006"],["dc.identifier.pmid","18958461"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/641"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.issn","0028-3940"],["dc.title","Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]