Dreha-Kulaczewski, Steffi F.

[["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","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.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"]]

[["dc.bibliographiccitation.firstpage","91"],["dc.bibliographiccitation.journal","JIMD reports"],["dc.bibliographiccitation.lastpage","99"],["dc.bibliographiccitation.volume","13"],["dc.contributor.author","Dreha-Kulaczewski, S."],["dc.contributor.author","Kalscheuer, V."],["dc.contributor.author","Tzschach, A."],["dc.contributor.author","Hu, H."],["dc.contributor.author","Helms, G."],["dc.contributor.author","Brockmann, K."],["dc.contributor.author","Weddige, A."],["dc.contributor.author","Dechent, P."],["dc.contributor.author","Schlüter, G."],["dc.contributor.author","Krätzner, R."],["dc.contributor.author","Ropers, H. H."],["dc.contributor.author","Gärtner, J."],["dc.contributor.author","Zirn, B."],["dc.date.accessioned","2018-02-15T10:23:08Z"],["dc.date.available","2018-02-15T10:23:08Z"],["dc.date.issued","2013"],["dc.description.abstract","X-linked creatine transport (CRTR) deficiency, caused by mutations in the SLC6A8 gene, leads to intellectual disability, speech delay, epilepsy, and autistic behavior in hemizygous males. Additional diagnostic features are depleted brain creatine levels and increased creatine/creatinine ratio (cr/crn) in urine. In heterozygous females the phenotype is highly variable and diagnostic hallmarks might be inconclusive. This survey aims to explore the intrafamilial variability of clinical and brain proton Magnetic Resonance Spectroscopy (MRS) findings in males and females with CRTR deficiency. X-chromosome exome sequencing identified a novel missense mutation in the SLC6A8 gene (p.G351R) in a large family with X-linked intellectual disability. Detailed clinical investigations including neuropsychological assessment, measurement of in vivo brain creatine concentrations using quantitative MRS, and analyses of creatine metabolites in urine were performed in five clinically affected family members including three heterozygous females and one hemizygous male confirming the diagnosis of CRTR deficiency. The severe phenotype of the hemizygous male was accompanied by most distinct aberrations of brain creatine concentrations (-83% in gray and -79% in white matter of age-matched normal controls) and urinary creatine/creatinine ratio. In contrast, the heterozygous females showed varying albeit generally milder phenotypes with less severe brain creatine (-50% to -33% in gray and -45% to none in white matter) and biochemical urine abnormalities. An intrafamilial correlation between female phenotype, brain creatine depletion, and urinary creatine abnormalities was observed. The combination of powerful new technologies like exome-next-generation sequencing with thorough systematic evaluation of patients will further expand the clinical spectrum of neurometabolic diseases."],["dc.identifier.doi","10.1007/8904_2013_261"],["dc.identifier.pmid","24190795"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/12255"],["dc.language.iso","en"],["dc.notes.status","final"],["dc.relation.isbn","978-3-642-54148-3"],["dc.relation.isbn","978-3-642-54149-0"],["dc.title","A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1049"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Journal of Neurology"],["dc.bibliographiccitation.lastpage","1058"],["dc.bibliographiccitation.volume","255"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Boennemann, Carsten"],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Kyllerman, Marten"],["dc.contributor.author","Brueck, Wolfgang"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Huehne, Kathrin"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Rautenstrauss, Bernd"],["dc.date.accessioned","2017-09-07T11:48:16Z"],["dc.date.available","2017-09-07T11:48:16Z"],["dc.date.issued","2008"],["dc.description.abstract","Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot-Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI) investigations were performed in four unrelated patients aged 7 to 38 years with early onset axonal CMT neuropathy. Three distinct and so far undescribed MFN2 mutations were detected. Two patients had secondary macrocephaly and mild diffuse predominantly periventricular white matter alterations on MRI. In addition, one boy had symmetrical T2-hyperintensities in both thalami. Two patients had optic atrophy, one of them with normal MRI. In three patients proton MRS revealed elevated concentrations of total N-acetyl compounds (neuronal marker), total creatine (found in all cells) and myo-inositol (astrocytic marker) in cerebral white and gray matter though with regional variation. These alterations were most pronounced in the two patients with abnormal MRI. DTI of these patients revealed mild reductions of fractional anisotropy and mild increase of mean diffusivity in white matter. The present findings indicate an enhanced cellular density in cerebral white matter of MFN2 neuropathy which is primarily due to a reactive gliosis without axonal damage and possibly accompanied by mild demyelination."],["dc.identifier.doi","10.1007/s00415-008-0847-1"],["dc.identifier.gro","3143273"],["dc.identifier.isi","000258025000016"],["dc.identifier.pmid","18425620"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/769"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.publisher.place","Heidelberg"],["dc.relation.issn","0340-5354"],["dc.title","Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","39"],["dc.bibliographiccitation.journal","European Journal of Paediatric Neurology"],["dc.bibliographiccitation.lastpage","39"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Dreha-Kulaczewski, S."],["dc.contributor.author","Dechent, P."],["dc.contributor.author","Helms, G."],["dc.contributor.author","Frahm, J."],["dc.contributor.author","Gaertner, J."],["dc.contributor.author","Brockmann, K."],["dc.date.accessioned","2018-04-23T11:47:36Z"],["dc.date.available","2018-04-23T11:47:36Z"],["dc.date.issued","2007"],["dc.identifier.doi","10.1016/s1090-3798(08)70391-x"],["dc.identifier.gro","3142236"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/13360"],["dc.language.iso","en"],["dc.notes.intern","lifescience updates Crossref Import"],["dc.notes.status","final"],["dc.relation.issn","1090-3798"],["dc.title","DO06 Complete recovery of NAA reduction in white matter disorders demonstrated by serial proton MRS"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","441"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","NMR in Biomedicine"],["dc.bibliographiccitation.lastpage","445"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","van der Graaf, M."],["dc.contributor.author","Willemsen, M. A."],["dc.contributor.author","Engelke, U."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Heerschap, A."],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Wevers, R. A."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:46:02Z"],["dc.date.available","2017-09-07T11:46:02Z"],["dc.date.issued","2010"],["dc.description.abstract","Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder affecting predominantly the central nervous system. The disease is characterized by the accumulation of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S-Ado) in tissue and body fluids. Three children presented with muscular hypotonia, psychomotor delay, behavioral abnormalities, and white matter changes on brain MRI. Two of them were affected by seizures. Screening for inborn errors of metabolism including in vitro high resolution proton MRS revealed an ADSL deficiency that was confirmed genetically in all cases. All patients were studied by in vivo proton MRS. In vitro high resolution proton MRS of patient cerebrospinal fluid showed singlet resonances at 8.27 and 8.29 ppm that correspond to accumulated S-Ado. In vivo proton MRS measurements also revealed a prominent signal at 8.3 ppm in gray and white matter brain regions of all patients. The resonance was undetectable in healthy human brain. In vivo proton MRS provides a conclusive finding in ADSL deficiency and represents a reliable noninvasive diagnostic tool for this neurometabolic disorder. Copyright (C) 2010 John Wiley & Sons, Ltd."],["dc.identifier.doi","10.1002/nbm.1480"],["dc.identifier.gro","3142918"],["dc.identifier.isi","000279526300001"],["dc.identifier.pmid","20175147"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/375"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","John Wiley & Sons Ltd"],["dc.relation.issn","0952-3480"],["dc.title","In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","274"],["dc.bibliographiccitation.lastpage","274"],["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","2017-09-07T11:49:51Z"],["dc.date.available","2017-09-07T11:49:51Z"],["dc.date.issued","2007"],["dc.identifier.gro","3143527"],["dc.identifier.isi","000244645100018"],["dc.identifier.issn","0340-6199"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1051"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.publisher.place","New York"],["dc.relation.eventend","2007-03-02"],["dc.relation.eventlocation","Max-Planck-Institute for Experimental Medicine, Göttingen"],["dc.relation.eventstart","2007-03-01"],["dc.relation.ispartof","European Journal of Pediatrics, 166(3)"],["dc.title","Complete recovery of NAA reduction in white matter disorders demonstrated by proton MRS"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]