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dc.contributor.authorAspli, Klaus Thanke
dc.contributor.authorAaseth, Jan
dc.contributor.authorHolmøy, Trygve
dc.contributor.authorBlennow, Kaj
dc.contributor.authorZetterberg, Henrik
dc.contributor.authorKirsebom, Bjørn-Eivind Seljelid
dc.contributor.authorFladby, Tormod
dc.contributor.authorSelnes, Per
dc.date.accessioned2024-01-19T11:24:33Z
dc.date.available2024-01-19T11:24:33Z
dc.date.issued2023-10-26
dc.description.abstractSkogholt’s disease is a rare neurological disorder that is only observed in a small Norwegian kindred. It typically manifests in adulthood with uncharacteristic neurological symptoms from both the peripheral and central nervous systems. The etiology of the observed cerebral white matter lesions and peripheral myelin pathology is unclear. Increased cerebrospinal fluid (CSF) concentrations of protein have been confirmed, and recently, very high concentrations of CSF total and phosphorylated tau have been detected in Skogholt patients. The symptoms and observed biomarker changes in Skogholt’s disease are largely nonspecific, and further studies are necessary to elucidate the disease mechanisms. Here, we report the results of neurochemical analyses of plasma and CSF, as well as results from the morphometric segmentation of cerebral magnetic resonance imaging. We analyzed the biomarkers Aβ<sub>1––42</sub>, Aβ<sub>1–40</sub>, Aβ<sub>x–38</sub>, Aβ<sub>x–40</sub>, Aβ<sub>x–42</sub>, total and phosphorylated tau, glial fibrillary acidic protein, neurofilament light chain, platelet-derived growth factor receptor beta, and beta-trace protein. All analyzed CSF biomarkers, except neurofilament light chain and Aβ1/<sub>x–42</sub>, were increased several-fold. In blood, none of these biomarkers were significantly different between the Skogholt and control groups. MRI volumetric segmentation revealed decreases in the ventricular, white matter, and choroid plexus volumes in the Skogholt group, with an accompanying increase in white matter lesions. The cortical thickness and subcortical gray matter volumes were increased in the Skogholt group. Pathophysiological changes resulting from choroidal dysfunction and/or abnormal CSF turnover, which may cause the increases in CSF protein and brain biomarker levels, are discussed.en_US
dc.identifier.citationAspli, Aaseth, Holmøy, Blennow, Zetterberg, Kirsebom, Fladby, Selnes. CSF, Blood, and MRI Biomarkers in Skogholt’s Disease—A Rare Neurodegenerative Disease in a Norwegian Kindred. Brain Sciences. 2023;13(11)en_US
dc.identifier.cristinIDFRIDAID 2215154
dc.identifier.doi10.3390/brainsci13111511
dc.identifier.issn2076-3425
dc.identifier.urihttps://hdl.handle.net/10037/32644
dc.language.isoengen_US
dc.publisherMDPIen_US
dc.relation.journalBrain Sciences
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/HORIZON/101053962/Sweden/Fluid Biomarkers for Neurodegenerative Dementias/FLUBIODEM/en_US
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/H2020/860197/Netherlands/Multi-omics Interdisciplinary Research Integration to Address DEmentia diagnosis/MIRIADE/en_US
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2023 The Author(s)en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0en_US
dc.rightsAttribution 4.0 International (CC BY 4.0)en_US
dc.titleCSF, Blood, and MRI Biomarkers in Skogholt’s Disease—A Rare Neurodegenerative Disease in a Norwegian Kindreden_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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Attribution 4.0 International (CC BY 4.0)
Med mindre det står noe annet, er denne innførselens lisens beskrevet som Attribution 4.0 International (CC BY 4.0)