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Research Council","award":["2022-01018"],"award-info":[{"award-number":["2022-01018"]}]},{"name":"Norwegian Research Council","award":["101053962"],"award-info":[{"award-number":["101053962"]}]},{"name":"Norwegian Research Council","award":["ALFGBG-7132"],"award-info":[{"award-number":["ALFGBG-7132"]}]},{"name":"Norwegian Research Council","award":["201809-2016862"],"award-info":[{"award-number":["201809-2016862"]}]},{"name":"Norwegian Research Council","award":["ADSF-21-831376-C"],"award-info":[{"award-number":["ADSF-21-831376-C"]}]},{"name":"Norwegian Research Council","award":["ADSF-21-831381-C"],"award-info":[{"award-number":["ADSF-21-831381-C"]}]},{"name":"Norwegian Research Council","award":["ADSF-21-831377-C"],"award-info":[{"award-number":["ADSF-21-831377-C"]}]},{"name":"Norwegian Research Council","award":["FO2022-0270"],"award-info":[{"award-number":["FO2022-0270"]}]},{"name":"Norwegian Research Council","award":["860197"],"award-info":[{"award-number":["860197"]}]},{"name":"Norwegian Research Council","award":["JPND2021-00694"],"award-info":[{"award-number":["JPND2021-00694"]}]},{"name":"Norwegian Research Council","award":["UKDRI-1003"],"award-info":[{"award-number":["UKDRI-1003"]}]},{"name":"Norwegian Research Council","award":["HNF1540-20"],"award-info":[{"award-number":["HNF1540-20"]}]},{"name":"Norwegian Research Council","award":["311993"],"award-info":[{"award-number":["311993"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Skogholt\u2019s 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\u2019s 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 A\u03b21\u2013\u201342, A\u03b21\u201340, A\u03b2x\u201338, A\u03b2x\u201340, A\u03b2x\u201342, 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 A\u03b21\/x\u201342, 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.<\/jats:p>","DOI":"10.3390\/brainsci13111511","type":"journal-article","created":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T02:40:07Z","timestamp":1698288007000},"page":"1511","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["CSF, Blood, and MRI Biomarkers in Skogholt\u2019s Disease\u2014A Rare Neurodegenerative Disease in a Norwegian Kindred"],"prefix":"10.3390","volume":"13","author":[{"given":"Klaus Thanke","family":"Aspli","sequence":"first","affiliation":[{"name":"Department of Neurology, Innlandet Hospital Trust, 2381 Lillehammer, Norway"},{"name":"Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7518-5703","authenticated-orcid":false,"given":"Jan O.","family":"Aaseth","sequence":"additional","affiliation":[{"name":"Research Department, Innlandet Hospital Trust, 2381 Brumunddal, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trygve","family":"Holm\u00f8y","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway"},{"name":"Department of Neurology, Akershus University Hospital, 1478 Nordbyhagen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaj","family":"Blennow","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at the University of Gothenburg, 43153 M\u00f6lndal, Sweden"},{"name":"Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, 43153 M\u00f6lndal, Sweden"},{"name":"Institut du Cerveau et de la Moelle \u00c9pini\u00e8re (ICM), Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, 75651 Paris, France"},{"name":"First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei 230001, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Zetterberg","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at the University of Gothenburg, 43153 M\u00f6lndal, Sweden"},{"name":"Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, 43153 M\u00f6lndal, Sweden"},{"name":"Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK"},{"name":"UK Dementia Research Institute, University College London, London WC1N 3AR, UK"},{"name":"Hong Kong Center for Neurodegenerative Diseases, Hong Kong, China"},{"name":"Wisconsin Alzheimer\u2019s Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53706, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f8rn-Eivind","family":"Kirsebom","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway"},{"name":"Department of Neurology, University Hospital of North Norway, 9019 Troms\u00f8, Norway"},{"name":"Department of Psychology, Faculty of Health Sciences, UiT, the Arctic University of Norway, 9019 Troms\u00f8, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tormod","family":"Fladby","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway"},{"name":"Department of Neurology, Akershus University Hospital, 1478 Nordbyhagen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5131-9757","authenticated-orcid":false,"given":"Per","family":"Selnes","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, University of Oslo, 0316 Oslo, Norway"},{"name":"Department of Research, Akershus University Hospital, 1478 Nordbyhagen, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.jtemb.2014.12.002","article-title":"Iron and copper in progressive demyelination\u2014New lessons from Skogholt\u2019s disease","volume":"31","author":"Aspli","year":"2015","journal-title":"J. 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