CSF, Blood, and MRI Biomarkers in Skogholt's Disease-A Rare Neurodegenerative Disease in a Norwegian Kindred.

ABSTRACT: Skogholt'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 th

SUBMITTER: Aspli KT 

PROVIDER: S-EPMC10669496 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature