title: Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.
abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease due to deficiency or absence of arylsulfatase A enzyme (ASA) with sulfatide accumulation in the central and peripheral nervous system, kidneys, and gallbladder, leading to many dysfunctions. One of the clinical forms of the disease is a late juvenile MLD. To our best knowledge, this is the first report describing increased Tau/pTau and normal Aβ1-42 concentrations in the CSF of the late juvenile MLD patient.
authors.affiliation: Department of Neurology, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Tarasiuk
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kapica-Topczewska
authors.forename: Alina
authors.initials: A
authors.lastname: Kułakowska
authors.forename: Dorota
authors.initials: D
authors.lastname: Halicka
authors.forename: Wiesław
authors.initials: W
authors.lastname: Drozdowski
authors.forename: Johannes
authors.initials: J
authors.lastname: Kornhuber
authors.forename: Piotr
authors.initials: P
authors.lastname: Lewczuk
mesh_terms: D000328:Adult; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D001921:Brain / Q000473:pathology; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000134:cerebrospinal fluid* / Q000473:pathology; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010446:Peptide Fragments / Q000134:cerebrospinal fluid; D010766:Phosphorylation; D016875:tau Proteins / Q000134:cerebrospinal fluid*
chemical_list: D016229:Amyloid beta-Peptides; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); D016875:tau Proteins