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- Title
Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.
- Authors
Tarasiuk, Joanna; Kapica-Topczewska, Katarzyna; Kułakowska, Alina; Halicka, Dorota; Drozdowski, Wiesław; Kornhuber, Johannes; Lewczuk, Piotr
- 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.
- Subjects
METACHROMATIC leukodystrophy; CEREBROSPINAL fluid examination; LYSOSOMAL storage diseases; ARYLSULFATASES; TAU proteins; SULFATIDES; CENTRAL nervous system; PERIPHERAL nervous system
- Publication
Journal of Neural Transmission, 2012, Vol 119, Issue 7, p759
- ISSN
0300-9564
- Publication type
Article
- DOI
10.1007/s00702-012-0826-7