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.
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Tarasiuk, J., Kapica-Topczewska, K., Kułakowska, A. et al. Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report. J Neural Transm 119, 759–762 (2012). https://doi.org/10.1007/s00702-012-0826-7
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DOI: https://doi.org/10.1007/s00702-012-0826-7