期刊
JOURNAL OF NEURAL TRANSMISSION
卷 119, 期 7, 页码 759-762出版社
SPRINGER WIEN
DOI: 10.1007/s00702-012-0826-7
关键词
Metachromatic leukodystrophy; Arylsulfatase A; Lysosomal storage diseases; Cerebrospinal fluid
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 A beta 1-42 concentrations in the CSF of the late juvenile MLD patient.
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