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β-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain

1999; Elsevier BV; Volume: 1455; Issue: 1 Linguagem: Inglês

10.1016/s0925-4439(99)00078-2

1879-260X

Stephanie Grünewald, Karin M.L.C. Huyben, J.G.N. de Jong, Jan A. M. Smeitink, Estella Rubio, Godfried H.J. Boers, Harald S. Conradt, U. Wendel, Ron A. Wevers,

Galectins and Cancer Biology

As carbohydrate-deficient glycoprotein syndromes (CDGS) are multisystemic disorders with impaired central nervous function in nearly all cases, we tested isoforms of β-trace protein (βTP), a 'brain-type' glycosylated protein in cerebrospinal fluid (CSF) of nine patients with the characteristic CDGS type I pattern of serum transferrin. Whereas the serum transferrin pattern did not discriminate between the various subtypes of CDGS type I (CDGS type Ia, type Ic and patients with unknown defect), βTP isoforms of CDGS type Ia patients differed from that of the other CDGS type I patients. The percentage of abnormal βTP isoforms correlated with the severity of the neurological symptoms. Furthermore, two patients are described, who illustrate that abnormal protein N-glycosylation can occur restricted to either the 'peripheral' serum or the central nervous system compartment. This is the first report presenting evidence for an N-glycosylation defect restricted to the brain. Testing βTP isoforms is a useful tool to detect protein N-glycosylation disorders in the central nervous system.