Movement Disorders| January 27, 2021

Lin J, Zheng Y, Liu Y, Lin Y, Wang Q, Lin XH, Zhu W, Lin WH, Wang N, Chen WJ and Fu Y

Mov Disord. 2021 Jan 27

DOI: https://doi.org/10.1002/mds.28509

ABSTRACT

Background

Wilson disease is a rare, disabling, neurological genetic disease. Biomarkers of brain damage are less well developed.

Objective

The aim of this study was to evaluate the utility of plasma glial fibrillary acidic protein as a biomarker for neurological involvement in patients with Wilson disease.

Methods

This prospective cross‐observational study compared plasma glial fibrillary acidic protein concentration among different subtypes of patients with Wilson disease and healthy control subjects. Plasma glial fibrillary acidic protein levels were measured in 94 patients and 25 healthy control subjects. Patients were divided into two subtypes: patients with neurological manifestations (n = 74) or hepatic manifestations (n = 20).

Results

Median levels of plasma glial fibrillary acidic protein were significantly elevated in patients with neurological manifestations (143.87 pg/mL) compared with those with hepatic manifestations (107.50 pg/mL) and healthy control subjects (86.85 pg/mL). Receiver operating characteristic curve revealed that a plasma glial fibrillary acidic protein cutoff value of 128.8 pg/mL provides sufficient sensitivity (80.0%) and specificity (63.5%) to differentiate patients with neurological manifestations from those with hepatic manifestations.

Conclusions

Plasma glial fibrillary acidic protein may serve as a biomarker for distinguishing different subtypes of Wilson disease.

This study was performed using the Quanterix HD-1 Analyzer.