Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.

Autor:	Serrano PL; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil.; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Rodrigues TPV; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Pinto LD; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Pereira IC; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Farias IB; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Cavalheiro RBR; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Mendes PM; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Peixoto KO; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Barile JP; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Seneor DD; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Correa Silva EG; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil., Oliveira ASB; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Pinto WBVR; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil., Sgobbi P; PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil.; Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil.
Jazyk:	angličtina
Zdroj:	Current issues in molecular biology [Curr Issues Mol Biol] 2024 May 05; Vol. 46 (5), pp. 4309-4323. Date of Electronic Publication: 2024 May 05.
DOI:	10.3390/cimb46050262
Abstrakt:	Leukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still needs the proper identification of diagnostic, prognostic, and monitoring biomarkers. The aim of this study was to determine the diagnostic and prognostic value of chitinases and neurofilament light chain as biomarkers for ALSP. A cross-sectional study was performed to analyze cerebrospinal fluid levels of chitinases (chitotriosidase and chitinase 3-like 2) and neurofilament light chain in five different groups: (i) normal health individuals; (ii) patients with definitive diagnosis of ALSP and genetic confirmation; (iii) asymptomatic patients with CSF1R variants; (iv) patients with other adult-onset leukodystrophies; and (v) patients with amyotrophic lateral sclerosis (external control group). Chitinase levels showed a statistical correlation with clinical assessment parameters in ALSP patients. Chitinase levels were also distinct between ALSP and the other leukodystrophies. Significant differences were noted in the levels of chitinases and neurofilament light chain comparing symptomatic (ALSP) and asymptomatic individuals with CSF1R variants. This study is the first to establish chitinases as a potential biomarker for ALSP and confirms neurofilament light chain as a good biomarker for primary microgliopathies.
Databáze:	MEDLINE
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