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

Author:

Serrano Paulo de Lima12,Rodrigues Thaiane de Paulo Varollo1,Pinto Leslyê Donato1,Pereira Indiara Correia1,Farias Igor Braga2,Cavalheiro Renan Brandão Rambaldi2,Mendes Patrícia Marques2,Peixoto Kaliny Oliveira2,Barile João Paulo2,Seneor Daniel Delgado2,Correa Silva Eduardo Gleitzmann1,Oliveira Acary Souza Bulle2ORCID,Pinto Wladimir Bocca Vieira de Rezende2ORCID,Sgobbi Paulo12ORCID

Affiliation:

1. PSEG Centro de Pesquisa Clínica, São Paulo 04038-002, SP, Brazil

2. Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo 04039-060, SP, Brazil

Abstract

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.

Publisher

MDPI AG

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