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Spinal cerebellar ataxia type 3, SCA3) is the most common normal chromosomal explicit hereditary co-effect disorder.
given the slow progression and ideotype variability of SCA3, the search for sensitive and objective biomarkers of disease severity and progression is critical to the clinical treatment and future development of SCA3.
nerve wire light chain protein (NfL) is the smallest of the three sub-units of nerve wire.
recent studies have shown that serum or plasma NfL can be used as a useful marker of neuroaxid damage to assess the severity and progression of many neurodegenerative diseases.
neuropathology and neuroimaging studies have confirmed a wide range of neural axon damage in SCA3.
, it is reasonable to assume that NfL may be a potential biomarker of SCA3 neural axon damage and disease severity.
addition, a previous study found elevated serum NfL (sNfL) levels in SCA3 patients, further supporting this hypothesis.
Peng and others at Xiangya Hospital, Central South University, explored the distribution of serum NfL levels at different stages of SCA3 and determined whether they were related to the severity of the disease.
in this lateral study, they included 185 healthy controls and 235 carriers of ATXN3 gene mutations (17 asymptomatic, 20 preclinical, 198 co-dysfunctional).
sNfL concentration was measured using a single-molecule array (Simoa) platform.
the severity of clinical diseases were assessed using the SARA and Non-Resonance Disorder Signs Scale (INAS).
the integrity of gray volume and white fibers was further assessed with MRI in 50 patients with resonance disorders.
found that the sNfL concentrations of asymptomatic, preclinical and comorbant ATXN3 gene mutation carriers were higher than those in the control group (12.18 (10.20-13.92), 21.84 (18.1) 37-23.45, 36.06 , 30.04-45.90, 8.24, 5.92-10.84, pg/mL, all p. 0.001).
SNfL is associated with SARA (p .lt; 0.0001) and INAS (p. slt; 0.0001), there are significant differences after repeated adjustments to age and CAG.
addition, we also observed a negative correlation between sNfL and the gray mass volume and mean diffusivity of the small leaves at the left center front and left center.
novelty of this study is that it has been found that sNfL levels increase in SCA3 and are associated with the severity of clinical diseases, which means that sNfL may be a biomarker of the severity of disease in SCA3.