Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients

Frontiers in Neuroscience

Benedetta Nacmias¹  Gemma Lombardi¹  Sandro Sorbi¹  Valentina Bessi²  Assunta Ingannato²  Silvia Bagnoli²  Camilla Ferrari²  Salvatore Mazzeo²  Monica Del Mastio³  Sabrina Matà³ 

[1] IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy;NEUROFARBA Department, University of Florence, Florence, Italy;SOD Neurologia 1, Dipartimento Neuromuscolo-Scheletrico e Degli Organi di Senso, Azienda Ospedaliero Universitaria Careggi, Florence, Italy;

关键词: amyotrophic lateral sclerosis;    neurofilament light chain;    CAG repeat expansion;    HTT gene;    biomarkers;   

DOI  :  10.3389/fnins.2021.695049

来源: DOAJ

【 摘 要 】

ObjectiveTo study the possible implication of the two biomarkers, intermediate alleles (IAs) of the Huntingtin (HTT) gene and neurofilament light chain (NfL) levels in plasma, in amyotrophic lateral sclerosis (ALS) patients.MethodsWe analyzed IAs in a cohort of 106 Italian ALS patients and measured the plasma NfL levels in 20% of the patients of the cohort. We correlated the two biomarkers with clinical phenotypes.ResultsIntermediate alleles were present in 7.5% of the patients of our cohort, a frequency higher than that reported in general population. Plasma NfL levels increased with age at onset (p < 0.05). Patients with bulbar onset (BO) had higher plasma NfL concentration (CI −0.61 to −0.06, p = 0.02) and a later age at onset of the disease (CI −24.78 to −4.93, p = 0.006) with respect to the spinal onset (SO) form. Additionally, two of the patients, with IAs and plasma NfL concentration lower with respect to normal alleles’ carriers, presented an age at onset higher than the mean of the entire cohort.ConclusionAccording to our findings, plasma NfL and IAs of HTT gene may represent potential biomarkers in ALS, providing evidence of a possible implication in clinical phenotype.

【 授权许可】

Unknown