Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients.
CAG repeat expansion
HTT gene
amyotrophic lateral sclerosis
biomarkers
neurofilament light chain
Journal
Frontiers in neuroscience
ISSN: 1662-4548
Titre abrégé: Front Neurosci
Pays: Switzerland
ID NLM: 101478481
Informations de publication
Date de publication:
2021
2021
Historique:
received:
14
04
2021
accepted:
06
08
2021
entrez:
20
9
2021
pubmed:
21
9
2021
medline:
21
9
2021
Statut:
epublish
Résumé
To 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. We 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. Intermediate 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 ( According 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.
Identifiants
pubmed: 34539331
doi: 10.3389/fnins.2021.695049
pmc: PMC8446383
doi:
Types de publication
Journal Article
Langues
eng
Pagination
695049Informations de copyright
Copyright © 2021 Ingannato, Bagnoli, Mazzeo, Bessi, Matà, Del Mastio, Lombardi, Ferrari, Sorbi and Nacmias.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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