Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis

Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder leading to upper and lower motoneurons degeneration. Although several mechanisms potentially involved in disease development have been identified, its pathogenesis is not fully understood. From the patient side, ALS diagnosis, still...

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Bibliographic Details
Main Authors: Eleonora Sabetta, Davide Ferrari, Locatelli Massimo, Sulev Kõks
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Neurology
Subjects:
ALS
STR
C9ORF72
ataxin
Huntington’s disease
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2025.1522445/full
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