Amyotrophic Lateral Sclerosis (ALS) is the primary adult-onset Motor Neuron Disease (MND) in clinical practice, resulting from the progressive and irreversible degeneration of upper and lower motor neurons. Several risk factors associated with an individual or familial predisposing genetic basis led to progressive loss of lower and upper motor neurons. Although most symptoms and signs occur in individuals between 45 and 65 years old, young-onset ALS, starting before 45 years old, and juvenile-onset ALS, starting before 25 years old, currently represent an important contribution to new diagnoses in patients with an identifiable specific monogenic basis. There is also a common compromise of other neurological topographies resulting in other clinical scenarios, such as Frontotemporal Dementia (FTD) and Parkinsonism. A complex oligogenic and monogenic basis has been associated with both sporadic and familial ALS, including several monogenic forms (C9orf72, SOD1, FUS, TARDBP, VCP, ALS2, SETX, SPG11, VAPB, NEK1, TBK1, SQSTM1, CHMP2B, FIG4, ANG, MATR3, SIGMAR1, SPTLC, UBQLN2, ERBB4, CHCHD10, KIF5A, TIA1, LRP12, ANXA11, OPTN, DCTN1, CCNF, ATXN2, PRPH, HNRNPA1, PFN1, CYLD, NEFH).
Several important achievements in the management and care of patients with MND/ALS occurred, especially in the last five years, highlighting marked improvement in diagnosis, expansion of knowledge about genetics and pathogenesis of ALS, recognition of new biomarkers, and new gene-based therapies. The goal of this Research Topic is to present updated and original content in articles related to genetics in MND/ALS.
We invite submissions encompassing all aspects of ALS/MND genomics and genetics, including but not limited to:
- Genetics in familial and sporadic ALS
- Gene-based therapies and clinical trials in ALS
- Clinical studies and case series on specific genetic subtypes of ALS
- Multisystem proteinopathies and their genetic basis
- Genetics of FTD-ALS spectrum disorders
- Juvenile-onset ALS and pediatric ALS genetics
- Biomarker discovery in monogenic ALS
- Molecular mechanisms and novel pathogenic pathways in ALS
- Genotype-phenotype correlations in ALS/MND
- Genetic counseling, ethical, and psychosocial implications in ALS
- Animal and cellular models for ALS genetic research
- Genome-Wide Association Studies (GWAS) and emerging omics approaches in ALS
- Differential diagnosis and genetic overlap in monogenic neuromuscular disorders
Types of manuscripts: Original Research Articles, Review Articles, Systematic Review Articles, Mini Review Articles, Perspective Articles, Hypothesis and Theory Articles, Clinical Trial Articles, Opinion Articles, Brief Research Report Articles, Study Protocol Articles, and Case Reports (Frontiers in Neurology no longer accepts Case Reports, so please consider submitting this article type to Frontiers in Neuroscience.)
Article types and fees
This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:
Brief Research Report
Clinical Trial
Editorial
FAIR² Data
General Commentary
Hypothesis and Theory
Methods
Mini Review
Opinion
Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.
Article types
This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:
Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
