Article

Rare neurological and neurodevelopmental variants in ALS link to onset, survival and family history

2026-06-10

Abstract excerpt

<h4>Background</h4> Neurological, neuropsychiatric, and neurodevelopmental disorders cluster in ALS families, sharing a common genetic architecture with ALS. Pathogenic variants in genes associated with other neurological, neurodevelopmental, or neuropsychiatric disorders may also co-occur in ALS and modify phenotype. We have sought to determine the prevalence and clinical pattern of likely-pathogenic/pathogenic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7910cc1e-2607-558c-8433-0b59f2154853
DOI: 10.64898/2026.06.09.26354977

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Rare neurological and neurodevelopmental variants in ALS link to onset, survival and family historyDOI 10.64898/2026.06.09.26354977Read

Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study.Semantic proximity Read

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic VariantsSemantic proximity Read

Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohortsSemantic proximity Read

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.Semantic proximity Read

Genetic variability in sporadic amyotrophic lateral sclerosis.Semantic proximity Read

Genetic overlap between ALS and other neurodegenerative or neuromuscular disorders.Semantic proximity Read

Clinical testing panels for ALS: global distribution, consistency, and challengesSemantic proximity Read

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.Semantic proximity Read

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.Semantic proximity Read

ALS phenotype is influenced by age, sex, and genetics: A population-based study.Semantic proximity Read

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.Semantic proximity Read

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS CohortSemantic proximity Read