Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.

doi:10.1038/s41588-026-02570-6

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.

Nature genetics - 1 May 2026

Zhou Zinan, Kim Junho, Huang August Yue, Nolan Matthew, Park Junseok, Doan Ryan, Shin Taehwan, Miller Michael B, Bae Mingyun, Zhao Boxun, Kim Jinhyeong, Chhouk Brian, Morillo Katherine, Yeh Rebecca C, Kenny Connor, Neil Jennifer E, Lee Chao-Zong, Ohkubo Takuya, Ravits John, Ansorge Olaf, Ostrow Lyle W, Lagier-Tourenne Clotilde, Lee Eunjung Alice, Walsh Christopher A

Abstract excerpt

Although mutations in many genes cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), most cases are sporadic (sALS and sFTD) with unclear etiology. Here we tested whether somatic mutations contribute to sALS and sFTD by deep targeted sequencing of 88 neurodegeneration-related genes in postmortem brain and spinal cord samples from 399 sporadic cases and 144 controls. Predicted...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brain

Share to C9orf72 Protein

Share to Frontotemporal Dementia

Share to LMNA gene

Share to High-Throughput Nucleotide Sequencing

Share to Mosaicism

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 41986690
DOI: 10.1038/s41588-026-02570-6
PMCID: PMC13175891

Genes

DYNC1H1
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.PMID 41986690Read ↗

Somatic mosaicism in amyotrophic lateral sclerosis and frontotemporal dementia identifies focal mutations associated with widespread degenerationSemantic proximity Read ↗

Somatic mutations in ALS genes in the motor cortex of sporadic ALS patientsSemantic proximity Read ↗

Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Semantic proximity Read ↗

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Genetic variability in sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Somatic mutations in neurodegeneration: An update.Semantic proximity Read ↗

Investigation of somatic mutations in human brains targeting genes associated with Parkinson’s diseaseSemantic proximity Read ↗

FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual DisabilitySemantic proximity Read ↗

Somatic mutations in Parkinson disease are enriched in synaptic and neuronal processesSemantic proximity Read ↗

Somatic mutations in cerebral cortical malformations.Semantic proximity Read ↗

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.