ResearchHuman
C9orf72 ALS study finds little difference in cognition or behaviour, except visuospatial skills
Mainly of interest to researchers studying genotype–phenotype relationships and cognitive outcomes
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ResearchReviewHumanAnimal
The nucleolus may link cellular stress to ALS and other neurodegenerative diseases
Mainly of interest to researchers studying nucleolar stress, C9orf72-linked ALS/FTD and neurodegeneration.
ResearchHuman
ALS linked to C9orf72 repeat expansion showed greater difficulty interpreting thoughts and emotions
Relevant to researchers studying genotype-linked cognitive and affective theory-of-mind impairment
ResearchHuman
Researchers create two stem-cell lines from people with C9orf72-related ALS
Provides validated C9orf72 patient-derived iPSC lines for disease-mechanism studies.
ResearchHuman
A distinct astrocyte RNA pattern in Alzheimer’s disease runs in the opposite direction in ALS
Provides replicated donor-level lncRNA findings and methodological insights for ALS neurobiology research
ResearchHuman
An isolated nucleolus assay links electrostatic forces to changes caused by disease-associated proteins
Important for researchers studying nucleolar integrity, arginine-rich dipeptide repeats and C9orf72-linked neurodegeneration.
ResearchHuman
Patient-derived microglia models show differences between genetic and sporadic FTD
Directly informs microglial phagocytosis, autophagy, lysosomal pathways, and C9orf72 versus sporadic disease models.
ResearchHuman
A Brazilian study found pathogenic gene variants in 30 people with motor neuron disease
Mainly of interest to researchers studying MND genetics, testing patterns, and population variation.
ResearchHumanAnimal
A fruit-fly study links C9orf72 repeat products in glial cells to reduced lifespan
Important for researchers studying glial toxicity, DPRs, ERV activation and C9orf72 disease models
ResearchHumanMouse
Wild-type C9orf72 was linked to protein-clearance problems in experimental Huntington’s disease models
Relevant to researchers studying C9orf72, proteostasis and neurodegenerative disease mechanisms.
ResearchHumanCells
RNA exosome activity suppresses toxic protein production linked to C9orf72 ALS
Provides mechanistic evidence linking RNA-exosome surveillance and EXOSC3 to RAN translation and DPR production.
ResearchHuman
A CSF protein study identified genetic signatures linked to frontotemporal lobar degeneration
Directly informs proteomic signatures, genetic subgroup biology and diagnostic panel development.
ResearchHuman
A Lithuanian study found pathogenic genetic variants in 15.7% of patients with motor neuron disease
Mainly of interest to researchers studying MND genetics and regional variation
ResearchHuman
Whole-genome sequencing found a likely genetic cause in 13% of people with ALS in a 500-person study
Mainly of interest to researchers studying ALS genetics and diagnostic yield
ResearchHuman
Multi-omic study identifies synaptic changes linked to C9ORF72-related disease
Important for researchers studying synaptic dysfunction, cryptic transcripts, and C9ORF72 mechanisms.
Trials & TreatmentsHumanMouse
Platelet factor 4 improved disease measures in SOD1 ALS mice
Mainly of interest to researchers studying PF4, OPTN-dependent autophagy and SOD1 pathology
ResearchHumanMouse
Neuronal translation features may favor production of toxic C9orf72 repeat proteins
Important for researchers studying RAN translation and neuron-specific translational regulation
ResearchHumanMouse
A perspective calls for broader ALS models beyond protein-focused mouse studies
Relevant to researchers studying protein pathology, transgenic models, and translational ALS methods.
ResearchHuman
A single-cell atlas links energy-related gene activity with vulnerable neurons in FTD-MND disease
Provides single-cell evidence linking neuronal vulnerability to cellular respiration and ATP synthesis.
ResearchHuman
A transcriptomic study found shared and distinct molecular changes in ALS subgroups
Directly relevant to researchers studying C9orf72 biology, transcriptomics and subtype-specific mechanisms.
ResearchHumanMouse
A new C9ORF72 mouse model develops mild motor weakness and ALS/FTD-related pathology
Provides a new animal model linking repeat expression, C9orf72 loss, spinal pathology, and motor dysfunction.
ResearchReview
A review identifies RAN translation as a major disease mechanism in C9ORF72 ALS and FTD models
Important for researchers studying RAN translation as a pathogenic mechanism and therapeutic target.
ResearchHumanAnimal
A bibliometric study maps changing priorities in ALS immunotherapy research
Maps research trends, immune targets, collaboration networks, and translational priorities.
ResearchHumanAnimal
Blocking stress-response pathways reduced disease-related damage in laboratory models of C9orf72 ALS and FTD
Provides mechanistic and preclinical evidence linking poly(GR), the integrated stress response and ATXN2
Care & Living
A case report describes reversible dropped head syndrome linked to olanzapine-associated cervical dystonia
Relevant to clinicians assessing dropped head syndrome and olanzapine-associated cervical dystonia in the FTD-ALS spectrum.
ResearchHuman
Researchers identified efficient CRISPR guide pairs for removing the C9orf72 repeat expansion in patient stem cells
Mainly of interest to researchers studying C9orf72 mechanisms, guide-RNA screening and genome-editing safety.
ResearchMouse
A new mouse model shows mild motor and protein changes linked to C9orf72 ALS and FTD
Provides a CRISPR knock-in model and proteomic data for studying polyGA pathology
ResearchHumanAnimal
TYK2 was linked to inflammation in TDP-43-related brain disease
Important for researchers studying TYK2, cryptic exons and TDP-43-associated neuroinflammation
Research
Catching up with the 2024 Poster prize candidates
Mainly of interest to researchers following genetics, biomarkers, models and early-career research developments.
Research
Gut bacteria and inflammation may interact with an ALS-linked gene in mice
Identifies a gene–microbe interaction and bacterial glycogen pathway for further investigation
ResearchMouse
A mouse model combines C9orf72 repeat expression with reduced C9orf72 levels
Provides a new CNS-targeted mouse model linking C9orf72 repeats, pathology, and motor dysfunction.
Research Compass
Stem-cell vesicles improved ALS motor neurons in laboratory models
Covers current findings across biomarkers, mechanisms, trials, genetics and translational research
Research
Estimating disease risk in families carrying changes in C9orf72 gene
Mainly of interest to researchers studying penetrance and genetic modifiers of C9orf72 disease.
ResearchHuman
Brain network changes were detected across clinical stages in C9orf72 carriers
Important for researchers studying stage-specific neuroimaging biomarkers and disease trajectories.
ResearchHuman
C9orf72-related protein buildup was linked to increased histone H3 phosphorylation
Directly informs epigenetic mechanisms and experimental targets in C9orf72 ALS/FTD.
Research
A fly study links C9orf72 repeat products in glial cells to neurodegeneration
Provides mechanistic evidence on glial toxicity, DPRs, ERV activation, and non-cell-autonomous effects.
ResearchCase reportHuman
A C9orf72-linked family showed atypical primary lateral sclerosis features
Mainly of interest to researchers studying C9orf72 phenotypes and the ALS-FTD spectrum.
Research
Symposium highlights: A spotlight on glial cells in MND
Directly relevant to researchers studying glial mechanisms, genetic pathways and therapeutic targets
Trials & Treatments
International clinical trial updates to look out for in 2025
Relevant to clinicians monitoring upcoming efficacy and safety evidence
ResearchHuman
Researchers developed a fluorescence test for difficult-to-detect repeat RNAs
Provides a sensitive assay and structural insights for studying GC-rich C9ORF72 repeat RNA.
Trials & TreatmentsHuman
Genomic analysis identifies acamprosate as a candidate treatment for C9orf72-related ALS and FTD
Mainly of interest to researchers studying genomic drug repurposing and C9orf72 disease biology.
Research
A protocol uses single-molecule sequencing to measure C9orf72 repeat expansions
Provides a detailed amplification-free sequencing method for accurately measuring large C9orf72 expansions.
Research
Behind the scenes with an award winning MND researcher
Relevant to researchers studying C9orf72 biology, disease models and therapeutic approaches
ResearchHuman
C9orf72 expansion carriers with frontotemporal dementia had reduced parasympathetic activity
Provides genetic, autonomic, neuroimaging and biomarker findings across the C9orf72 disease spectrum.
ResearchHumanMouse
C9orf72 was linked to disrupted liver lipid production in a laboratory study
Offers mechanistic data linking C9orf72 to SEC16A, COPII transport and lipid metabolism.
ResearchMouseCells
Low glucose metabolism worsened C9orf72-related ALS and FTD features in a study
Directly informs research on glucose metabolism, RAN translation, DPR toxicity and C9orf72 ALS/FTD models.
Research
Cracking the genetic code in MND
Mainly of interest to researchers following oligogenicity and genomics work
ResearchHumanCells
Researchers generated stem cell lines from blood samples of two people with C9ORF72-associated ALS
Provides a detailed patient-derived iPSC protocol for studying C9ORF72 repeat-expansion ALS.
ResearchHuman
A Chinese study found rare genetic variants in sporadic Alzheimer’s disease and frontotemporal lobar degeneration
Mainly of interest to researchers studying genetic overlap and variants across neurodegenerative diseases.
ResearchHumanMouse
Longer C9orf72 repeats worsened disease features in transgenic mice
Directly informs repeat-length effects, animal models, molecular pathology and early biomarker development.
Trials & TreatmentsHumanMouse
Antibodies reduced disease features in mice with C9orf72-related ALS and FTD
Mainly of interest to researchers studying RAN proteins, antibody delivery and C9orf72 disease models.