ArticleJournal of neurology2023
Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.
Article in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 3 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Cognitive and Behavioural Profile of SOD1-ALS Across the ALS-FTD Spectrum: A Systematic Review.International journal of molecular sciences · 2026Pooled it
- The Differential Effects of Genetic Mutations in ALS and FTD Genes on Behavioural and Cognitive Changes: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2025Pooled it
- Systematic review and evidence gap mapping of biomarkers associated with neurological manifestations in patients with COVID-19.Journal of neurology · 2024Pooled it
- Recalibration of the Frontal Behavioural Inventory Cut-Off for Behavioural Screening in Amyotrophic Lateral Sclerosis.European journal of neurology · 2026Article
- Genetic variants among patients with motor neuron disease in Lithuania - a retrospective single-center study.Neurogenetics · 2026Article
- Antisense Dipeptide Repeat Proteins Drive Widescale Purine Metabolism Aberration inInternational journal of molecular sciences · 2026Article
- Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program.Journal of neurology · 2025Article
- Heterogeneity of frequencies of motor neuron disease across ethnicities and geographical areas: focus on Arabic countries in the Mediterranean area.Current opinion in neurology · 2025Review
- The spectrum of behavioral disorders in amyotrophic lateral sclerosis: current view.Journal of neural transmission (Vienna, Austria : 1996) · 2025Review
- Viral and non-viral cellular therapies for neurodegeneration.Frontiers in medicine · 2025Review
- The Basis of Cognitive and Behavioral Dysfunction in Amyotrophic Lateral Sclerosis.Brain and behavior · 2024Review
- Update on recent advances in amyotrophic lateral sclerosis.Journal of neurology · 2024Review
- Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of theNeurology · 2024Article
- The value of routine blood work-up in clinical stratification and prognosis of patients with amyotrophic lateral sclerosis.Journal of neurology · 2024Article
- Understanding depression with amyotrophic lateral sclerosis: a short assessment of facts and perceptions.Journal of neural transmission (Vienna, Austria : 1996) · 2024Review
- The Spectrum of Cognitive Dysfunction in Amyotrophic Lateral Sclerosis: An Update.International journal of molecular sciences · 2023Review
- Bulbar involvement and cognitive features in amyotrophic lateral sclerosis: a retrospective study on 347 patients.Frontiers in aging neuroscience · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAmyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been described as presenting distinct features compared to the general ALS population (C9Neg). We aim to identify the phenotypic traits more closely associated with the HRE and analyse the role of the repeat length as a modifier factor.
methodsWe studied a cohort of 960 ALS patients (101 familial and 859 sporadic cases). Motor phenotype was determined using the MRC scale, the lower motor neuron score (LMNS) and the Penn upper motor neuron score (PUMNS). Neuropsychological profile was studied using the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), the Frontal Behavioral Inventory (FBI), the Beck Depression Inventory-II (BDI-II) and the State-Trait Anxiety Inventory (STAI). A two-step PCR protocol and Southern blotting were performed to determine the presence and the size of C9orf72 HRE, respectively.
resultsC9orf72 HRE was detected in 55/960 ALS patients. C9Pos patients showed a younger onset, higher odds of bulbar onset, increased burden of UMN signs, reduced survival and higher frequency of concurrent dementia. We found an inverse correlation between the HRE length and the performance at ECAS ALS-specific tasks (P = 0.031). Patients also showed higher burden of behavioural disinhibition (P = 1.6 × 10
conclusionsOur study provides an extensive characterization of motor, cognitive and behavioural features of C9orf72-related ALS, indicating that the C9orf72 HRE size may represent a modifier of the cognitive phenotype.
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