ArticleActa neuropathologica2014
Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion.
Article in Acta neuropathologica, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- The imaging signature of C9orf72 hexanucleotide repeat expansions: implications for clinical trials and therapy development.Brain imaging and behavior · 2021Pooled it
- Review of the Pathology of Muscle in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026Review
- The global burden of motor neuron disease: a systematic and additional analysis of global burden disease study 2021.Orphanet journal of rare diseases · 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
- Predictors of Care Home Admission and Survival Rate in Patients With Syndromes Associated With Frontotemporal Lobar Degeneration in Europe.Neurology · 2024Observational
- Article
- Distribution of theFrontiers in neurology · 2024Article
- Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.Neurology and therapy · 2023Article
- Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.Nature reviews. Genetics · 2023Review
- Expanding Clinical Spectrum ofNeurology. Genetics · 2022Review
- FRONTotemporal dementia Incidence European Research Study-FRONTIERS: Rationale and design.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Review
- The Global Burden of Motor Neuron Disease: An Analysis of the 2019 Global Burden of Disease Study.Frontiers in neurology · 2022Article
- ALS/FTD: Evolution, Aging, and Cellular Metabolic Exhaustion.Frontiers in neurology · 2022Article
- Article
- Prevalence of amyotrophic lateral sclerosis in Latium region, Italy.Brain and behavior · 2021Article
- Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort.Neurology. Genetics · 2020Article
- The Genetics ofCold Spring Harbor perspectives in medicine · 2018Review
- Jump from pre-mutation to pathologic expansion in C9orf72.American journal of human genetics · 2015Article
- No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients.Journal of neural transmission (Vienna, Austria : 1996) · 2015Article
- Hexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han.PloS one · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Recent advances are uncovering more and more of the genetic architecture underlying amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative condition that affects ~6,000 Americans annually. Chief among these was the discovery that a large repeat expansion in the C9ORF72 gene is responsible for an unprecedented portion of familial and sporadic ALS cases. Much has been published on how this expansion disrupts neuronal homeostasis and how gene-based therapy might be an effective treatment in the future. Nevertheless, it is instructive to look back at the origins of this important mutation. In this opinion piece, we attempt to answer three key questions concerning C9ORF72. First, how many times did the expansion occur throughout human history? Second, how old is the expansion? And finally and perhaps most importantly, how did the expansion spread throughout Europe? We speculate that the expansion occurred only once in the past, that this event took place in the Finnish population and that the Vikings and their descendants were responsible for disseminating this mutation throughout the rest of the continent.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.