ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2015
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
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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
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Journal of neurology · 2016Pooled it
- Multi-hit genetic lesions and a stress-imprinted immune transcriptome define the inflammatory pathology in ALS patients.Research square · 2026Article
- Atypical features including acquired oculomotor apraxia inJournal of neuromuscular diseases · 2026Article
- Single-nucleus multiomic atlas of ALS primary motor cortex nominates neuroprotective WDR49-expressing astrocytes.Research square · 2026Article
- Article
- The Fault in Our Astrocytes - cause or casualties of proteinopathies of ALS/FTD and other neurodegenerative diseases?Frontiers in molecular medicine · 2023Review
- Review
- Case Report: A 72-Year-Old Woman With Progressive Motor Weakness, Dry Eyes and High Levels of Serum Neurofilament Light Chain.Frontiers in neurology · 2022Article
- Cognitive Dysfunction in Repeat Expansion Diseases: A Review.Frontiers in aging neuroscience · 2022Review
- Defective Oligodendroglial Lineage and Demyelination in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2021Review
- Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.Frontiers in neuroscience · 2020Review
- Resting State Functional Connectivity Is Decreased Globally Across theFrontiers in neurology · 2020Article
- Article
- Non-coding RNAs in Nervous System Development and Disease.Frontiers in cell and developmental biology · 2020Review
- Heterogeneous brain FDG-PET metabolic patterns in patients with C9orf72 mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Article
- TheMolecular and cellular biology · 2018Article
- Clinical Neurology and Epidemiology of the Major Neurodegenerative Diseases.Cold Spring Harbor perspectives in biology · 2018Review
- Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.Journal of Alzheimer's disease : JAD · 2018Review
- Noncoding RNAs in neurodegeneration.Nature reviews. Neuroscience · 2017Review
- Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.Journal of neurology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
The discovery that a hexanucleotide repeat expansion in C9orf72 is the most numerous genetic variant of both amyotrophic lateral sclerosis and frontotemporal dementia has opened a rapidly growing field, which may provide long hoped for advances in the understanding and treatment of these devastating diseases. In this review we describe the various phenotypes, clinical and pathological, associated with expansion of C9orf72, which go beyond amyotrophic lateral sclerosis and frontotemporal dementia to include neurodegeneration more broadly. Next we take a step back and summarize the current understanding of the C9orf72 expansion and its protein products at a molecular level. Three mechanisms are prominent: toxicity mediated directly by RNA transcribed from the repeat; toxicity mediated by dipeptide repeat proteins translated from the repeat sequence; and haploinsufficiency resulting from reduced transcription of the C9orf72 exonic sequence. A series of exciting advances have recently described how dipeptide repeat proteins might interfere with the normal role of the nucleolus in maturation of RNA binding proteins and in production of ribosomes. Importantly, these mechanisms are unlikely to be mutually exclusive. We draw attention to the fact that clinical and pathological similarities to other genetic variants without a repeat expansion must not be overlooked in ascribing a pathogenic mechanism to C9orf72-disease. Finally, with a view to impact on patient care, we discuss current practice with respect to genetic screening in patients with and without a family history of disease, and the most promising developments towards therapy that have been reported to date.
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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.