ReviewMovement disorders clinical practice
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.
Review in Movement disorders clinical practice. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Pooled it
- Trial
- Association between C9orf72 G4C2 repeat length and idiopathic Parkinson's disease in a Turkish cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Co- and Multi-Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Reversible Dropped Head Syndrome Due to Olanzapine-Associated Cervical Dystonia in a Patient With C9orf72-Associated bvFTD Within the FTD-ALS Spectrum.Journal of movement disorders · 2026Article
- Teaching Video NeuroImage:Neurology · 2026Article
- Cortical microstructure in familial frontotemporal dementia associated with MAPT, GRN, and C9orf72 pathogenic variants: Looking beyond atrophy.The journal of prevention of Alzheimer's disease · 2025Article
- Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease:International journal of molecular sciences · 2025Article
- Frontotemporal Lobar degeneration with TDP-43 presenting as progressive supranuclear palsy syndrome.Acta neuropathologica communications · 2025Article
- Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.Biomedicines · 2025Review
- Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.International journal of molecular sciences · 2025Article
- The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.Brain communications · 2025Article
- Family History in Parkinson's Disease: A National Cross-Sectional Study.Movement disorders clinical practice · 2024Article
- Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.Journal of neurology · 2024Article
- The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology.Nature reviews. Neurology · 2024Review
- Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts.Brain : a journal of neurology · 2023Article
- Multiple system atrophy.Practical neurology · 2023Review
- Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.Journal of neurology · 2023Article
- Random forest modelling demonstrates microglial and protein misfolding features to be key phenotypic markers in C9orf72-ALS.The Journal of pathology · 2022Article
- The Essential Role of Epigenetic Modifications in Neurodegenerative Diseases with Dyskinesia.Cellular and molecular neurobiology · 2022Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe C9orf72 hexanucleotide expansion is one of the latest discovered repeat expansion disorders related to neurodegeneration. Its association with the FTD/ALS spectrum disorders is well established, and it is considered to be one of the leading related genes. It has also been reported as a possible cause of several other phenotypes, including parkinsonism and other movement disorders. Its significance, though outside the FTD/ALS spectrum, is not well defined.
methodsA comprehensive search of the literature was performed. All relevant papers, including reviews and case series/reports on movement disorder phenotypes reported with the C9orf72 repeat expansion, were reviewed. Data on frequency, natural history, phenotype, genetics, and possible underlying mechanisms were assessed. RESULTS AND DISCUSSION: In a number of studies, C9orf72 accounts for a small fraction of typical PD. Atypical parkinsonian syndromes, including CBS, PSP, and MSA have also been reported. Features that increase the probability of positive testing include early cognitive and/or behavioral symptoms, positive family history of ALS or FTD, and the presence of UMN and LMN signs. Furthermore, several studies conclude that C9orf72 is the most common cause of HD-phenocopies. Interestingly, many cases with the parkinsonian phenotype that bear an intermediate range of repeats are also reported, questioning the direct causal role of C9orf72 and suggesting the possibility of being a susceptibility factor, while the presence of the expansion in normal controls questions its clinical significance. Finally, studies on pathology reveal a distinctive broad range of C9orf72-related neurodegeneration that could explain the wide phenotypic variation.
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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.