SynthesisJournal of neurology2016
Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.
Synthesis in Journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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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
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.JAMA neurology · 2020Pooled it
- Pooled it
- Design considerations for C9orf72 disease prevention trials.Brain : a journal of neurology · 2025Review
- ALS-plus related clinical and genetic study from China.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Young Onset Alzheimer's Disease Associated withGenes · 2023Article
- Sensory Involvement in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2022Review
- Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.Annals of neurosciences · 2022Review
- C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies.Frontiers in aging neuroscience · 2022Review
- The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.International journal of molecular sciences · 2021Review
- Unravelling the clinical spectrum and the role of repeat length inJournal of neurology, neurosurgery, and psychiatry · 2021Review
- Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease.European journal of neurology · 2021Article
- ModelingFrontiers in cellular neuroscience · 2021Review
- Genetics of Progressive Supranuclear Palsy: A Review.Journal of Parkinson's disease · 2021Review
- RNA-binding proteins in neurodegeneration: mechanisms in aggregate.Genes & development · 2017Review
- [Genetic architecture of amyotrophic lateral sclerosis and frontotemporal dementia : Overlap and differences].Der Nervenarzt · 2017Review
- DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Frontiers in molecular biosciences · 2017Review
- Diagnosing the frontal variant of Alzheimer's disease: a clinician's yellow brick road.Journal of clinical movement disorders · 2017Review
- From animal models to human disease: a genetic approach for personalized medicine in ALS.Acta neuropathologica communications · 2016Review
- Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.The EMBO journal · 2016Article
- C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.Movement disorders clinical practiceReview
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While C9orf72 repeat expansions usually present with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS), an increasing number of reports suggests that the primary phenotype of C9orf72 patients may also include movement disorders. We here provide the first systematic clinical characterisation of C9orf72-associated parkinsonism. We report a C9orf72 expansion carrier presenting with a clinical syndrome of progressive supranuclear palsy (PSP), pronounced mesencephalic atrophy on MRI and PSP-characteristic electrooculography findings. Moreover, we systematically review all previous reports on C9orf72 patients with parkinsonian features. Review of 28 reports revealed 45 C9orf72-positive patients with hypokinesia, rigidity and/or resting tremor. C9orf72-associated parkinsonism predominantly consisted in a hypokinetic-rigid syndrome without resting tremor (61%), with both asymmetric (59%) and symmetric (41%) distributions. Additional features included upper motor neuron signs (60%), lower motor neuron signs (36%), cognitive dysfunction (85%), behaviour and/or personality change (55%) and psychiatric symptoms (29%). Vertical supranuclear gaze palsy was reported in three further cases and cerebellar dysfunction in four cases. Family history frequently yielded evidence of ALS (31%) and FTD (21%). Atypical parkinsonism is a recurrent phenotypic manifestation of C9orf72 expansions. It occurs as part of a broad spectrum of C9orf72-related multi-system neurodegeneration, which can include basal ganglia, mesencephalic and cerebellar dysfunction. C9orf72 genotyping should be considered in those patients with atypical parkinsonism who present with a family history of ALS or FTD, upper or lower motor neuron signs and/or cognitive dysfunction with pronounced frontotemporal impairment.
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