ArticleNeurology2014
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Article in Neurology, 2014. 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 101 papers, 7 of them syntheses that pooled it.
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Who cites it
101 citing papers in PubMed, 7 syntheses or guidelines pooled it, 201 citations in OpenAlex.
- Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Pooled it
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Pooled it
- Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.JAMA neurology · 2020Pooled it
- Pooled it
- Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review.Alzheimer's research & therapy · 2019Pooled it
- Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Journal of neurology · 2016Pooled it
- Wild-type C9orf72 drives proteasomal dysfunction and mutant aggregates via a Stat1-Isg15 axis in Huntington's disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions.NPJ genomic medicine · 2026Article
- ALS and Huntington Disease: Unraveling the Connections between TDP-43 and Huntingtin.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Review
- Tailoring treatments: pharmacogenomics in the management of neurodegenerative diseases.Acta neurologica Belgica · 2026Review
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Understanding the genetics and neurology: an overview of adult neurogenetics.Asian biomedicine : research, reviews and news · 2025Review
- The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.Brain communications · 2025Article
- Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.Cerebellum (London, England) · 2024Article
- The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology.Nature reviews. Neurology · 2024Review
- Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.Journal of neurology · 2024Review
- Huntington disease-like 2: insight into neurodegeneration from an African disease.Nature reviews. Neurology · 2024Review
41 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedAuthor response.2014
Authors and funding
15 authors at 1 institution in 1 country.
Funding
Abstract
objectiveIn many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Our objective was to determine whether this mutation causes HD phenocopies.
methodsA cohort of 514 HD phenocopy patients were analyzed for the C9orf72 expansion using repeat primed PCR. In cases where the expansion was found, Southern hybridization was performed to determine expansion size. Clinical case notes were reviewed to determine the phenotype of expansion-positive cases.
resultsTen subjects (1.95%) had the expansion, making it the most common identified genetic cause of HD phenocopy presentations. The size of expansion was not significantly different from that associated with other clinical presentations of C9orf72 expanded cases. The C9orf72 expansion-positive subjects were characterized by the presence of movement disorders, including dystonia, chorea, myoclonus, tremor, and rigidity. Furthermore, the age at onset in this cohort was lower than previously reported for subjects with the C9orf72 expansion and included one case with pediatric onset. DISCUSSION: This study extends the known phenotype of the C9orf72 expansion in both age at onset and movement disorder symptoms. We propose a revised clinico-genetic algorithm for the investigation of HD phenocopy patients based on these data.
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