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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Open accessAbstract
OBJECTIVE: In 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. METHODS: A 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. RESULTS: Ten 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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“For instance, C9orf72 expansion mutations are associated not only with ALS/FTLD, but also with symptoms reminiscent of Parkinson disease, Alzheimer disease, Huntington disease, and corticobasal syndrome, reinforcing the imperfect connection between clinical and molecular phenotypes and emphasizing the need for molecular diagnostics [155–164].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [164]
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“Repeat expansions in C9orf72 can generate ALS phenotypes, familial FTD, movement disorders (Huntingtonlike disease), a young age at onset or even symptom-free patients (8,9,10).”
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“A small percentage of patients presents with clinical features consistent with HD but with negative CAG repeats; these cases, known as HD phenocopies, most frequently possess hexanucleotide repeat expansions in the C9orf72 gene [30].”
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“…as in 20%–30% of familial and 5% of sporadic ALS cases (Majounie et al., 2012a; Marogianni et al., 2019) and have also been reported in various other neurodegenerative disorders (Schottlaender et al., 2015; Lindquist et al., 2013; Snowden et al., 2012a; Shu et al., 2016; Hensman Moss et al., 2014).”
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“The prevalence of C9orf72-related HD phenocopies should be further assessed as in the initial case series, only three of the 10 cases reported had chorea in their presentation.(4) An autosomal recessive inheritance pattern is compatible with choreaacanthocytosis and aceruloplasminemia.”
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“…features and ALS has been observed more frequently within the spectrum of ALS due to C9ORF72 expansion, combined with dementia (Origone et al., 2013), cerebellar abnormalities, autonomic dysfunction, and Huntington’s disease (Hensman Moss et al., 2014) or TARDBP mutation (Chiò et al., 2011).”
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Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia
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Beyond Huntington’s Disease – Late-Onset Chorea Caused by a Homozygous Variant in ERCC4
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“In fact, C9orf72 expansions are among the most frequent causes of HD phenocopy presentations [3].”
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“A recent report found C9orf72 expansions in approximately 2% (10 of 514) of HD phenocopies, including 1 patient with a pure movement disorder.(4) Given the evidence suggesting that C9orf72 expansions have importance in movement disorders, we analyzed a Japanese cohort of idiopathic dystonia patients for C9orf72 expans…”
BackgroundCase Studies in Movement Disorders: Common and Uncommon Presentations
Bhatia, K. P., Erro, R., & Stamelou, M. (2017) · Cited by 2
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Leitlinien „Chorea/Morbus Huntington“ für die deutschsprachigen Länder neu überarbeitet
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“Hereditäre neurologische Grunderkrankungen ▪ Huntington-Erkrankung ▪ C9orf72-Mutation (frontotemporal betonte Demenz, Moto- neuron-Erkrankung und Bewegungsstörungen, wahrscheinlich häufige Phänokopie; [17]) ▪ Spinozerebelläre Ataxie 17 (entspricht Huntington’s diseaselike 4; [18]) ▪ Spinozerebelläre Ataxie Typ 3, 2, 1…”
BackgroundHuntington's Disease and Other Choreas
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“…a relationship between Antonio P.’s chorea and HD, all that remains is to consider diseases that can manifest themselves as phenocopies of HD (Hensmann Ross et al. 2014) and, moving from the historical logic underlying the hypothesis of a dominant disease, also to consider the possibility…”
Metadata
- Authors
- Hensman Moss, D. J., Poulter, M., Beck, J., Hehir, J., Polke, J. M., Campbell, T., Adamson, G., Mudanohwo, E., McColgan, P., Haworth, A., Wild, E. J., Sweeney, M. G., Houlden, H., Mead, S., & Tabrizi, S. J.
- Affiliations
- From the Departments of Neurodegenerative Disease (D.J.H.M., P.M., E.J.W., S.M., S.J.T.) and Molecular Neuroscience (H.H.), UCL Institute of Neurology, London; MRC Prion Unit (M.P., J.B., T.C., G.A.), London; and Neurogenetics Unit (J.H., J.M.P., E.M., A.H., M.G.S., H.H.), National Hospital for Neurology and Neurosurgery, University College London Hospitals, UK.
- MRC Prion Unit (GB)
- ORCID
- Venue
- Neurology
- Published
- 2014-01-28
- Volume
- 82
- Issue
- 4
- Pages
- 292-299
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC3929197
- OpenAlex
- W2159280728
- Cited by
- 203
- References
- 37
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 12 · 2023: 9 · 2022: 13 · 2021: 13 · 2020: 19 · 2019: 10 · 2018: 27 · 2017: 16 · 2016: 29 · 2015: 23 · 2014: 17
- FWCI
- 11.45
- Type
- journal article
- Language
- en
- Update notices
- correction (2014-05-13)
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- CHDI Foundation
- National Institute for Health and Care Research (ACF-2009-18-016, CL-2009-18-005)
- Academy of Medical Sciences (AMS-SGCL6-Wild)
- University College London
- University College London Hospitals NHS Foundation Trust
- Medical Research Council (MR/J004758/1, MR/L02053X/1, EU FP7)
- Biotechnology and Biological Sciences Research Council
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- C9orf72, repeat expansion, genetic testing, movement disorders, dystonia, chorea, myoclonus, tremor, rigidity, age of onset, pediatric onset, frontotemporal lobar degeneration, amyotrophic lateral sclerosis
- MeSH terms
- C9orf72 Protein, Adolescent, Adult, Child, Cognition Disorders, DNA Mutational Analysis, Female, Humans, Huntington Disease, Magnetic Resonance Imaging, Male, Mental Status Schedule, Middle Aged, Phenotype, Proteins, Severity of Illness Index, Cohort Studies, Age of Onset, DNA Repeat Expansion, Young Adult
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