Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
Abstract
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21‐linked frontotemporal dementia‐amyotrophic lateral sclerosis (FTD‐ALS). We here report the prevalence of the expansion in a hospital‐based cohort and associated clinical features indicating a wider clinical spectrum of C9ORF72 disease than previously described. We studied 280 patients previously screened for mutations in genes involved in early onset autosomal dominant inherited dementia disorders. A repeat‐primed polymerase chain reaction amplification assay was used to identify pathogenic GGGGCC expansions. As a potential modifier, confirmed cases were further investigated for abnormal CAG expansions in ATXN2. A pathogenic GGGGCC expansion was identified in a total of 14 probands. Three of these presented with atypical clinical features and were previously diagnosed with clinical olivopontocerebellar degeneration (OPCD), atypical Parkinsonian syndrome (APS) and a corticobasal syndrome (CBS). Further, the pathogenic expansion was identified in six FTD patients, four patients with FTD‐ALS and one ALS patient. All confirmed cases had normal ATXN2 repeat sizes. Our study widens the clinical spectrum of C9ORF72 related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD‐ALS disorders. There was no indication of a modifying effect of the ATXN2 gene.
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C9orf72 expansion mutations are associated with ALS/FTLD and also with symptoms reminiscent of Parkinson disease, Alzheimer disease, Huntington disease, and corticobasal syndrome.
“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 [161]
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- Authors
- Lindquist, S., Duno, M., Batbayli, M., Puschmann, A., Braendgaard, H., Mardosiene, S., Svenstrup, K., Pinborg, L., Vestergaard, K., Hjermind, L., Stokholm, J., Andersen, B., Johannsen, P., & Nielsen, J.
- Affiliations
- Department of Clinical Genetics 4062, Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark
- Copenhagen University Hospital (DK)
- Skåne University Hospital (SE)
- Department of Neurology Aarhus Sygehus, Aarhus University Hospital Aarhus Denmark
- Bispebjerg Hospital (DK)
- University of Copenhagen (DK)
- Neurobiology Research Unit, Department of Neurology Rigshospitalet, Copenhagen University Hospital Copenhagen Denmark
- Aalborg University Hospital (DK)
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2013-03
- Volume
- 83
- Issue
- 3
- Pages
- 279-283
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W1763842383
- Cited by
- 143
- References
- 15
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 3 · 2023: 5 · 2022: 7 · 2021: 13 · 2020: 4 · 2019: 9 · 2018: 6 · 2017: 9 · 2016: 15 · 2015: 18 · 2014: 18 · 2013: 23 · 2012: 6
- FWCI
- 13.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- VBN Forskningsportal (Aalborg Universitet) (submittedVersion)
- Funders
- Novo Nordisk Fonden (NNF11OC1014514)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- C9orf72, GGGGCC repeat expansion, hexanucleotide repeat expansion, frontotemporal dementia, amyotrophic lateral sclerosis, corticobasal syndrome, ataxia, olivopontocerebellar degeneration, atypical parkinsonism, ATXN2, CAG repeat expansion, clinical spectrum, chromosome 9p21
- MeSH terms
- C9orf72 Protein, Adult, Aged, Amyotrophic Lateral Sclerosis, Ataxia, Base Sequence, Family Health, Female, Genetic Testing, Humans, Male, Middle Aged, Proteins, Syndrome, Cohort Studies, Genetic Predisposition to Disease, DNA Repeat Expansion, Frontotemporal Dementia
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