Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
Open accessAbstract
The identification of a hexanucleotide repeat expansion in the C9ORF72 gene as the cause of chromosome 9-linked frontotemporal dementia and motor neuron disease offers the opportunity for greater understanding of the relationship between these disorders and other clinical forms of frontotemporal lobar degeneration. In this study, we screened a cohort of 398 patients with frontotemporal dementia, progressive non-fluent aphasia, semantic dementia or mixture of these syndromes for mutations in the C9ORF72 gene. Motor neuron disease was present in 55 patients (14%). We identified 32 patients with C9ORF72 mutations, representing 8% of the cohort. The patients' clinical phenotype at presentation varied: nine patients had frontotemporal dementia with motor neuron disease, 19 had frontotemporal dementia alone, one had mixed semantic dementia with frontal features and three had progressive non-fluent aphasia. There was, as expected, a significant association between C9ORF72 mutations and presence of motor neuron disease. Nevertheless, 46 patients, including 22 familial, had motor neuron disease but no mutation in C9ORF72. Thirty-eight per cent of the patients with C9ORF72 mutations presented with psychosis, with a further 28% exhibiting paranoid, deluded or irrational thinking, whereas <4% of non-mutation bearers presented similarly. The presence of psychosis dramatically increased the odds that patients carried the mutation. Mutation bearers showed a low incidence of motor stereotypies, and relatively high incidence of complex repetitive behaviours, largely linked to patients' delusions. They also showed a lower incidence of acquired sweet food preference than patients without C9ORF72 mutations. Post-mortem pathology in five patients revealed transactive response DNA-binding protein 43 pathology, type A in one patient and type B in three. However, one patient had corticobasal degeneration pathology. The findings indicate that C9ORF72 mutations cause some but not all cases of frontotemporal dementia with motor neuron disease. Other mutations remain to be discovered. C9ORF72 mutations are associated with variable clinical presentations and pathology. Nevertheless, the findings highlight a powerful association between C9ORF72 mutations and psychosis and suggest that the behavioural characteristics of patients with C9ORF72 mutations are qualitatively distinct. Mutations in the C9ORF72 gene may be a major cause not only of frontotemporal dementia with motor neuron disease but also of late onset psychosis.
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In genetic cases of bvFTD, parkinsonism is relatively frequent.
“In genetic cases of bvFTD, parkinsonism is relatively frequent (Snowden et al. , 2012; Siuda et al. , 2014).”
From Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders (2020) · cites this paper as Snowden et al., 2012
The Neurological signs and neuroimaging findings section reports mild limb rigidity in eight of 32 C9ORF72 mutation carriers, and Table 2 records parkinsonism in some carriers. This supports its occurrence in a genetic form of FTD, but the study does not establish that parkinsonism is relatively frequent across genetic cases of bvFTD generally or compared with non-genetic cases. (LLM, conf=0.83)
Experimental — accuracy not yet measuredNeuropsychiatric presentations have been seen in frontotemporal dementia syndromes and are reported more commonly in people with C9orf72 expansions.
“Neuropsychiatric presentations have been seen in frontotemporal dementia syndromes, and are reported more commonly in people with C9orf72 expansions.8”
From Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations (2022) · cites this paper as [8]
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- Authors
- Snowden, J. S., Rollinson, S., Thompson, J. C., Harris, J. M., Stopford, C. L., Richardson, A. M. T., Jones, M., Gerhard, A., Davidson, Y. S., Robinson, A., Gibbons, L., Hu, Q., DuPlessis, D., Neary, D., Mann, D. M. A., & Pickering-Brown, S. M.
- Affiliations
- Salford Royal NHS Foundation Trust (GB)
- University of Manchester (GB)
- ORCID
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2012-02-02
- Volume
- 135
- Issue
- 3
- Pages
- 693-708
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC3286329
- OpenAlex
- W2137404280
- Cited by
- 523
- References
- 72
- Citations by year
- 2026: 2 · 2025: 15 · 2024: 15 · 2023: 27 · 2022: 22 · 2021: 32 · 2020: 21 · 2019: 27 · 2018: 35 · 2017: 41 · 2016: 43 · 2015: 51 · 2014: 63 · 2013: 81 · 2012: 46
- FWCI
- 50.39
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion, other-oa)
- Funders
- Wellcome Trust (089701)
- Alzheimer's Society
- Higher Education Discipline Innovation Project
- Medical Research Council
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- C9orf72 mutation, frontotemporal dementia, hexanucleotide repeat expansion, psychosis, delusions, behavioural symptoms, TDP-43 pathology, corticobasal degeneration, progressive nonfluent aphasia, semantic dementia, motor neuron disease, motor stereotypies
- MeSH terms
- C9orf72 Protein, Adult, Aged, Autopsy, Behavior, Brain, Cerebellum, Cognition Disorders, Demography, DNA, DNA-Binding Proteins, Female, Humans, Image Processing, Computer-Assisted, Immunohistochemistry, Magnetic Resonance Imaging, Male, Medulla Oblongata, Middle Aged, Mutation, Neuropsychological Tests, Proteins, Psychotic Disorders, Spinal Cord, Cohort Studies, Motor Neuron Disease, Age of Onset, Frontotemporal Dementia
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