Psychiatric Presentations of C9orf72 Mutation: What Are the Diagnostic Implications for Clinicians?
Open accessAbstract
The C9orf72 mutation was identified as the most frequent genetic cause of frontotemporal dementia (FTD). In light of multiple reports of predominant psychiatric presentations of FTD secondary to C9orf72 mutation, the American Neuropsychiatric Association Committee on Research reviewed all studies on psychiatric aspects of this mutation to identify clinically relevant features for diagnosis. The most common psychiatric presentation is psychosis (21%-56%), with delusions, and/or multimodal hallucinations. Other presentations include late-onset mania and depression with cognitive impairment or catatonia. However, the frequency of C9orf72 mutations is low in typical schizophrenia or bipolar disorders (<0.1%). The authors provide clinical guidance on diagnosis and genetic testing.
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Average diagnostic delay from symptom onset in bvFTD is up to 5-6 years.
“average diagnostic delay is up to 5-6 years from symptom onset (Woolley et al. , 2011; van Vliet et al. , 2013; Ducharme et al. , 2017).”
From Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders (2020) · cites this paper as Ducharme et al., 2017
The Clinical Implications section (page unavailable) says psychiatric symptoms can precede typical bvFTD features by up to 4–5 years, which supports the possibility of a prolonged interval after symptom onset. It does not report an average diagnostic delay of 5–6 years for bvFTD; delayed features are not the same measure as time to diagnosis. (LLM, conf=0.84)
Experimental — accuracy not yet measuredAround 50% of patients with bvFTD receive a prior psychiatric diagnosis.
“Around 50% of patients with bvFTD receive a prior psychiatric diagnosis”
From Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders (2020) · cites this paper as Ducharme et al., 2017
The Major Depressive Disorder discussion says that a psychiatric diagnosis can precede recognition of bvFTD, and Clinical Implications says psychiatric symptoms can precede typical bvFTD features. Neither passage establishes that around 50% of bvFTD patients receive a prior psychiatric diagnosis; the reported percentages concern different outcomes or populations. (LLM, conf=0.84)
Experimental — accuracy not yet measuredPatients with FTD secondary to C9orf72 mutation can present with heterogeneous neuropsychiatric phenotypes (such as late-onset psychosis or mania) without family history, sometimes several years prior to onset of more typical bvFTD features.
“patients with FTD secondary to the C9orf72 mutation can present with heterogeneous neuropsychiatric phenotypes (such as lateonset psychosis or mania) without family history, sometimes several years prior to onset of more typical bvFTD features (Ducharme et al. , 2017).”
From Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders (2020) · cites this paper as Ducharme et al., 2017
C9orf72 repeat expansion carriers can present with psychiatric symptoms and form a diagnostic challenge given their slow progressive course and atypical findings in neuroimaging.
“C9orf72 repeat expansion carriers can present with psychiatric symptoms and form a diagnostic challenge given their slow progressive course and atypical findings in neuroimaging (see 'Genetic testing' section) (Khan et al. , 2012; Solje et al. , 2015; Ducharme et al. , 2017).”
From Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders (2020) · cites this paper as Ducharme et al., 2017
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The C9ORF72 expansion sizes in patients with psychosis
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No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients
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Research works printed but not linked: 2
- Meisler MH, Grant AE, Jones JM, et al: C9ORF72 expansion in a family with bipolar disorder. Bipolar Disord 2013; 15:326-332
- Shinagawa S, Nakajima S, Plitman E, et al: Psychosis in fronto- temporal dementia. J Alzheimers Dis 2014; 42:485-499
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- Authors
- Ducharme, S., Bajestan, S., Dickerson, B. C., & Voon, V.
- Affiliations
- Montreal Neurological Institute and Hospital (CA)
- Venue
- The Journal of Neuropsychiatry and Clinical Neurosciences
- Published
- 2017-07
- Volume
- 29
- Issue
- 3
- Pages
- 195-205
- ISSN
- 0895-0172 (ISSN-L)
- 1545-7222
- OpenAlex
- W2594909988
- Cited by
- 84
- References
- 94
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 13 · 2023: 14 · 2022: 6 · 2021: 10 · 2020: 9 · 2019: 11 · 2018: 7
- FWCI
- 0.98
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Neuropsychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council (MR/P008747/1)
- 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, psychiatric presentation, psychosis, delusions, hallucinations, mania, depression, catatonia, genetic testing, differential diagnosis, schizophrenia, bipolar disorder
- MeSH terms
- C9orf72 Protein, Mental Disorders, Humans, Mutation, Societies, Medical
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