Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions
Open accessAbstract
Introduction: Frontotemporal dementia (FTD) is a common cause of early-onset dementia with a significant genetic component, as underlined by the recent identification of repeat expansions in the gene C9ORF72 as a major cause of FTD and motor neuron disease. Understanding the neurobiology and clinical phenomenology of this novel mutation is currently a major research focus. However, few data are available concerning the longitudinal evolution of this genetic disease. Here we present longitudinal neuropsychological and neuroimaging data on a cohort of patients with pathological repeat expansions in C9ORF72. Methods: Following a review of the University College London FTD DNA database, 20 cases were retrospectively identified with a C9ORF72 expansion. Twelve cases had longitudinal neuropsychology data available and six of these cases also had longitudinal volumetric brain magnetic resonance imaging. Cortical and subcortical volumes were extracted using FreeSurfer. Rates of whole brain, hemispheric, cerebellar and ventricular change were calculated for each subject. Nonlinear fluid registration of follow-up to baseline scan was performed to visualise longitudinal intra-subject patterns of brain atrophy and ventricular expansion. Results: Patients had low average verbal and performance IQ at baseline that became impaired (< 5th percentile) at follow-up. In particular, visual memory, naming and dominant parietal skills all showed deterioration. Mean rates of whole brain atrophy (1.4%/year) and ventricular expansion (3.2 ml/year) were substantially greater in patients with the C9ORF72 mutation than in healthy controls; atrophy was symmetrical between the cerebral hemispheres within the C9ORF72 mutation group. The thalamus and cerebellum showed significant atrophy whereas no cortical areas were preferentially affected. Longitudinal fluid imaging in individual patients demonstrated heterogeneous patterns of progressive volume loss; however, ventricular expansion and cerebellar volume loss were consistent findings. Conclusion: Disease evolution in C9ORF72-associated FTD is linked neuropsychologically with increasing involvement of parietal and amnestic functions, and neuroanatomically with rather diffuse and variable cortical and central atrophy but more consistent involvement of the cerebellum and thalamus. These longitudinal profiles are consistent with disease spread within a distributed subcortical network and demonstrate the feasibility of longitudinal biomarkers for tracking the evolution of the C9ORF72 mutation phenotype.
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Antibodies specific for each DPR stain SQSTM1-positive inclusions, suggesting that DPRs are targeted for clearance by the UPS and/or autophagy.
“Antibodies specific for each dipeptide repeat (DPR) also stain SQSTM1-positive inclusions, including the star-like inclusions unique to C9orf72-related disease, suggesting that DPRs are targeted for clearance by the UPS and/or autophagy [119,169–171] (Figure 1).”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [170]
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- Authors
- Mahoney, C. J., Downey, L. E., Ridgway, G. R., Beck, J., Clegg, S., Blair, M., Finnegan, S., Leung, K. K., Yeatman, T., Golden, H., Mead, S., Rohrer, J. D., Fox, N. C., & Warren, J. D.
- Affiliations
- UCL Queen Square Institute of Neurology (GB)
- Wellcome Centre for Human Neuroimaging (GB)
- MRC Prion Unit (GB)
- Corresponding author
- Warren, Jason D
- ORCID
- Venue
- Alzheimer's Research & Therapy
- Published
- 2012-09-24
- Volume
- 4
- Issue
- 5
- Pages
- 41-41
- ISSN
- 1758-9193 (ISSN-L)
- PMC
- PMC3580398
- OpenAlex
- W2146088791
- Cited by
- 114
- References
- 39
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 13 · 2023: 4 · 2022: 12 · 2021: 11 · 2020: 8 · 2019: 7 · 2018: 6 · 2017: 7 · 2016: 6 · 2015: 14 · 2014: 13 · 2013: 8
- FWCI
- 7.32
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Alzheimer s Research & Therapy (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust (091673, 091673/Z/10/Z)
- National Institute for Health and Care Research (NF-SI-0508-10123)
- University College London
- Medical Research Council (091673)
- 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
- frontotemporal dementia, C9orf72 repeat expansion, brain atrophy, ventriculomegaly, cerebellar atrophy, thalamic atrophy, longitudinal neuroimaging, neuropsychological decline, visual memory impairment, naming impairment, disease progression, longitudinal biomarkers, subcortical network
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