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Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture
Open accessAbstract
Objective: To determine the prevalence of autoimmune disease in symptomatic C9ORF72 (C9) mutation carriers and frontotemporal dementia with motor neuron disease (FTD/MND) cohorts. Methods: In this case-control study, we reviewed the clinical histories of 66 patients with FTD/MND and 57 symptomatic C9 carriers (24 overlapping cases), a total of 99 charts, for history of autoimmune disease. The prevalence of autoimmune disease in C9 and FTD/MND cohorts was determined by χ2 and Fisher exact comparisons between the combined C9 and FTD/MND group with normal control, Alzheimer disease, and progressive supranuclear palsy cohorts, as well as comparisons within C9 and FTD/MND cohorts. Results: Our combined C9 and FTD/MND cohort has a 12% prevalence of nonthyroid autoimmune disease. The prevalence of nonthyroid autoimmune disease in C9 and FTD/MND is similar to the rates in previously detailed progranulin and semantic variant primary progressive aphasia cohorts and elevated in comparison to previously collected normal control and typical Alzheimer disease cohorts, as well as a newly screened progressive supranuclear palsy cohort. Furthermore, the types of autoimmune disease in this combined C9 and FTD/MND cohort cluster within the same 3 categories previously described in progranulin and semantic variant primary progressive aphasia: inflammatory arthritides, cutaneous conditions, and gastrointestinal disorders. Conclusions: The association between selective autoimmune disease and neurodegenerative disorders unified by the underlying pathology frontotemporal lobar degeneration with TDP-43–positive inclusions (FTLD-TDP) extends to C9 and FTD/MND cohorts, providing further evidence that select autoimmune inflammation may be intrinsically linked to FTLD-TDP pathophysiology.
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“We are also limited in the inferences about the predilection for immune dysregulation in a particular neuropathological subtype, such as the relationship suggested between immune dysfunction and FTLD-TDP-43 (Miller et al., 2013, 2016), except for the cases with genetic mutations.”
From Neuroinflammation and protein aggregation co-localize across the frontotemporal dementia spectrum (2020) · cites this paper as Miller et al., 2016
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References 40 · Cited by 100
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Metadata
- Authors
- Miller, Z. A., Sturm, V. E., Camsari, G. B., Karydas, A., Yokoyama, J. S., Grinberg, L. T., Boxer, A. L., Rosen, H. J., Rankin, K. P., Gorno-Tempini, M. L., Coppola, G., Geschwind, D. H., Rademakers, R., Seeley, W. W., Graff-Radford, N. R., & Miller, B. L.
- Affiliations
- Mayo Clinic (US)
- From the Memory and Aging Center (Z.A.M., V.E.S., A.K., J.S.Y., L.T.G., A.L.B., H.J.R., K.P.R., M.L.G.-T., W.W.S., B.L.M.) and Department of Pathology (L.T.G., W.W.S.), University of California, San Francisco; Departments of Neurology (G.B.C., N.R.G.-R.) and Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (G.C., D.H.G.), David Geffen School of Medicine, University of California, Los Angeles, CA.
- Corresponding author
- Miller, Zachary A.
- ORCID
- Venue
- Neurology Neuroimmunology & Neuroinflammation
- Published
- 2016-12
- Volume
- 3
- Issue
- 6
- Pages
- e301-e301
- ISSN
- 2332-7812 (ISSN-L)
- PMC
- PMC5087253
- OpenAlex
- W2540127583
- Cited by
- 100
- References
- 40
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 10 · 2023: 8 · 2022: 15 · 2021: 17 · 2020: 13 · 2019: 10 · 2018: 12 · 2017: 2 · 2016: 2
- FWCI
- 6.52
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc-nd
- Locations
- Neurology Neuroimmunology & Neuroinflammation (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Larry L. Hillblom Foundation (2007/2I, #2002/2J, P50 AG023501, P01 AG019724)
- Eli Lilly and Company
- Pfizer
- Biogen
- Fidelity Foundation
- CHDI Foundation
- Dr. Miriam and Sheldon G. Adelson Medical Research Foundation
- ALS Therapy Alliance
- Quest Diagnostics
- TauRx Pharmaceuticals
- University of Oxford
- National Institutes of Health (AG023501, AG019724, AG16574, 2002/2J)
- Genentech
- Fidelity Biosciences
- University of California, San Francisco (2007/2I, AG019724, P50 AG023501, P01AG019724)
- Avid Radiopharmaceuticals
- Houston Methodist Research Institute
- National Institute on Aging (P50‐AG16574, AG 16574, K23AG048291, AG023501, R01AG032306, AG019724, K24AG045333, R01AG038791, P01AG019724, P50AG023501, P50AG016574)
- National Institute of Mental Health
- National Institute on Deafness and Other Communication Disorders (K24DC015544)
- National Institute of Neurological Disorders and Stroke (U54NS092089)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- autoimmune disease, FTLD-TDP, frontotemporal lobar degeneration, inflammatory arthritis, progranulin, semantic dementia
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- Miller, Z. A., Sturm, V. E., Camsari, G. B., Karydas, A., Yokoyama, J. S., Grinberg, L. T., Boxer, A. L., Rosen, H. J., Rankin, K. P., Gorno-Tempini, M. L., Coppola, G., Geschwind, D. H., Rademakers, R., Seeley, W. W., Graff-Radford, N. R., & Miller, B. L. (2016). Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture. Neurology Neuroimmunology & Neuroinflammation. https://doi.org/10.1212/nxi.0000000000000301
