CoChat
Sign Up
Cited by 170Amyotrophic Lateral Sclerosis ResearchDementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

TDP-43 frontotemporal lobar degeneration and autoimmune disease

Open access
Miller, Z. A., Rankin, K. P., Graff-Radford, N. R., Takada, L. T., Sturm, V. E., Cleveland, C. M., Criswell, L. A., Jaeger, P. A. +16 more·2013·Journal of Neurology, Neurosurgery & Psychiatry
DOI 10.1136/jnnp-2012-304644PMC PMC3840954
Open this paper in CoChat — free account

Abstract

BACKGROUND: The aetiology and pathogenesis of non-genetic forms of frontotemporal dementia (FTD) is unknown and even with the genetic forms of FTD, pathogenesis remains elusive. Given the association between systemic inflammation and other neurodegenerative processes, links between autoimmunity and FTD need to be explored. OBJECTIVE: To describe the prevalence of systemic autoimmune disease in semantic variant primary progressive aphasia (svPPA), a clinical cohort, and in progranulin (PGRN) mutation carriers compared with neurologically healthy normal controls (NC) and Alzheimer's disease (AD) as dementia controls. DESIGN: Case control. SETTING: Academic medical centres. PARTICIPANTS: 129 svPPA, 39 PGRN, 186 NC and 158 AD patients underwent chart review for autoimmune conditions. A large subset of svPPA, PGRN and NC cohorts underwent serum analysis for tumour necrosis factor α (TNF-α) levels. OUTCOME MEASURES: χ(2) Comparison of autoimmune prevalence and follow-up logistic regression. RESULTS: There was a significantly increased risk of autoimmune disorders clustered around inflammatory arthritides, cutaneous disorders and gastrointestinal conditions in the svPPA and PGRN cohorts. Elevated TNF-α levels were observed in svPPA and PGRN compared with NC. CONCLUSIONS: svPPA and PGRN are associated with increased prevalence of specific and related autoimmune diseases compared with NC and AD. These findings suggest a unique pattern of systemic inflammation in svPPA and PGRN and open new research avenues for understanding and treating disorders associated with underlying transactive response DNA-binding protein 43 aggregation.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1136/jnnp-2012-304644

Cites

4 of 4 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • The study is limited in inferences about the predilection for immune dysregulation in a particular neuropathological subtype, such as the relationship suggested between immune dysfunction and FTLD-TDP-43, except for cases with genetic mutations.

    “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., 2013

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 37

  1. [1]McGeer PL McGeer EG NSAIDs and Alzheimer disease: Epidemiological, animal model and clinical studies Neurobiol Aging 2007 5 28 5 639 647 16697488
  2. [2]Rosso S Landweer E Houterman M Medical and environmental risk factors for sporadic frontotemporal dementia: a retrospective case–control study Journal of Neurology, Neurosurgery & Psychiatry 2003 74 11 1574 1576 PMC1738250 14617722
  3. [3]Sjögren M Folkesson S Blennow K Increased intrathecal inflammatory activity in frontotemporal dementia: pathophysiological implications Journal of Neurology, Neurosurgery & Psychiatry 2004 75 8 1107 1111 PMC1739153 15258209
  4. [4]Hodges JR Mitchell J Dawson K Semantic dementia: demography, familial factors and survival in a consecutive series of 100 cases Brain 2010 133 1 300 306 19805492
  5. [5]Snowden J Neary D Mann D Frontotemporal lobar degeneration: clinical and pathological relationships Acta Neuropathol 2007 114 1 31 38 17569065
  6. [6]Goldman J Farmer J Wood E Comparison of family histories in FTLD subtypes and related tauopathies Neurology 2005 65 11 1817 16344531
  7. [7]Tang W Lu Y Tian QY The Growth Factor Progranulin Binds to TNF Receptors and Is Therapeutic Against Inflammatory Arthritis in Mice Science 2011 332 6028 478 21393509 PMC3104397
  8. [8]Thurner L Preuss KD Fadle N Progranulin antibodies in autoimmune diseases J Autoimmun 2012 11 10 pii: S0896–8411(12)00130 23149338
  9. [10]Mackay IR Clustering and commonalities among autoimmune diseases J Autoimmun 2009 33 3–4 170 177 19837564
  10. [11]Baranzini SE The genetics of autoimmune diseases: a networked perspective Curr Opin Immunol 2009 21 6 596 605 19896815
  11. [12]Richard-Miceli C Criswell LA Emerging patterns of genetic overlap across autoimmune disorders Genome Medicine 2012 4 1 1 9 22284131 PMC3334554
  12. [13]Gorno-Tempini M Hillis A Weintraub S Classification of primary progressive aphasia and its variants Neurology 2011 76 11 1006 1014 21325651 PMC3059138
  13. [14]Blacker D Albert MS Bassett SS Reliability and Validity of NINCDS-ADRDA Criteria for Alzheimer’s Disease: The National Institute of Mental Health Genetics Initiative Arch Neurol 1994 51 12 1198 1204 7986174
  14. [15]Rugbjerg K Friis S Ritz B Autoimmune disease and risk for Parkinson disease: A population-based case-control study Neurology 2009 73 18 1462 19776374 PMC2779008
  15. [17]Fine KD Do K Schulte K High prevalence of celiac sprue-like HLA-DQ genes and enteropathy in patients with the microscopic colitis syndrome Am J Gastroenterol 2000 95 8 1974 1982 10950045
  16. [18]Powell J Wojnarowska F Lichen sclerosus The Lancet 1999 353 9166 1777 1783 10348006
  17. [19]Bagchi N Brown TR Parish RF Thyroid dysfunction in adults over age 55 years: a study in an urban US community Arch Intern Med 1990 150 4 785 2109585
  18. [20]Sawin CT Castelli WP Hershman JM The aging thyroid: thyroid deficiency in the Framingham Study Arch Intern Med 1985 145 8 1386 4026469
  19. [21]Gelfand JM Weinstein R Porter SB Prevalence and treatment of psoriasis in the United Kingdom: a population-based study Arch Dermatol 2005 141 12 1537 16365254
  20. [22]Helmick CG Felson DT Lawrence RC Estimates of the prevalence of arthritis and other rheumatic conditions in the United States: Part I Arthritis & Rheumatism 2008 58 1 15 25 18163481
  21. [23]Rasch EK Hirsch R Paulose-Ram R Prevalence of rheumatoid arthritis in persons 60 years of age and older in the United States: effect of different methods of case classification Arthritis & Rheumatism 2003 48 4 917 926 12687533
  22. [24]Incidence of physician-diagnosed primary Sjögren syndrome in residents of Olmsted County, Minnesota Mayo Clinic Proceedings: Mayo Clinic 2001 11393497
  23. [25]Statement on Sarcoidosis Joint Statement of the American Thoracic Society (ATS), the European Respiratory Society (ERS) and the World Association of Sarcoidosis and Other Granulomatous Disorders (WASOG) adopted by the ATS Board of Directors and by the ERS Executive Committee, February 1999 Am J Respir Crit Care Med 1999 160 736 755 10430755
  24. [26]Howitz J Brodthagen H Schwartz M Prevalence of vitiligo: epidemiological survey on the Isle of Bornholm, Denmark Arch Dermatol 1977 113 1 47 831622
  25. [27]Farrell RJ Kelly CP Celiac Sprue N Engl J Med 2002 1 17 346 3 180 188 11796853
  26. [28]Pardi DS Loftus EV Smyrk TC The epidemiology of microscopic colitis: a population based study in Olmsted County, Minnesota Gut 2007 56 4 504 17135309 PMC1856874
  27. [29]Kyriakis K Michailides C Palamaras I Lifetime prevalence distribution of chronic discoid lupus erythematosus Journal of the European Academy of Dermatology and Venereology 2007 21 8 1108 1109 17714136
  28. [30]Sirota M Schaub MA Batzoglou S Autoimmune disease classification by inverse association with SNP alleles PLoS genetics 2009 5 12 e1000792 20041220 PMC2791168
  29. [31]Musone SL Taylor KE Nititham J Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases Genes Immun 2011 12 3 176 182 21326317 PMC3152744
  30. [32]Manoussakis MN Georgopoulou C Zintzaras E Sjögren’s syndrome associated with systemic lupus erythematosus: clinical and laboratory profiles and comparison with primary Sjögren’s syndrome Arthritis & Rheumatism 2004 50 3 882 891 15022331
  31. [33]Torralba KD Quismorio FP Jr Sarcoidosis and the rheumatologist Curr Opin Rheumatol 2009 21 1 62 19093325
  32. [34]Chow S Rizzo C Ravitskiy L The role of T cells in cutaneous autoimmune disease Autoimmunity 2005 38 4 303 317 16206513
  33. [35]Flier J Boorsma DM van Beek PJ Differential expression of CXCR3 targeting chemokines CXCL10, CXCL9, and CXCL11 in different types of skin inflammation J Pathol 2001 194 4 398 405 11523046
  34. Mackenzie IRA Neumann M Baborie A A harmonized classification system for FTLD-TDP pathology Acta Neuropathol 2011 1 3 PMC3285143 21644037
  35. [38]Chen-Plotkin AS Lee VMY Trojanowski JQ TAR DNA-binding protein 43 in neurodegenerative disease Nature Reviews Neurology 2010 6 4 211 220 PMC2892118 20234357
  36. [39]Weintraub S Fahey C Johnson N Vasectomy in men with primary progressive aphasia Cognitive and Behavioral Neurology 2006 19 4 190 17159614
  37. [40]Decker DA Heilman KM Steroid treatment of primary progressive aphasia Arch Neurol 2008 65 11 1533 19001174

Cited by

Sorted by citations

Authors
Miller, Z. A., Rankin, K. P., Graff-Radford, N. R., Takada, L. T., Sturm, V. E., Cleveland, C. M., Criswell, L. A., Jaeger, P. A., Stan, T., Heggeli, K. A., Hsu, S. C., Karydas, A., Khan, B. K., Grinberg, L. T., Gorno-Tempini, M. L., Boxer, A. L., Rosen, H. J., Kramer, J. H., Coppola, G., Geschwind, D. H., Rademakers, R., Seeley, W. W., Wyss-Coray, T., & Miller, B. L.
Affiliations
  • University of California, San Francisco (US)
  • Universidade de São Paulo (BR)
  • Stanford Medicine (US)
  • Mayo Clinic (US)
  • University of California, Los Angeles (US)
Corresponding author
Miller, Z. A.
ORCID
Venue
Journal of Neurology, Neurosurgery & Psychiatry
Publisher
BMJ
Published
2013-03-30
Volume
84
Issue
9
Pages
956-962
ISSN
0022-3050 (ISSN-L)
DOI
10.1136/jnnp-2012-304644
PMC
PMC3840954
OpenAlex
W2105846299
Cited by
170
References
4
Citations by year
2026: 5 · 2025: 10 · 2024: 20 · 2023: 12 · 2022: 13 · 2021: 13 · 2020: 11 · 2019: 18 · 2018: 18 · 2017: 10 · 2016: 12 · 2015: 10 · 2014: 11 · 2013: 7
FWCI
8.47
Type
journal article
Language
en
Open access
Locations
  • Journal of Neurology Neurosurgery & Psychiatry (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
  • Institutional Research Information System (Università degli Studi di Trento) (submittedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • National Science Foundation (P01AG019724, P50AG023501)
  • U.S. Department of Veterans Affairs
  • James S. McDonnell Foundation
  • Alzheimer's Association (P50 AG023501)
  • Larry L. Hillblom Foundation (2007/2I, #2002/2J, P50 AG023501, P50 AG1657303, R01 NS050915)
  • University of Washington
  • TauRx Pharmaceuticals
  • National Institutes of Health (AG023501, AG19724, NS050915, AG032306)
  • National Institute on Aging (P50‐AG16574, R01AG029577, R01AG040311, R01AG022983, K23AG040127, P01AG017586, U01AG010483, R01AG030144, P50AG1657303, R01AG032306, R01AG031278, R01AG026251, R01AG026938, P01-AG19724, K24AG045333, R01AG038791, P01AG019724, P50AG023501, P50AG016574)
  • National Institute of Neurological Disorders and Stroke (U01NS057496, R01NS065782, R01NS050915)
Topics
  • Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Keywords
semantic dementia, autoimmune disease, systemic inflammation, TNF-α, inflammatory arthritis, Alzheimer's disease
MeSH terms
Progranulins, Aged, Alzheimer Disease, Autoimmune Diseases, Educational Status, Female, Humans, Inflammation, Male, Middle Aged, Mutation, Neuropsychological Tests, Psychiatric Status Rating Scales, Tumor Necrosis Factor-alpha, Cohort Studies, Prevalence, Logistic Models, Aphasia, Primary Progressive, Intercellular Signaling Peptides and Proteins, Frontotemporal Lobar Degeneration, TDP-43 Proteinopathies

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review