Year: 2016
Type: article
Study design: Observational Study
Abstract: 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.
Authors: Zachary A. Miller, Virginia E. Sturm, Gamze Balci Camsari, Anna Karydas, Jennifer S. Yokoyama, Lea T. Grinberg, Adam L. Boxer, Howard J. Rosen, Katherine P. Rankin, Maria Luisa Gorno-Tempini, Giovanni Coppola, Daniel H. Geschwind, Rosa Rademakers, William W. Seeley, Neill R. Graff-Radford, Bruce L. Miller
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,450
Funders: Larry L. Hillblom Foundation, 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, Genentech, Fidelity Biosciences, University of California, San Francisco, Avid Radiopharmaceuticals, Houston Methodist Research Institute, National Institute on Aging, National Institute of Mental Health, National Institute on Deafness and Other Communication Disorders, National Institute of Neurological Disorders and Stroke
Awards: G1845811550, G1888650583, G2669865703, G2908210938, G3261834735, G413369726, G4692524403, G4766585056, G4785297107, G5488945457, G570682065, G5846511141, G5971171967, G603598372, G6299315378, G6492025387, G6674657880, The Frontotemporal Lobar Degeneration Neuroimaging Initiative, G7247542487, G8342502279, Multimodal Imaging in Frontotemporal Degeneration, The Four Repeat Tauopathy Neuroimaging Initiative, G898313041, G9000018678, G9000027480, G9000029343, G9000036492, G9000052518, G9000281426, Training program in the neurology of language and neurodegenerative aphasias, G921109410
OpenAlex ID: W2540127583