Clinical and Pathological Features of CSF1R-Related Disorder Associated with the p.R777Q Pathogenic Variant
The p.R777Q variant has an aggressive course compared to CSF1R-RD associated with other variants. Index case had milder neuropathological findings compared to case with long disease duration. These differences may be specific to p.R777Q or associated with rapid clinical progression.
Authors
- Delaney Liskey
- Dennis W. Dickson (ORCID: https://orcid.org/0000-0001-7189-7917)
- Zbigniew K. Wszołek (ORCID: https://orcid.org/0000-0001-5487-1053)
- Stuart J. McCarter (ORCID: https://orcid.org/0000-0001-8158-8835)
- Paola Sandroni (ORCID: https://orcid.org/0000-0001-7618-9661)
- Audrey Strongosky (ORCID: https://orcid.org/0000-0003-4734-0339)
- Tomasz Chmiela (ORCID: https://orcid.org/0000-0001-6022-7731)
Institutions
- Mayo Clinic (US)
- Medical University of Silesia (PL)
- Jacksonville College (US)
- WinnMed (US)
- Mayo Clinic in Arizona (US)
- Mayo Clinic in Florida (US)
Publication Details
- Journal
- Journal of Movement Disorders
- Published
- 2025-11-14
- DOI
- https://doi.org/10.14802/jmd.25247
- Primary Topic
- Autoimmune Neurological Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Eli Lilly and Company
- National Institutes of Health
- National Institute on Aging
- National Institute of Neurological Disorders and Stroke