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November 14, 2025Journal of Movement DisordersOpen Access

Clinical and Pathological Features of CSF1R-Related Disorder Associated with the p.R777Q Pathogenic Variant

Tomasz Chmiela Delaney Liskey Audrey J. Strongosky Stuart J McCarter Paula Sandroni Dennis W. Dickson Zbigniew K. Wszolek

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Abstract

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.

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Chmiela et al. (2025) studied this question.

synapsesocial.com/papers/692519a7c0ce034ddc353f51 https://doi.org/10.14802/jmd.25247

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