Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

What is it about?

Question: Can hematopoietic stem cell transplantation slow down or halt disease progression in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia? Findings: A 33-year old female with a rapidly progressive spastic quadriparesis related to a CSF1R mutation underwent hematopoietic stem cell transplantation. Two years post-transplant, she is clinically stable, including absence of cognitive decline, and shows reduced disease activity by brain imaging. Meaning: Hematopoietic stem cell transplantation should be considered in patients with CSF1R mutations.

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