2023 American Academy of Neurology Abstract Website

Objective:

To determine predictors of good and bad outcomes of CSF1R-related leukoencephalopathy treatment with hematopoietic stem cell transplantation (HSCT).

Background:

CSF1R-related leukoencephalopathy is a rare autosomal-dominant neurodegenerative disease with an ominous prognosis and death within a few years from symptomatic disease onset. Recently, treatment with HSCT has been proposed as an effective therapy. However, the therapy results are variable, and there is a need to ascertain predictors of HSCT outcomes.

Design/Methods:

We analyzed the medical records of our patients and retrieved the available data in the literature on patients with CSF1R-related leukoencephalopathy treated with HSCT.

Results:

We found 14 symptomatic and 1 asymptomatic patient with CSF1-related leukoencephalopathy treated with HSCT. The median age of symptomatic disease onset was 39 (range 32-50 years), with cognitive impairment being the most common initial manifestation (43% of patients). Cognitive decline and gait problems were the predominant symptoms in most patients (37% each). The median disease duration before HSCT was 24 months (range 11-144 months). The median follow-up post-HSCT was 26 months (range 3-180 months). Cognition, neuropsychiatric, extrapyramidal, pyramidal symptoms, gait, and seizures, deteriorated in 6, 5, 6, 3, 4, and 1 patients, respectively. Improvement or no change in cognition, neuropsychiatric, extrapyramidal, pyramidal symptoms, gait, and seizures, was observed in 9, 10, 7, 9, 11, and 10 patients, respectively. One patient died 88 days after the HSCT. Three patients remained professionally active, and five were independent in activities of daily living during post-HSCT follow-up. Further statistical calculations were underway at the moment of submitting the abstract.

Conclusions:

CSF1R-related leukoencephalopathy is a devastating disease and HSCT is a major procedure with potentially life-threatening complications. Therefore it is of paramount importance to determine the predictors of good and bad outcomes and find the best candidates for the therapy with HSCT.