Hematopoietic Stem Cell Transplantation in -Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes.

Mutations in the gene are the most common cause of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a neurodegenerative disease with rapid progression and ominous prognosis. Hematopoietic stem cell transplantation (HSCT) has been increasingly offered to patients with -ALSP. However, different therapy results were observed, and it was not elucidated which patient should be referred for HSCT. This study aimed to determine predictors of good and bad HSCT outcomes in -ALSP. We retrospectively analyzed 15 patients, 14 symptomatic and 1 asymptomatic, with -ALSP that underwent HSCT. Median age of onset was 39 years, and the median age of HSCT was 43 years. Cognitive impairment was the most frequent initial manifestation (43%), followed by gait problems (21%) and neuropsychiatric symptoms (21%). Median post-HSCT follow-up was 26 months. Good outcomes were associated with gait problems as initial ( = 0.041) and predominant ( = 0.017) manifestation and younger age at HSCT ( = 0.044). Cognitive impairment as first manifestation was a predictor of a bad outcome ( = 0.016) and worsening of cognition post-HSCT ( = 0.025). In conclusion, gait problems indicated a milder phenotype with better response to HSCT and good therapy outcomes. In contrast, patients with a higher burden of cognitive symptoms were most likely not to benefit from HSCT.