期刊
PHARMACEUTICS
卷 14, 期 12, 页码 -出版社
MDPI
DOI: 10.3390/pharmaceutics14122778
关键词
adult-onset; axonal spheroids; pigmented glia; ALSP; HSCT; bone marrow transplant; neurodegenerative; white matter; leukodystrophy
This study aimed to identify predictors of good and bad outcomes in CSF1R-ALSP patients who underwent HSCT. The results showed that gait problems were associated with a milder phenotype and better response to HSCT, while cognitive impairment was predictive of poor prognosis and worsening cognition post-HSCT.
Mutations in the CSF1R 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 CSF1R-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 CSF1R-ALSP. We retrospectively analyzed 15 patients, 14 symptomatic and 1 asymptomatic, with CSF1R-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 (p = 0.041) and predominant (p = 0.017) manifestation and younger age at HSCT (p = 0.044). Cognitive impairment as first manifestation was a predictor of a bad outcome (p = 0.016) and worsening of cognition post-HSCT (p = 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.
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