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- W4366277583 abstract "Late-onset Krabbe disease is a disorder with autosomal recessive inheritance caused by a deficiency in galactocerebrosidase (GALC) activity. Its late-onset form usually shows slow disease progression with atypical symptoms including spastic paresis. The efficacy of hematopoietic stem cell transplantation (HSCT) in late-onset Krabbe disease has not been fully established.We describe the case of a patient with late-onset Krabbe disease showing progressive spastic paraparesis. At the age of 18, one and a half years after the development of symptoms, the patient underwent HSCT. After HSCT, the patient's GALC activity returned to a normal level and the lesions in the brain and spinal cord became faint on images. Over two and a half years after the HSCT, the patient's gait remained spastic, however, an improvement in gait speed and modified Rankin Scale score was observed. No severe adverse events occurred during this period.Our experience reported herein provides additional evidence for a favorable course in HSCT conducted in the early course of late-onset Krabbe disease." @default.
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- W4366277583 date "2023-08-01" @default.
- W4366277583 modified "2023-10-18" @default.
- W4366277583 title "Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease" @default.
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- W4366277583 doi "https://doi.org/10.1016/j.braindev.2023.04.001" @default.
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