2021 年 38 巻 3 号 p. 384-387
Adrenoleukodystrophy (ALD) is an X–linked neurodegenerative disorder sometimes accompanied with adrenal insufficiency. The causative gene is ABCD1. Wide variety of phenotypes is the characteristic of ALD even in the same family. For childhood–onset cerebral ALD (CCALD) at early stages, hematopoietic stem cell transplantation (HSCT) is effective to stop the progression of inflammatory demyelination of the cerebral white matter. For adult–onset cerebral ALD (ACALD), there were little experience of HSCT. We performed HSCT for adult–onset cerebral/cerebellobrainstem form ALD patients at early stages (8 ACALD patients and 4 cerebellobrainstem form patients). The survival probability was significantly better in patients who underwent HSCT compared with patients who did not undergo HSCT (P＝0.0089). For all the patients who underwent HSCT, symptoms caused by cerebral/cerebellobrainstem white matter lesions became stable or partially improved after HSCT. Gadolinium–enhancement on brain MRI was disappeared/obscured in all the patients after HSCT. Enlarging white matter lesions became stable within one year after HSCT in all the patients. In 7 patients, white matter lesions reduced in size after HSCT. For ACALD and cerebellobrainstem form ALD patients at early stages, HSCT is effective to stop the progression of inflammatory demyelination of white matter lesions.
