Department of Neurology, Gyeongsang National University School of Medicine, Jinju, Korea.
Department of Neurology, Seoul National University, College of Medicine, Seoul, Korea.
J Mov Disord. 2009 Oct;2(2):91-4. doi: 10.14802/jmd.09025. Epub 2009 Oct 30.
X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature.
X 连锁肾上腺脑白质营养不良（X-ALD）是一种影响神经系统和肾上腺皮质的遗传性神经疾病。X-ALD 的表型范围从快速进展的脑型到较轻的肾上腺脑脊髓神经病。然而，小脑表现较为罕见。我们报告了一例表现为进行性小脑功能障碍类似于橄榄脑桥小脑变性的肾上腺脑白质营养不良病例，并进行了文献复习。
