Sakai N, Inui K, Okada S
Department Environmental Medicine, Osaka Medical Center for Maternal and Child Health.
Nihon Rinsho. 1995 Dec;53(12):2947-51.
Krabbe disease is an autosomal recessive inherited demyelinating disease, which is deficient in lysosomal enzyme, galactocerebrosidase. Pathophysiological characteristics of this disease are extreme demyelination in white matter and peripheral nerve, existence of globoid cells, absence of accumulation of main substrates, i.e. galactocerebrosidase in tissues and accumulation of psychosine. Molecular basis of this disease including isolation of a cDNA for human and murine galactocerebrosidase and cloning of genome of this gene are reviewed. The trial of gene therapy on twitcher, the mouse model of Krabbe disease, could break through on therapy on this progressive demyelinating disease.
克拉伯病是一种常染色体隐性遗传性脱髓鞘疾病，其溶酶体酶半乳糖脑苷脂酶缺乏。该疾病的病理生理特征为白质和周围神经极度脱髓鞘、存在球样细胞、组织中主要底物即半乳糖脑苷脂无蓄积以及半乳糖神经酰胺蓄积。本文综述了该疾病的分子基础，包括人及小鼠半乳糖脑苷脂cDNA的分离及该基因基因组的克隆。对克拉伯病小鼠模型颤抖鼠进行基因治疗的试验，有望在这种进行性脱髓鞘疾病的治疗上取得突破。
