STUDIES OF GAUCHER DISEASE AND OTHER NEUROGENETIC DISORDERS

神经遗传性疾病的临床研究为 改进诊断的技术和策略的发展 心理治疗。通过拥有一个全面的 了解该疾病的生物化学和临床异质性。 高雪氏病是最常见的鞘磷脂沉积症，作为一种 洞察这组神经遗传性疾病的模型，因为 神经病变和非神经病变表型的出现情况如下 以及主要类型中广泛的临床多样性 这是一种混乱。一旦全身受累的病理生理机制 都了解到，神经系统功能障碍的治疗可能更多 理性地对待。葡萄糖脑苷酶的基础研究 对高谢病的缺乏，产生了更详细的理解 的结构、生物合成、细胞内路由和周转 酵素。这些研究将补充我们分支机构内的其他研究。 关注基因的潜力和功效的研究 将转移作为一种治疗方法。

The clinical study of neurogenetic diseases provides the foundation for the development of techniques for improved diagnosis and strategies for therapy. This goal is greatly facilitated by having a comprehensive knowledge of the biochemistry and clinical heterogeneity of the disorder. Gaucher disease, the most common sphingolipidosis, has a high priority as a model for gaining insight into this group of neurogenetic disorders because of the occurrence of both neuronopathic and non-neuronopathic phenotypes as well as the broad spectrum of clinical diversity within the major types of the disorder. Once the pathophysiologic mechanisms of systemic involvement are understood, the therapy of nervous system dysfunction may be more rationally approached. Basic research on glucocerebrosidase, the enzyme deficient in Gaucher disease, has generated a more detailed understanding of the structure, biosynthesis, intracellular routing, and turnover of the enzyme. These studies will complement other studies within our branch focusing on the investigation of the potential and efficacy of gene transfer as a therapeutic approach.