Studies of Hereditary Neurological Disease

遗传性神经系统疾病的研究

• 批准号: 6228065
• 负责人: Kenneth H Fischbeck
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6228065
• 关键词: Friedreich's ataxia; Huntington's disease; androgens; congenital neuromuscular disorder; degenerative motor system disease; disease /disorder model; genetic susceptibility; hereditary motor and sensory neuropathy; hormone regulation /control mechanism; motor neurons; muscle pharmacology; muscle strength; muscular dystrophy; neurogenetics; neuropharmacology; tissue /cell culture; transfection

The purpose of the Neurogenetics Branch is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Particular areas of research interest include the polyglutamine expansion diseases (Huntingtons disease, Kennedys disease, and spinocerebellar ataxia), spinal muscular atrophy, Charcot-Marie-Tooth disease, myotonia congenita, muscular dystrophy, hereditary motor neuron disease, and Friedreichs ataxia. The disease mechanisms are studied in cell culture and other model systems. Gene transfer techniques are being investigated as potential treatment. A related area of investigation is the mechanism of androgen effects on muscle strength and motor neuron survival. A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. - hereditary neurological disease, motor neuron disease, polyglutamine expansion, Charcot-Marie-Tooth disease, muscular dystrophy

神经遗传学分支的目的是调查遗传性神经系统疾病的原因，目的是为这些疾病开发有效的治疗方法。特别感兴趣的研究领域包括多聚谷氨酰胺扩增疾病（亨廷顿病、亨廷顿病和脊髓小脑共济失调）、脊髓性肌萎缩症、腓骨肌萎缩症、先天性肌强直、肌营养不良症、遗传性运动神经元病和弗里德赖希共济失调。在细胞培养和其他模型系统中研究疾病机制。基因转移技术作为潜在的治疗方法正在研究中。一个相关的研究领域是雄激素对肌肉力量和运动神经元存活的影响机制。遗传外展计划旨在识别和表征遗传性神经系统疾病患者和家庭。- 遗传性神经系统疾病、运动神经元疾病、多聚谷氨酰胺扩增、腓骨肌萎缩症、肌营养不良