Studies of Hereditary Neurological Disease

神经遗传学科的目的是研究遗传性神经疾病的病因，目标是开发有效的治疗方法。研究兴趣的特定领域包括多谷氨酰胺扩张性疾病（亨廷顿氏病、肯尼迪氏病和脊髓小脑性共济失调）、脊髓性肌萎缩症、腓骨肌萎缩症、先天性肌强直症、肌肉营养不良症、遗传性运动神经元疾病和弗里德里希氏共济失调症。在细胞培养和其他模型系统中研究疾病机制。基因转移技术正在被研究作为潜在的治疗方法。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神经疾病的患者和家庭。遗传性神经系统疾病、运动神经元疾病、多聚谷氨酰胺扩张症、腓骨肌萎缩症、肌肉萎缩症

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