Studies Of Hereditary Neurological Disease: Disease Gene Identification

该研究计划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。遗传外展计划允许识别和描述遗传性神经系统疾病的患者和家庭。过去一年的具体研究成果包括：（1）在鉴定脊髓小脑共济失调15型和20型的遗传缺陷方面进行合作;（2）在马里的巴马科制定一项合作遗传推广方案;（3）协作鉴定和评价Larsson-Linderholm综合征、家族性自身免疫性重症肌无力、和X连锁脊髓性肌萎缩症

The purpose of this research program is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. A genetic outreach program allows the identification and characterization of patients and families with hereditary neurological diseases. Specific research accomplishments in the past year include the following: (1) collaboration in the identification of genetic defects responsible for spinocerebellar ataxia types 15 and 20; (2) development of a collaborative genetic outreach program in Bamako, Mali; (3) collaboration in the identification and evaluation of candidate genes for Larsson-Linderholm syndrome, familial autoimmune myasthenia gravis, and X-linked spinal muscular atrophy.