Studies Of Hereditary Neurological Disease: Disease Gene Identification

这项研究计划的目的是调查遗传性神经系统疾病的原因，以开发有效的治疗这些疾病的目标。遗传外展计划允许识别和表征遗传神经疾病的患者和家庭。在过去的一年中，具体的研究成果包括：(1)合作鉴定脊髓小脑共济失调15型和20型的遗传缺陷；(2)在马里巴马科开展合作遗传推广计划；(3)合作鉴定和评估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的候选基因。

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.