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患有遗传性神经疾病的患者和家庭的特征。过去一年的具体研究成果包括：(1)在鉴定导致脊髓-小脑型共济失调20型的基因缺陷方面开展合作；(2)在马里巴马科开展了一项合作的遗传推广计划；(3)在拉尔森-林德霍尔姆综合征、家族性自身免疫性重症肌无力、2C型Charcot-Marie-Tooth病和一种新形式的遗传性痉挛截瘫的候选基因的鉴定和评估方面开展了合作。

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 the genetic defect responsible for spinocerebellar ataxia type 20; (2) 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, Charcot-Marie-Tooth disease type 2C, and a new form of hereditary spastic paraplegia.