Studies Of Hereditary Neurological Disease: Disease Gene Identification

遗传性神经疾病的研究：疾病基因鉴定

• 批准号: 7735279
• 负责人: Kenneth H Fischbeck
• 金额: $ 121.3万
• 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/7735279
• 关键词: Africa; Autoimmune Process; Biology; Candidate Disease Gene; Charcot-Marie-Tooth Disease; Collaborations; Disease; Evaluation; Family; Genes; Genetic; Goals; Hereditary Spastic Paraplegia; Inherited; Mali; Maps; Mutation; Myasthenia Gravis; Neurodegenerative Disorders; Patients; Purpose; Research; Single Nucleotide Polymorphism Map; Spinocerebellar Ataxias; Syndrome; base; nervous system disorder; novel; outreach program; programs

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.

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）合作鉴定导致脊髓小脑共济失调20型的遗传缺陷;（2）在马里巴马科开展合作遗传推广方案;（3）合作鉴定和评价Larsson-Linderholm综合征、家族性自身免疫性重症肌无力、Charcot-Marie-Tooth病2C型的候选基因，和一种新的遗传性痉挛性截瘫

项目成果

Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5.

20 型脊髓小脑共济失调在遗传上与 5 型脊髓小脑共济失调不同。

• DOI: 10.1212/01.wnl.0000247662.05197.59
• 发表时间: 2006
• 期刊: Neurology
• 影响因子: 9.9
• 作者: Lorenzo,DN;Forrest,SM;Ikeda,Y;Dick,KA;Ranum,LPW;Knight,MA
• 通讯作者: Knight,MA

Parkinson's genetics: an embarrassment of riches.

帕金森氏症遗传学：财富的尴尬。

• DOI: 10.1002/ana.10091
• 发表时间: 2002
• 期刊: Annals of neurology
• 影响因子: 11.2
• 作者: Gwinn-Hardy,Katrina;Farrer,Matt
• 通讯作者: Farrer,Matt

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34.

常染色体显性青少年肌萎缩侧索硬化症 (ALS4) 基因定位于染色体 9q34 上 500 kb 的间隔。

• DOI: 10.1007/pl00022976
• 发表时间: 2000
• 期刊: Neurogenetics
• 影响因子: 2.2
• 作者: Blair,IP;Bennett,CL;Abel,A;Rabin,BA;Griffin,JW;Fischbeck,KH;Cornblath,DR;Chance,PF
• 通讯作者: Chance,PF

X-linked Charcot-Marie-Tooth disease and connexin32

• DOI: 10.1006/cbir.1998.0387
• 发表时间: 1998-01-01
• 期刊: CELL BIOLOGY INTERNATIONAL
• 影响因子: 3.9
• 作者: Ionasescu, VV

Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.

• DOI: 10.1093/brain/awh378
• 发表时间: 2004-12
• 期刊: Brain : a journal of neurology
• 作者: D. Verbeek;M. Knight;G. Harmison;K. Fischbeck;Brian W. Howell