Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 18
- 试验地点
- 1
研究概览
简要总结
OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies.
II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.
详细描述
PROTOCOL OUTLINE: Participants undergo a comprehensive clinical and molecular evaluation. Studies include: neurologic evaluation, including magnetic resonance imaging and nerve conduction studies; ophthalmologic exam; audiologic exam, including auditory brain stem evoked response; DNA extraction from blood, skin and muscle; genotype phenotype correlation.
A neuropathologic evaluation is conducted postmortem, when possible.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
研究者
Tetsuo Ashizawa
Professor and Chair, Department of Neurology, The University of Texas Medical Branch
Office of Rare Diseases (ORD)