Investigating the role of mutated UFM1 in a recessive late-onset cerebellar ataxia (LOCA) that often evolves into a multiple system atrophy of cerebellar subtype (MSA-C)

研究突变 UFM1 在隐性迟发性小脑共济失调 (LOCA) 中的作用，该病通常演变成小脑多系统萎缩亚型 (MSA-C)

• 批准号: 172390
• 负责人: Brais Bernard
• 金额: $ 23.6万
• 依托单位: Centre hospitalier de l'Universit de Montral (CHUM)
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2008
• 资助国家: 加拿大
• 起止时间: 2008-09-01 至 2011-09-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=172390&lang=en
• 关键词: Ataxia; Cerebellum; Gene; Multiple System Atrophy; Neurodegeneration; Positional Cloning

Late-onset ataxias have largely been considered as either milder forms of dominant ataxias or sporadic diseases seemingly not caused by genetic factors. Their prevalence is unknown, but together they are poorly recognized cause of decreased mobility in ag

迟发性共济失调在很大程度上被认为是显性共济失调的较轻形式或散发疾病，似乎不是由遗传因素引起的。它们的患病率尚不清楚，但它们是老年人活动能力下降的原因