别名 3s, Spinocerebellar Ataxia、AZOREAN NEUROLOGIC DISEASE、Ataxia 3, Spinocerebellar + [103] |
简介 A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) |
作用机制 EAAT2调节剂 [+3] |
原研机构 |
最高研发阶段申请上市 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
靶点 |
作用机制 TFEB激活剂 |
最高研发阶段临床3期 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
作用机制 钾离子通道激动剂 |
最高研发阶段临床1期 |
首次获批国家/地区- |
首次获批日期1800-01-20 |
开始日期2024-12-31 |
申办/合作机构 |
开始日期2023-10-03 |
开始日期2023-03-23 |
申办/合作机构 |