The disorder is known as spino-cerebellar ataxia type 1, or SCA-1.

这种疾病被称为“脊髓小脑共济失调1(SCA-1)”。

These mutations result in degenerative changes in the cerebellum and often in the spinal cord which causes progressive problems with coordination and balance known as ataxia.

这些突变导小脑和脊髓退性改变，这会导性运动协调障碍、平衡障碍等，称为共济失调。

He has fever, sweats, tingling in his lips, fingers and toes, mood swings and lack of coordination.

他有发热，出汗，舌、手指、脚趾麻木，感情绪波动和共济失调。

If this happens, it causes Angelman syndrome, which results in severe intellectual diability, seizures, and ataxia.

如果此基因突变，则导安格尔曼综合征，患者出现重智力残疾、癫痫和共济失调。

Motor symptoms can include muscle weakness, muscle spasms, tremors, and ataxia, which is a loss of balance and coordination.

运动症状包括肌无力、肌痉挛、震颤和共济失调（失去平衡和协调运动）。

In fact, many different gene mutations have been identified each of which is known to cause different types of spinocerebellar ataxia.

实际上，目前已经鉴定出不同基因突变；每种突变都会导不同脊髓小脑性共济失调。

Alright as a quick recap, spinocerebellar ataxia is a group of progressive neurodegenerative diseases of genetic origin.

得！快速回顾一下～脊髓小脑性共济失调是一组遗传性性神经退性疾病。

[Morgan] Everything is kinda difficult for me, but because I have Friedreich's ataxia, which is a type of muscular dystrophy.

因为我患有弗里德赖希氏共济失调，这是一种肌肉萎缩症。

Her work with Harry is already being used in clinical trials for treating SCA-1 and other disorders.

霍尔：她与哈里合作研究已经应用于治疗脊髓小脑性共济失调1及其他疾病相关临床试验中。

The one I just read is, uh, an Ataxaphobic class president who is also Rentaro's cousin.

我刚读到是一个患有共济失调恐惧症班长，同时也是莲太郎表亲。

Huda says this collaboration has deepened their knowledge not just of SCA-1, but other neurological disorders, like Alzheimer's and Parkinson's disease.

霍尔：胡达说这次合作不仅加深了他们对脊髓小脑性共济失调1了解，还涉及到了其他神经性疾病，比如阿尔茨海默病和帕金森病。

They typically die around 20 years later, of causes related to breathing or swallowing problems. The disorder is known as spino-cerebellar ataxia type 1, or SCA-1.

他们通常在大约20年后因呼吸或吞咽问题相关病因去世。这种疾病被称为脊髓小脑性共济失调1，或简称SCA-1。

Between them, they've discovered that the gene responsible for SCA-1 produces a protein called ATAXIN-1 that causes clumps in the brain and leads to that loss of balance.

霍尔：他们共同发现，导脊髓小脑性共济失调1基因会产生一种名为共济失调蛋白1蛋白质，这种蛋白质会在大脑中形成团块，从而导平衡能力丧失。

Eventually, Huda found a mistake in the data from the family she was studying—everyone had assumed a group of daughters had inherited SCA-1 from their mother.

霍尔：最终，胡达在她研究家庭数据中发现了一个错误—— everyone had assumed 这群女儿都从她们母亲那里继承了脊髓小脑性共济失调1。

With the samples Huda gathered and the help of her colleagues, she discovered that the gene responsible for SCA-1 was located on chromosome 6.

霍尔：在胡达收集样本和同事帮助下，她发现导脊髓小脑性共济失调1基因位于6号染色体上。