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

这种疾病被称为“脊髓小脑型共济失调1型(SCA-1)”。

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

如果此基因突，则导致安格尔曼综合征，患者出现严重的智力残疾、癫痫共济失调。

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

！速回顾一下～脊髓小脑性共济失调是一组遗传性进行性神退行性疾病。

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、震颤共济失调（失去平衡协调运动）。

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

实际上，目前已鉴定出不同的基因突；每种突导致不同类型的脊髓小脑性共济失调。

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

我刚读到的是一个患有共济失调恐惧症的班长，同时也是莲太郎的表亲。

[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：她与哈里合作的研究已应用于治疗脊髓小脑性共济失调1型及其他疾病的相关临床试验中。

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.

这些突导致小脑脊髓的退行性改，这导致进行性运动协调障碍、平衡障碍等，称为共济失调。

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型的了解，还涉及到了其他神性疾病，比如阿尔茨海默病帕金森病。

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：在胡达收集的样本同事的帮助下，她发现导致脊髓小脑性共济失调1型的基因位于6号染色体上。

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的病因去世。这种疾病被称为脊髓小脑性共济失调1型，或简称SCA-1。

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，胡达在她研究的家庭数据中发现了一个错误—— everyone had assumed 这群女儿从她们的母亲那里继承了脊髓小脑性共济失调1型。

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，导致脊髓小脑性共济失调1型的基因产生一种名为共济失调蛋白1的蛋白质，这种蛋白质在大脑中形成团块，从而导致平衡能力丧失。