美国国家公共电台 NPR Prion Test For Rare, Fatal Brain Disease Helps Families Cope

 

RACHEL MARTIN, HOST:

Scientists have developed a better test for a very rare brain disease. And as NPR's Rae Ellen Bichell reports, this test could lead to new ways to diagnose more common diseases like Parkinson's and Alzheimer's.

RAE ELLEN BICHELL, BYLINE¹: Last spring, Kay Schwister started feeling strange. Her head hurt, and she felt dizzy all the time. She was 53 years old. And aging, she thought, just didn't feel very good. But her husband Tim says over the next few weeks, she just got worse.

TIM SCHWISTER: She was so nauseous and so dizzy that she stopped driving and actually stopped working.

BICHELL: Tim says by the time Kay was admitted to the hospital, she was talking in a strange way.

SCHWISTER: And she would end at a very high note as you were talking to her. And you knew right away that something certainly wasn't right.

BICHELL: Doctors drew blood and spinal² fluid and tested it for all sorts of things, like multiple sclerosis and carbon monoxide poisoning. The tests all came back negative.

Tim and his two sons, one in college and one in high school, spent a lot of time at the hospital with Kay.

SCHWISTER: Not knowing what we were dealing³ with was probably one of the hardest things to ever go through in life. We really, truly wanted to know if there was something that we could do for her.

BICHELL: Weeks went by. Kay couldn't walk or talk anymore, but doctors still didn't know what was wrong. Then, Tim says, they ordered a brand new test for a rare condition, Creutzfeldt-Jakob disease, or CJD. It came back positive.

CJD is really rare, literally⁴ 1 in a million. It's fatal, and there's no treatment. The disease was shrinking Kay's brain and riddling⁵ it with holes.

SCHWISTER: It's almost as if it starts to turn certain portions of your brain off.

BICHELL: CJD is one of a number of diseases that happen when normal proteins in the brain get folded the wrong way, forming clumps⁶ that kill off neurons. Now that they had a diagnosis⁷, the Schwisters knew Kay didn't have long. Tim says family and friends flew in from all over the country to visit her in the hospital.

SCHWISTER: No, she didn't come home.

BICHELL: Kay died a few weeks later.

The reason a test for CJD exists at all is because of people like Byron Caughey. He's a biochemist at Rocky Mountain Laboratories in Montana, who helped develop the method, which involves a spinal tap and takes about four days. But why bother coming up with a test if there's nothing anyone can do about CJD?

BYRON CAUGHEY: Well, there's a couple of reasons why that's important. One is to provide accurate information to the patient, their family and the doctors so that they know what's ahead of them.

BICHELL: Caughey says another is to help researchers study possible treatments. And then there's this.

(SOUNDBITE OF ARCHIVED RECORDING)

UNIDENTIFED REPORTER: New this morning - a North Carolina hospital says surgical⁸ tools may have exposed 18 patients to a rare and deadly brain disease.

BICHELL: CJD can be passed between patients during certain surgeries, although the last report of that happening was in 1976. But the possibility can put hospitals on edge, says Caughey, because these misfolded proteins survive normal sterilization⁹.

CAUGHEY: It's already a small risk, but it'd be nice to reduce it to zero since it's fatal and there's no treatment and it's really devastating¹⁰ to all concerned.

BICHELL: Alison Green, a biochemist at the University of Edinburgh in the U.K., sees another possibility for this test - as a template for many others. She says while CJD may be extremely rare, there are much more common diseases that also involve proteins misfolding.

ALISON GREEN: Such as Alzheimer's disease, Parkinson's disease, Lewy body dementia and some forms of motor neuron disease as well.

BICHELL: The test for CJD specifically detects proteins called prions. But Alison Green is modifying it to detect other proteins, like alpha-synuclein, which is associated with Parkinson's disease. In a small study, Green's modified test successfully detected Parkinson's in 19 people. She's now redoing the study on a larger scale. And she's applied¹¹ for funding to work on a test that might someday spot Alzheimer's early on.

GREEN: So yes, the idea is to introduce it for Alzheimer's disease and other protein-misfolding disorders¹² as we go along.

BICHELL: Ultimately, Green says she'd like to have a whole bank of tests so that patients with any kind of undiagnosed dementia can get answers.

GREEN: If you have early onset¹³ dementia, do you really want to, maybe, spend the last few years of your life working? Or do you want to take early retirement¹⁴? They may be able to actually make decisions about their life.

BICHELL: Green and Caughey hope that in the future, their tests will give people the chance to make those decisions.

Rae Ellen Bichell, NPR News.

1 byline   

n.署名；v.署名

参考例句：

• His byline was absent as well.他的署名也不见了。
• We wish to thank the author of this article which carries no byline.我们要感谢这篇文章的那位没有署名的作者。

2 spinal   

adj.针的，尖刺的，尖刺状突起的；adj.脊骨的，脊髓的

参考例句：

• After three days in Japan,the spinal column becomes extraordinarily flexible.在日本三天，就已经使脊椎骨变得富有弹性了。
• Your spinal column is made up of 24 movable vertebrae.你的脊柱由24个活动的脊椎骨构成。

3 dealing   

n.经商方法，待人态度

参考例句：

• This store has an excellent reputation for fair dealing.该商店因买卖公道而享有极高的声誉。
• His fair dealing earned our confidence.他的诚实的行为获得我们的信任。

4 literally   

adv.照字面意义，逐字地；确实

参考例句：

• He translated the passage literally.他逐字逐句地翻译这段文字。
• Sometimes she would not sit down till she was literally faint.有时候，她不走到真正要昏厥了，决不肯坐下来。

5 riddling   

adj.谜一样的，解谜的n.筛选

参考例句：

• A long look from dark eyes, a riddling sentence to be woven on the church's looms. 深色的眼睛长久地凝视着，一个谜语般的句子，在教会的织布机上不停地织了下去。 来自互联网
• Data riddling on reconstruction of NURBS sur-faces in reverse engineering is a generalized conception. 逆向工程中nurbs曲面重构的数据筛选是一个广义的概念，它所涉及的内容很广泛，包括数据获取过程中的处理。 来自互联网

6 clumps   

n.（树、灌木、植物等的）丛、簇( clump的名词复数 )；（土、泥等）团；块；笨重的脚步声v.（树、灌木、植物等的）丛、簇( clump的第三人称单数 )；（土、泥等）团；块；笨重的脚步声

参考例句：

• These plants quickly form dense clumps. 这些植物很快形成了浓密的树丛。 来自《简明英汉词典》
• The bulbs were over. All that remained of them were clumps of brown leaves. 这些鳞茎死了，剩下的只是一丛丛的黃叶子。 来自《简明英汉词典》

7 diagnosis   

n.诊断，诊断结果，调查分析，判断

参考例句：

• His symptoms gave no obvious pointer to a possible diagnosis.他的症状无法作出明确的诊断。
• The engineer made a complete diagnosis of the bridge's collapse.工程师对桥的倒塌做一次彻底的调查分析。

8 surgical   

adj.外科的，外科医生的，手术上的

参考例句：

• He performs the surgical operations at the Red Cross Hospital.他在红十字会医院做外科手术。
• All surgical instruments must be sterilised before use.所有的外科手术器械在使用之前，必须消毒。

9 sterilization   

n.杀菌，绝育；灭菌

参考例句：

• Sterilization by filtration is subject to one major theoretical limitation. 过滤灭菌具有一个理论上的局限性。 来自辞典例句
• Sterilization is a treatment that frees the treated object of all living organisms. 灭菌处理是从处理对象排除一切生活的生物。 来自辞典例句

10 devastating   

adj.毁灭性的，令人震惊的，强有力的

参考例句：

• It is the most devastating storm in 20 years.这是20年来破坏性最大的风暴。
• Affairs do have a devastating effect on marriages.婚外情确实会对婚姻造成毁灭性的影响。

11 applied   

adj.应用的；v.应用，适用

参考例句：

• She plans to take a course in applied linguistics.她打算学习应用语言学课程。
• This cream is best applied to the face at night.这种乳霜最好晚上擦脸用。

12 disorders   

n.混乱( disorder的名词复数 )；凌乱；骚乱；（身心、机能）失调

参考例句：

• Reports of anorexia and other eating disorders are on the increase. 据报告，厌食症和其他饮食方面的功能紊乱发生率正在不断增长。 来自《简明英汉词典》
• The announcement led to violent civil disorders. 这项宣布引起剧烈的骚乱。 来自《简明英汉词典》

13 onset   

n.进攻，袭击，开始，突然开始

参考例句：

• The drug must be taken from the onset of the infection.这种药必须在感染的最初期就开始服用。
• Our troops withstood the onset of the enemy.我们的部队抵挡住了敌人的进攻。

14 retirement   

n.退休，退职

参考例句：

• She wanted to enjoy her retirement without being beset by financial worries.她想享受退休生活而不必为金钱担忧。
• I have to put everything away for my retirement.我必须把一切都积蓄起来以便退休后用。