Creutzfeldt-Jakob Disease (CJD) is an infectious disease that causes the brain to degenerate. The hallmark of this disease is mental deterioration and involuntary muscle spasms. Over time, the disease causes growing problems along with memory, personality changes, and dementia.
It is a type of transmissible spongiform encephalopathies (TSEs) or prion disease. These types of diseases can spread between human and animals.
Spongiform refers to the way the brain will start to develop holes in it. The holes give the brain a similar appearance to a sponge. Prion refers to a mutated protein that you may spontaneously develop, come in contact with, or inherit.
CJD is a rare and often fatal disease with about
There are
- 零星CJD：占新案件的85％，而没有已知风险因素的人
- 世袭CJD：accounts for about 10 to 15 percent of new cases and develops due to an inherited genetic defect
- acquired CJD: accounts for remaining cases of CJD and occurs from exposure to infected nervous system tissue and infected meat
CJD progresses rapidly. About
CJDoften startswith a sudden onset of cognitive impairment and issues with movement. For sporadic and hereditary CJD, the average age of onset is between 40 and 60, while acquired forms have an average age of onset of 28 and typically affect younger adults.
Symptoms of CJD often start as barely noticeable and then rapidly progress. These typically include:
- dementia
- loss of balance or coordination
- 人格和行为变化
- confusion or disorientation
- convulsions/seizures
- muscle changes including loss of mass, weakness, and tremors
- insomnia
- difficulty talking
- 失明或视力障碍
- 沮丧
- coma
- increased risk of infections
Though these symptoms typically describe all three types of CJD, acquired CJD has three notable differences. They include:
- 发病年龄通常发生在青少年和20年代
- 疾病的进展需要更长的时间
- 精神病症状往往更糟
General scientific consensus
简而言之，王子在细胞内执行特定功能，并且在中枢神经系统中最丰富。当您开发零星或遗传的CJD时，负责创建prions的蛋白质之一会变得异常，并产生感染的prion。
然后，感染的prion在链反应中通过中枢神经系统传播，或者像多米诺骨牌被撞倒，直到最终到达大脑并导致病变或孔的发育。
The chain reaction is similar in all three types of CJD. But they do differ in how the infected prion gets started. Here’s how they break down:
- 零星CJD：细胞内的错误会产生受感染的prion。这在高级时代更为普遍。
- 世袭CJD：A change in your genetic code creates an infected prion, which you can then pass on to your children through sperm or egg cells.
- acquired CJD:In acquired forms, including variant CJD, the prion comes from outside of the body, often in the form of eating infected meat.
CJD and mad cow disease
There’s
BSE affected cattle in the United Kingdom, primarily in the 1990s and early 2000s. Variant CJD (vCJD) first appeared in humans in 1994–1996, about a decade after people first had extended exposure to potentially BSE-contaminated beef.
根据
三种类型的CJD
Sporadic CJD
Sporadic CJD can develop anytime between the ages of 20 and 70. However, it most commonly affects people in their 60s. Sporadic CJD does not occur due to contact with infected meats, such as with mad cow disease.
当正常蛋白自发突变为异常的prion类型时，发生零星的CJD。根据
Hereditary CJD
Hereditary CJD accounts for
收购库贾氏症
收购库贾氏症, which vCJD (mad cow disease) is a part of, occurs in both animals and humans. It
You can become infected with acquired CJD by eating meat that’s contaminated with infectious prions. However, your risk of eating infected meat is very low.
You can also become infected after receiving blood or transplanted tissues, such as a cornea, from an infected donor.
The disease can also be transmitted by surgical instruments that haven’t been properly sterilized. Risk of this is low, though. That’s because there are rigorous sterilization protocols for instruments that have been in contact with tissue at risk for prion exposure, such as brain or eye tissue.
Despite media attention on mad cow disease, vCJD is very rare. According to the
获得CJD的风险
如果您有一个患有遗传性CJD的家庭成员，则会有更高的CJD风险。
收购库贾氏症is not always easy to diagnose. In fact, since2018, the CDC has changed their diagnostic criteria to state that the only way to confirm diagnosis of CJD is through testing brain tissue, which is done at the time of autopsy.
Still, a doctor can test for and determine a probable diagnosis of CJD in living people. Two tests doctors use — together with clinical symptoms — to make a probable diagnosis include:
- real-time quaking-induced conversion (RT-QuIC): looks for abnormal prions in spinal fluid
- 磁共振成像（MRI）：寻找大脑内的变性
Often, these tests along with clinical symptoms is enough for a probable diagnosis, but a doctor may order an electroencephalogram (EEG) for an additional scan of the brain.
A doctor can, however, diagnose hereditary forms of CJD based on:
- 家庭病史的评论
- appearance of clinical symptoms
- genetic testing to find variants in the PRNP gene
If you have a family member who developed hereditary CJD, you should consider genetic counseling.
No known cure or effective treatment for CJD
但是，医生可能会开药以帮助缓解症状。一些可能的药物包括：
- opiate drugs for pain relief
- clonazepam and sodium valproate for muscle spasms
- intravenous fluids
- feeding tubes
研究人员have triedseveral different treatment approaches, including:
- antiviral agents
- amantadine
- antibiotics
- steroids
- interferons
- Acyclovir
Unfortunately, none of the tested methods have shown consistent, positive results in humans.
CJD has a very high mortality rate with about
Symptoms of CJD will typically get worse until you lapse into a coma or develop a secondary infection. The most frequent causes of death for people with CJD include:
- 肺炎
- other infections
- 心脏衰竭
