What is early-onset Alzheimer disease?

Alzheimer disease is the most common form of dementia. It affects your memory, thinking, and behavior. 它经常发展到影响日常活动和功能的程度.

Alzheimer disease most commonly affects older adults. But it can also affect people in their 30s or 40s. When Alzheimer disease happens in someone younger than age 65, it's known as early-onset (or younger-onset) Alzheimer disease.

只有极少数阿尔茨海默病患者是早发型. Many of them are in their 40s and 50s when the disease takes hold.

Most types of early-onset Alzheimer disease are the same. But there are a few small distinctions:

• Common Alzheimer disease. 大多数患有早发性阿尔茨海默病的人都有这种疾病的常见形式. 这种疾病的发展方式与老年人的发展方式大致相同.

• Genetic (familial) Alzheimer disease. This form is very rare. 几百人有直接导致老年痴呆症的基因. 这些人在30多岁、40多岁或50多岁时开始出现这种疾病的症状. 

What causes early-onset Alzheimer disease?

Experts don't know what triggers the start of Alzheimer disease. They suspect that 2 proteins damage and kill nerve cells. 一种蛋白质，β -淀粉样蛋白的碎片会逐渐堆积，被称为斑块. Twisted fibers of another protein, tau, are called tangles. Almost everyone develops plaques and tangles as they age. But those with Alzheimer disease develop many, many more. These plaques and tangles first damage the memory areas of the brain. Over time, they affect more areas of the brain. 专家们不知道为什么有些人会出现这么多斑块和缠结，也不知道它们是如何扩散和损害大脑的.

Who is at risk for early-onset Alzheimer disease?

家族病史是目前已知的唯一危险因素.

What are the symptoms of early-onset Alzheimer disease?

For most people with early-onset Alzheimer disease, 这些症状与其他形式的阿尔茨海默病非常相似.

Early symptoms are:

• 忘记重要的事情，尤其是新学的信息或重要的日期

• Asking for the same information again and again

• 无法解决基本问题，比如记录账单或遵循最喜欢的食谱

• Losing track of the date or time of year

• Losing track of where you are and how you got there

• Trouble with depth perception or other vision problems

• 难以加入谈话或找不到合适的词来表达某事

• 把东西放错了地方，却无法回头去找

• Increasingly poor judgment

• Withdrawal from work and social situations

• Changes in mood and personality

Later symptoms are:

• Severe mood swings and behavior changes

• Deepening confusion about time, place, and life events

• Suspicions about friends, family, or caregivers

• Trouble speaking, swallowing, or walking

• Severe memory loss

How is early-onset Alzheimer disease diagnosed?

目前对早发性阿尔茨海默病的诊断依赖于发现上述智力下降的迹象. 你的医疗保健提供者可以通过一些测试来诊断阿尔茨海默病.

First, your healthcare provider asks about your health history. 他们还对记忆力、解决问题和其他心理技能进行认知测试. Depending on the results of the office-based cognitive testing, 你的医生也可能会要求你和神经心理学家一起做更详细的测试. Your provider might also test your blood, urine, and spinal fluid. 你可能还需要某些成像测试，比如大脑的CT和MRI扫描. 这可以让医生更仔细地观察脑组织，以显示损伤的程度.

In the future, 研究人员希望对生物标志物的研究能让专家更快地诊断出这种疾病. Biomarkers are proteins in the body, or other types of markers, that reliably indicate the progress of a disease.

How is early-onset Alzheimer disease treated?

Early-onset Alzheimer disease currently has no cure. 但医疗服务提供者已经成功地帮助一些人保持了他们的精神功能, control behavior, and slow the progress of the disease.

Medicines are used to help people maintain mental function. They may include:

• Donepezil

• Rivastigmine

• Galantamine

• Memantine

• Lecanemab-irmb

Results have been mixed. 但这些药物似乎可以帮助人们缓解症状，时间从几个月到几年不等.

其他可能在减缓早发性阿尔茨海默病进展方面发挥作用的治疗方法包括体育锻炼, cardiovascular and diabetes treatments, antioxidants, and cognitive training. A number of studies are ongoing in this area, 研究人员每天都在学习有关阿尔茨海默病的新知识.

Can early-onset Alzheimer disease be prevented?

Experts don’t know how to prevent Alzheimer disease. 最近，一些证据表明，早期发现这种疾病可以带来更好的治疗选择. 最好寻找上面提到的任何早期预警信号，如果发现任何迹象，立即去看你的医疗保健提供者. Keeping active both physically and mentally, as well as socializing with others, seem to offer some protection.

Living with early-onset Alzheimer disease

Early-onset Alzheimer disease can be a hard disease to cope with. 它有助于有一个积极的前景，并保持积极和精神上尽可能投入.

It’s also important to realize that you are not alone. Rely on your friends and family as much as possible. 不要害怕加入一个支持小组，如果你觉得它可能会有帮助.

当疾病仍处于早期阶段时，考虑未来是至关重要的. This can include financial planning, working with employers on current and potential job responsibilities, clarifying health insurance coverage, 在你的健康状况恶化时，整理好所有重要的文件. 

Alzheimer disease has no cure. 但是你可以通过保持你的思想和身体尽可能的健康，在糟糕的情况下做到最好. This can include:

• Eating a healthy diet

• Getting regular exercise

• Cutting down on alcohol

• Using relaxation methods to reduce stress

When should I call my healthcare provider?

As with any disease, it's important to keep an eye on your condition. 如果你发现自己有任何突然的变化，打电话给你的医疗保健提供者, or in the person you care for, that make more help necessary. You can discuss the next steps with your provider.

Key points about early-onset Alzheimer disease

• Alzheimer disease commonly affects older people. 但早发性阿尔茨海默病可能会影响30多岁或40多岁的人.

• Alzheimer disease affects memory, thinking, and behavior.

• 目前尚无治愈方法，但早期诊断和治疗可以提高生活质量.

• Stay healthy with a good diet and regular exercise.

• 远离酒精和其他可能影响记忆、思维和行为的物质.

Next steps

帮助您从医疗保健提供者那里获得最大收益的建议:

• Know the reason for your visit and what you want to happen.

• Before your visit, write down questions you want answered.

• 带一个人来帮你问问题，记住你的医生告诉你的.

• 在就诊时，写下新诊断的名称，以及任何新的药物、治疗方法或测试. Also write down any new instructions your provider gives you.

• 了解为什么要开一种新药或治疗方法，以及它将如何帮助你. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• 了解为什么要推荐一个测试或程序，以及结果可能意味着什么.

• 知道如果你不吃药或不做检查或不做手术会发生什么.

• 如果你有后续预约，写下日期、时间和目的.

• Know how you can contact your provider if you have questions, especially after office hours and on weekends and holidays.

#明日发现:用数据诊断脑部疾病|迈克尔·I. Miller, Ph.D.

- Watch on YouTube

约翰·霍普金斯大学的研究员迈克尔·米勒解释了我们如何利用数据为阿尔茨海默病等神经退行性疾病创造更好的诊断工具.