Researchers suggest that a smell test could boost the accuracy of an Alzheimer's diagnosis.
Alzheimer's disease is a neurological disorder characterized by memory problems and changes in behavior. It is the most common form of dementia, accounting for around 60-80 percent of all dementia cases in the United States.
According to the Alzheimer's Association, around 5.4 million people in the U.S. are living with the disease, and every 66 seconds, one more person develops it.
At present, there is no single test for the diagnosis of Alzheimer's. Doctors make a diagnosis through a series of assessments, including physical and neurological examinations, mental state tests, blood tests, brain imaging, and an evaluation of medical history.
Previous studies have suggested that sense of smell diminishes with Alzheimer's; as such, researchers have increasingly investigated whether a sniff test could be used to detect the disease.
A study reported by Medical News Today in November, for example, revealed how a series of olfactory tests effectively pinpointed patients with Alzheimer's, and researchers found that patients with a reduced sense of smell were more likely to have brain abnormalities associated with the disease.
The new study from Roalf and team offers support to such research, after finding that a sniff test boosted the diagnostic accuracy for Alzheimer's disease and mild cognitive impairment (MCI), which is considered a precursor to Alzheimer's.
Smell test enabled more accurate diagnosis of Alzheimer's, MCI
To reach their findings, Roalf and colleagues enrolled 728 older adults, of whom 292 were healthy, 262 had Alzheimer's disease, and 174 had MCI.Participants' sense of smell was tested using the Sniffin' Sticks Odor Identification Test (SS-OIT), which required them to identify 16 different odors. Subjects also underwent standard cognitive testing.
The researchers assessed the accuracy of cognitive testing alone for the diagnosis of Alzheimer's and MCI, as well as in combination with the SS-OIT.
The team found that the SS-OIT significantly increased diagnostic accuracy for patients; cognitive testing alone diagnosed MCI with 75 percent accuracy, but this increased to 87 percent when SS-OIT was included.
Similar results were seen for the diagnosis of Alzheimer's disease, and the team says that the SS-OIT even helped to identify which patients had more advanced forms of MCI.
"These results suggest that a simple odor identification test can be a useful supplementary tool for clinically categorizing MCI and Alzheimer's, and even for identifying people who are at the highest risk of worsening."
David R. Roalf, Ph.D.
Plans for future research
While larger dementia clinics have already started using smell tests as a diagnostic tool for Alzheimer's disease in older adults, Roalf notes that the most accurate tests tend to take a long time to administer, which could be discouraging their widespread use.As such, he and his colleagues plan to create a faster, simplified smell test for Alzheimer's diagnosis.
"We're hoping to shorten the Sniffin' Sticks test, which normally takes 5 to 8 minutes, down to 3 minutes or so, and validate that shorter test's usefulness in diagnosing MCI and dementia - we think that will encourage more neurology clinics to do this type of screening," says Roalf.
Additionally, the researchers plan to study whether protein markers of Alzheimer's - which can be found in the brain region that is responsible for sense of smell - can be identified in nasal fluid. This, the team says, could enable earlier detection of the disease.
Dementia and Alzheimer’s disease aren’t the same. You can have a form of
dementia that’s completely unrelated to Alzheimer’s disease. According to the
National Institute on Aging, dementia is a type of brain disorder that impacts
performance of daily activities and communication. Alzheimer’s disease is type
of dementia that affects memory, language, and thought.
Although younger people can develop dementia or Alzheimer’s disease, your risk increases as you age. Still, neither is considered a normal part of aging.
Although younger people can develop dementia or Alzheimer’s disease, your risk increases as you age. Still, neither is considered a normal part of aging.
Part 2 of 6
Dementia
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People can have more than one type of dementia. This is known as mixed dementia. Often, people with mixed dementia have multiple conditions that may contribute to dementia. A diagnosis of mixed dementia can only be confirmed in an autopsy.
As dementia progresses, it can have a huge impact on the ability to function independently. It’s a major cause of disability for older adults, and places an emotional and financial burden on families and caregivers.
The World Health Organization says that 47.5 million people around the world are living with dementia.
Symptoms of dementia
It’s easy to overlook the early symptoms of dementia, which can be mild. It often begins with simple episodes of forgetfulness. People with dementia have trouble keeping track of time and tend to lose their way in familiar settings.As dementia progresses, forgetfulness and confusion grow. It becomes harder to recall names and faces. Personal care becomes a problem. Obvious signs of dementia include repetitious questioning, inadequate hygiene, and poor decision-making.
In the most advanced stage, people with dementia become unable to care for themselves. They will struggle even more with keeping track of time, and remembering people and places they are familiar with. Behavior continues to change and can turn into depression and aggression.
Causes of dementia
You’re more likely to develop dementia as you age. It occurs when certain brain cells are damaged. Many conditions can cause dementia, including degenerative diseases such as Alzheimer’s, Parkinson’s, and Huntington’s. Each cause of dementia causes damage to a different set of brain cells.Alzheimer’s disease is responsible for about 50 to 70 percent of all cases of dementia.
Other causes of dementia include:
- infections, such as HIV
- vascular diseases
- stroke
- depression
- chronic drug use
Part 3 of 6
Alzheimer’s disease
Dementia is the term applied to a group of symptoms that negatively impact
memory, but Alzheimer’s is a progressive disease of the brain that slowly
causes impairment in memory and cognitive function. The exact cause is unknown
and no cure is available.
The National Institutes of Health estimate that more than 5 million people in the United States have Alzheimer’s disease. Although younger people can and do get Alzheimer’s, the symptoms generally begin after age 60.
The time from diagnosis to death can be as little as three years in people over 80 years old. However, it can be much longer for younger people.
It’s impossible to diagnose Alzheimer’s with complete accuracy while a person is alive. The diagnosis can only be confirmed when the brain is examined under a microscope during an autopsy. However, specialists are able to make the correct diagnosis up to 90 percent of the time.
The National Institutes of Health estimate that more than 5 million people in the United States have Alzheimer’s disease. Although younger people can and do get Alzheimer’s, the symptoms generally begin after age 60.
The time from diagnosis to death can be as little as three years in people over 80 years old. However, it can be much longer for younger people.
The effects of Alzheimer’s on the brain
Damage to the brain begins years before symptoms appear. Abnormal protein deposits form plaques and tangles in the brain of someone with Alzheimer’s disease. Connections between cells are lost, and they begin to die. In advanced cases, the brain shows significant shrinkage.It’s impossible to diagnose Alzheimer’s with complete accuracy while a person is alive. The diagnosis can only be confirmed when the brain is examined under a microscope during an autopsy. However, specialists are able to make the correct diagnosis up to 90 percent of the time.
Part 4 of 6
Alzheimer’s vs. dementia symptoms
The symptoms of
Alzheimer’s and dementia can overlap, but there can be some differences.
Both conditions can cause:
People with dementia due to Parkinson’s or Huntington’s disease are more likely to experience involuntary movement in the early stages of the disease.
Both conditions can cause:
- a decline in the ability to think
- memory impairment
- communication impairment
- difficulty remembering recent events or conversations
- apathy
- depression
- impaired judgment
- disorientation
- confusion
- behavioral changes
- difficulty speaking, swallowing, or walking in advanced stages of the disease
People with dementia due to Parkinson’s or Huntington’s disease are more likely to experience involuntary movement in the early stages of the disease.
Part 5 of 6
Treating dementia vs. treating Alzheimer’s
Treatment for dementia will depend on the exact cause and type of dementia, but
many treatments for dementia and Alzheimer’s will overlap.
For example, doctors often treat dementia caused by Parkinson’s disease and LBD with cholinesterase inhibitors that they also often use to treat Alzheimer’s.
Treatment for vascular dementia will focus on preventing further damage to the brain’s blood vessels and preventing stroke.
People with dementia can also benefit from supportive services from home health aides and other caregivers. An assisted living facility or nursing home may be necessary as the disease progresses.
Alzheimer’s treatment
No cure for Alzheimer’s is available, but options to help manage symptoms of the disease include:- medications for behavioral changes, such as antipsychotics
- medications for memory loss, which include cholinesterase inhibitors donepezil (Aricept) and rivastigmine (Exelon) and memantine (Namenda)
- alternative remedies that aim to boost brain function or overall health, such as coconut oil or fish oil
- medications for sleep changes
- medications for depression
Dementia treatment
In some cases, treating the condition that causes dementia may help. Conditions most likely to respond to treatment include dementia due to:- drugs
- tumors
- metabolic disorders
- hypoglycemia
For example, doctors often treat dementia caused by Parkinson’s disease and LBD with cholinesterase inhibitors that they also often use to treat Alzheimer’s.
Treatment for vascular dementia will focus on preventing further damage to the brain’s blood vessels and preventing stroke.
People with dementia can also benefit from supportive services from home health aides and other caregivers. An assisted living facility or nursing home may be necessary as the disease progresses.
Part 6 of 6
Outlook for people with dementia vs. people with Alzheimer’s
The outlook for people with dementia depends entirely on the direct cause of
the dementia. Treatments are available to make symptoms of dementia due to
Parkinson’s manageable, but there isn’t currently a way to stop or even slow
down the related dementia. Vascular dementia can be slowed down in some cases, but
it still shortens a person’s lifespan. Some types of dementia are reversible, but
most types are irreversible and will instead cause more impairment over time.
Alzheimer’s is a terminal illness, and no cure is currently available. The length of time each of the three stages lasts varies. The average person diagnosed with Alzheimer’s has an estimated lifespan of approximately four to eight years after diagnosis, but some people can live with Alzheimer’s for up to 20 years.
Talk to your doctor if you’re concerned that you have the symptoms of dementia or Alzheimer’s disease. Starting treatment promptly can help you manage your symptoms.
Alzheimer's disease is the most common type of dementia, affecting an estimated 850,000 people in the UK.
Dementia is a progressive neurological disease which affects multiple brain functions, including memory.
The exact cause of Alzheimer's disease is unknown, although a number of things are thought to increase your risk of developing the condition. These include:
Read more about the causes of Alzheimer's disease.
The first sign of Alzheimer's disease is usually minor memory problems. For example, this could be forgetting about recent conversations or events, and forgetting the names of places and objects.
As the condition develops, memory problems become more severe and further symptoms can develop, such as:
The risk of Alzheimer's disease and other types of dementia increases with age, affecting an estimated 1 in 14 people over the age of 65 and 1 in every 6 people over the age of 80.
However, around 1 in every 20 cases of Alzheimer's disease affects people aged 40 to 65.
However, a timely diagnosis of Alzheimer's disease can give you the best chance to prepare and plan for the future, as well as receive any treatment or support that may help.
If you're worried about your memory or think you may have dementia, it's a good idea to see your GP. If you're worried about someone else, you should encourage them to make an appointment and perhaps suggest that you go along with them.
There's no single test that can be used to diagnose Alzheimer's disease. Your GP will ask questions about any problems you are experiencing and may do some tests to rule out other conditions.
If Alzheimer's disease is suspected, you may be referred to a specialist memory service to:
Various other types of support are also available to help people with Alzheimer's live as independently as possible, such as making changes to your home environment so it's easier to move around and remember daily tasks.
Psychological treatments such as cognitive stimulation therapy may also be offered to help support your memory, problem solving skills and language ability.
Read more about treating Alzheimer's disease.
Alzheimer's disease is a life-limiting illness, although many people diagnosed with the condition will die from another cause.
As Alzheimer’s disease is a progressive neurological condition, it can cause problems with swallowing. This can lead to aspiration (food being inhaled into the lungs) which can cause frequent chest infections. It's also common for people with Alzheimer’s disease to eventually have difficulty eating and to have a reduced appetite.
There's increasing awareness that people with Alzheimer’s disease need palliative care. This includes support for families, as well as the person with Alzheimer's.
Rosemary Navarro was living in Mexico when her brother called from California.
Something wasn't right with their mom, then in her early 40s. She was having trouble paying bills and keeping jobs as a food preparer in convalescent homes.
Navarro, then 22, sold her furniture to pay for a trip back to the U.S. for herself and her two young children. Almost as soon as she arrived, she knew her mother wasn't the same person. "She was there but sometimes she wasn't there," she said. "I thought, 'Oh, man, this isn't going to be good.' "
Before long, Navarro was feeding her mom, then changing her diapers. She put a special lock on the door to keep her from straying outside. Unable to continue caring for her, Navarro eventually moved her mom to a nursing home, where she spent eight years.
Near the end, her mom, a quiet woman who had immigrated to the U.S. as a teenager and loved telenovelas, could communicate only by laughing or crying. Navarro was there when she took her last breath in 2009, at age 53. "What I went through with my mom I wouldn't wish on anyone," she said.
It has happened again and again in her family — relatives struck by the same terrible disease, most without any clue what it was. An aunt, an uncle, a cousin, a grandfather, a great-grandfather. "Too many have died," Navarro said. All in their early 50s.
Now the family knows the reason for their curse: It's a rare type of early-onset Alzheimer's disease, caused by what's come to be known as the "Jalisco" genetic mutation. Doctors today can tell someone they have it, but they can't stop its destructive march.
For Navarro, watching her relatives succumb is like looking into a
crystal ball, one she wants to hurl across the room. She, too, has the
mutation.
It's getting harder to stifle her fear. This year, she turned 40 — the same age her mother was when she started wandering off and forgetting simple things.
"I don't look forward to birthdays," she said. "I didn't want to celebrate 40, much less 41."
Sparing the next generation
Navarro, who lives in La Habra, Calif., belongs to an exclusive but unenviable club whose members are genetically programmed for early memory loss and death.
Of the more than 5 million people across the U.S. who have Alzheimer's, 5 percent are believed to have the early-onset form, striking people under the age of 65. Fewer still — about 1 percent — have genetic mutations that are known to cause the disease.
Navarro's gene is known as the Jalisco mutation because it is believed to have surfaced first in that Mexican state. Over time, it likely was carried by immigrants across the Mexican border into California and other states. In Mexico and the U.S., roughly 50 families are known to have it.
Cases like Navarro's are of great interest to Alzheimer's researchers. Studying this unique population with genetic mutations, they say, could help unlock some of the biggest mysteries of the more common form of the disease: How does it develop? How can it be diagnosed earlier? What can be done to stop it?
Ordinarily, it's difficult — if not impossible — to predict Alzheimer's. But with these families, researchers know the mutation carriers will get the disease. They also know approximately when symptoms will appear. So they can get a real-time look at how the disease develops — and can measure when the brain starts changing relative to expected onset. Perhaps most important, they can design drugs to target the disease before patients lose their memory.
"If you know from age 18 or even from birth whether someone is going to develop the disease or not, you have got a big window to intervene," Navarro's doctor, John Ringman, a neurology professor at the Keck School of Medicine of the University of Southern California. "We don't have a way to repair or bring back lost brain cells."
Patients with a familial Alzheimer's mutation "are sort of a model for how the disease progresses, because they are easier to recognize and easier to study," said Bruce Miller, a longtime Alzheimer's researcher who directs the memory and aging center at the University of California, San Francisco.
Around the world, hundreds of people whose families are afflicted with a variety of early-onset mutations are subjecting themselves to medical tests — spinal taps, memory quizzes, MRIs and other brain imaging, hoping scientists can develop therapies to prevent and treat Alzheimer's.
But their participation often comes with the sad realization that resulting treatments may come too late for them. Ringman is studying about 100 patients at USC. Navarro is among about 30 with the Jalisco mutation.
More than 450 people are part of an international network of research being led by Washington University School of Medicine in St. Louis. Each has a parent with an early-onset gene mutation. If the research doesn't help them, they tell researchers, maybe it will help the next generation.
"They are all desperately fearful that they themselves have inherited a mutation," said John C. Morris, director of the school's Alzheimer's Disease Research Center. "But what they are really fearful about is that if they did, that they will pass it along to their children."
Children have a 50 percent chance of inheriting the mutation from a parent who carries it.
Navarro, whose children are now young adults, is well aware of the statistics. She has joined the network's research effort, of which Ringman is a part.
In 2014, she went for a brain scan. She had no overt symptoms, but the results told a different story. Her brain had already started to shrink — a sign that the disease was taking hold.
"At least we know now"
In November 2015, Ringman drove to Colton, Calif. — 60 miles east of Los Angeles — to meet with the large and close-knit Kitchen family. Jay Kitchen and his younger brother John were referred to him after each suffered a series of baffling symptoms.
It had started about four years earlier. Jay, then a 44-year-old sportswriter, began having difficulty speaking. He felt off-balance, was forgetting things and was having difficulty paying bills.
Soon afterward, his younger brother, John, a high school history teacher, started becoming easily confused. He would forget what day it was and how to get to the market.
Alzheimer's disease is a form of dementia that causes a slow,
continual decline in memory, thinking, and other cognitive functions.
During the final stage of the disease — known as severe or late-stage Alzheimer's disease — people are unable to respond to their environment, communicate, or perform basic daily activities. They're fully reliant on others for their care.
Cholinesterase inhibitors are thought help with Alzheimer's symptoms by preventing the breakdown of acetylcholine, a neurotransmitter (chemical messenger) in the brain that's believed to be important for memory and thinking.
But since the brain produces less acetylcholine as Alzheimer's disease progresses, these drugs eventually lose their effect.
These drugs can cause gastrointestinal side effects, such as nausea and vomiting, loss of appetite, and frequent bowel movements.
Namenda is an N-methyl D-aspartate (NMDA) antagonist that's prescribed for severe Alzheimer's. It works by regulating another neurotransmitter called glutamate.
Although it's important for learning and memory, glutamate in excessive amounts — such as in brains with Alzheimer's disease — can cause cell damage and death. Namenda helps prevent this from happening.
Side effects of Namenda include headache, constipation, confusion, and dizziness.
Namzaric is a combination of a cholinesterase inhibitor and an NMDA antagonist, and it's used to treat severe Alzheimer's.
Aricept is the only drug approved to treat all stages of Alzheimer's disease.
Other medications — including antidepressants, anticonvulsants, antipsychotics, anti-anxiety drugs, and sleep aids — are sometimes prescribed to treat the behavioral problems associated with Alzheimer's disease, such as depression, anxiety, insomnia, and aggression.
Alzheimer's disease affects people in a range of ways that may
compromise their safety. For instance, people with the disease may:
Among people who are 70 years old, only 30 percent are expected to die before they turn 80 if they don't have Alzheimer's.
But this number jumps to 61 percent for people with Alzheimer's, according to a 2014 report in the journal Alzheimer's & Dementia.
According to the Centers for Disease Control and Prevention (CDC), Alzheimer's disease is the fifth leading cause of death in the United States among people ages 65 and older — and the fifth leading cause of death overall.
These treatments typically focus on targeting amyloid plaques and tau protein tangles in the brain, two hallmark brain anomalies in the disease. Some drugs being investigated are solanezumab, aducanumab, and AADvac1.
Some potential drug therapies are being developed to deal with
other anomalies associated with Alzheimer's, including inflammation, insulin resistance, and Beta-secretase, an enzyme involved in amyloid plaque formation.
Other treatments use non-pharmacological approaches to try to rid people of Alzheimer's.
For example, a 2015 study in Science Translational Medicine found that treatment with scanning ultrasounds could remove amyloid plaques from the brains of 75 percent of mice.
Alzheimer’s is a terminal illness, and no cure is currently available. The length of time each of the three stages lasts varies. The average person diagnosed with Alzheimer’s has an estimated lifespan of approximately four to eight years after diagnosis, but some people can live with Alzheimer’s for up to 20 years.
Talk to your doctor if you’re concerned that you have the symptoms of dementia or Alzheimer’s disease. Starting treatment promptly can help you manage your symptoms.
Alzheimer's disease is the most common type of dementia, affecting an estimated 850,000 people in the UK.
Dementia is a progressive neurological disease which affects multiple brain functions, including memory.
The exact cause of Alzheimer's disease is unknown, although a number of things are thought to increase your risk of developing the condition. These include:
- increasing age
- a family history of the condition
- previous severe head injuries
- lifestyle factors and conditions associated with cardiovascular disease
Read more about the causes of Alzheimer's disease.
Signs and symptoms of Alzheimer's disease
Alzheimer's disease is a progressive condition, which means the symptoms develop gradually and become more severe over the course of several years. It affects multiple brain functions.The first sign of Alzheimer's disease is usually minor memory problems. For example, this could be forgetting about recent conversations or events, and forgetting the names of places and objects.
As the condition develops, memory problems become more severe and further symptoms can develop, such as:
- confusion, disorientation and getting lost in familiar places
- difficulty planning or making decisions
- problems with speech and language
- problems moving around without assistance or performing self-care tasks
- personality changes, such as becoming aggressive, demanding and suspicious of others
- hallucinations (seeing or hearing things that aren't there) and delusions (believing things that are untrue)
- low mood or anxiety
Who is affected?
Alzheimer's disease is most common in people over the age of 65, and affects slightly more women than men.The risk of Alzheimer's disease and other types of dementia increases with age, affecting an estimated 1 in 14 people over the age of 65 and 1 in every 6 people over the age of 80.
However, around 1 in every 20 cases of Alzheimer's disease affects people aged 40 to 65.
Receiving a diagnosis
As the symptoms of Alzheimer's disease progress slowly, it can be difficult to recognise that there's a problem. Many people feel that memory problems are simply a part of getting older.However, a timely diagnosis of Alzheimer's disease can give you the best chance to prepare and plan for the future, as well as receive any treatment or support that may help.
If you're worried about your memory or think you may have dementia, it's a good idea to see your GP. If you're worried about someone else, you should encourage them to make an appointment and perhaps suggest that you go along with them.
There's no single test that can be used to diagnose Alzheimer's disease. Your GP will ask questions about any problems you are experiencing and may do some tests to rule out other conditions.
If Alzheimer's disease is suspected, you may be referred to a specialist memory service to:
- discuss the process of making the diagnosis
- organise testing
- create a treatment plan
How Alzheimer's disease is treated
There's no cure for Alzheimer's disease, but medication is available that can help relieve some of the symptoms and slow down the progression of the condition in some people.Various other types of support are also available to help people with Alzheimer's live as independently as possible, such as making changes to your home environment so it's easier to move around and remember daily tasks.
Psychological treatments such as cognitive stimulation therapy may also be offered to help support your memory, problem solving skills and language ability.
Read more about treating Alzheimer's disease.
Outlook
On average, people with Alzheimer's disease live for around 8 to 10 years after they start to develop symptoms. However, this can vary considerably from person to person. Some people with the condition will live longer than this, but others will not.Alzheimer's disease is a life-limiting illness, although many people diagnosed with the condition will die from another cause.
As Alzheimer’s disease is a progressive neurological condition, it can cause problems with swallowing. This can lead to aspiration (food being inhaled into the lungs) which can cause frequent chest infections. It's also common for people with Alzheimer’s disease to eventually have difficulty eating and to have a reduced appetite.
There's increasing awareness that people with Alzheimer’s disease need palliative care. This includes support for families, as well as the person with Alzheimer's.
Can Alzheimer's disease be prevented?
As the exact cause of Alzheimer's disease isn't clear, there's no known way to prevent the condition. However, there are things you can do that may reduce your risk or delay the onset of dementia, such as:- stopping smoking and cutting down on alcohol
- eating a healthy, balanced diet and maintaining a healthy weight
- staying physically fit and mentally active
Rosemary Navarro was living in Mexico when her brother called from California.
Something wasn't right with their mom, then in her early 40s. She was having trouble paying bills and keeping jobs as a food preparer in convalescent homes.
Navarro, then 22, sold her furniture to pay for a trip back to the U.S. for herself and her two young children. Almost as soon as she arrived, she knew her mother wasn't the same person. "She was there but sometimes she wasn't there," she said. "I thought, 'Oh, man, this isn't going to be good.' "
Before long, Navarro was feeding her mom, then changing her diapers. She put a special lock on the door to keep her from straying outside. Unable to continue caring for her, Navarro eventually moved her mom to a nursing home, where she spent eight years.
Near the end, her mom, a quiet woman who had immigrated to the U.S. as a teenager and loved telenovelas, could communicate only by laughing or crying. Navarro was there when she took her last breath in 2009, at age 53. "What I went through with my mom I wouldn't wish on anyone," she said.
It has happened again and again in her family — relatives struck by the same terrible disease, most without any clue what it was. An aunt, an uncle, a cousin, a grandfather, a great-grandfather. "Too many have died," Navarro said. All in their early 50s.
Now the family knows the reason for their curse: It's a rare type of early-onset Alzheimer's disease, caused by what's come to be known as the "Jalisco" genetic mutation. Doctors today can tell someone they have it, but they can't stop its destructive march.
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It's getting harder to stifle her fear. This year, she turned 40 — the same age her mother was when she started wandering off and forgetting simple things.
"I don't look forward to birthdays," she said. "I didn't want to celebrate 40, much less 41."
Sparing the next generation
Navarro, who lives in La Habra, Calif., belongs to an exclusive but unenviable club whose members are genetically programmed for early memory loss and death.
Of the more than 5 million people across the U.S. who have Alzheimer's, 5 percent are believed to have the early-onset form, striking people under the age of 65. Fewer still — about 1 percent — have genetic mutations that are known to cause the disease.
Navarro's gene is known as the Jalisco mutation because it is believed to have surfaced first in that Mexican state. Over time, it likely was carried by immigrants across the Mexican border into California and other states. In Mexico and the U.S., roughly 50 families are known to have it.
Cases like Navarro's are of great interest to Alzheimer's researchers. Studying this unique population with genetic mutations, they say, could help unlock some of the biggest mysteries of the more common form of the disease: How does it develop? How can it be diagnosed earlier? What can be done to stop it?
Ordinarily, it's difficult — if not impossible — to predict Alzheimer's. But with these families, researchers know the mutation carriers will get the disease. They also know approximately when symptoms will appear. So they can get a real-time look at how the disease develops — and can measure when the brain starts changing relative to expected onset. Perhaps most important, they can design drugs to target the disease before patients lose their memory.
"If you know from age 18 or even from birth whether someone is going to develop the disease or not, you have got a big window to intervene," Navarro's doctor, John Ringman, a neurology professor at the Keck School of Medicine of the University of Southern California. "We don't have a way to repair or bring back lost brain cells."
Patients with a familial Alzheimer's mutation "are sort of a model for how the disease progresses, because they are easier to recognize and easier to study," said Bruce Miller, a longtime Alzheimer's researcher who directs the memory and aging center at the University of California, San Francisco.
Around the world, hundreds of people whose families are afflicted with a variety of early-onset mutations are subjecting themselves to medical tests — spinal taps, memory quizzes, MRIs and other brain imaging, hoping scientists can develop therapies to prevent and treat Alzheimer's.
But their participation often comes with the sad realization that resulting treatments may come too late for them. Ringman is studying about 100 patients at USC. Navarro is among about 30 with the Jalisco mutation.
More than 450 people are part of an international network of research being led by Washington University School of Medicine in St. Louis. Each has a parent with an early-onset gene mutation. If the research doesn't help them, they tell researchers, maybe it will help the next generation.
"They are all desperately fearful that they themselves have inherited a mutation," said John C. Morris, director of the school's Alzheimer's Disease Research Center. "But what they are really fearful about is that if they did, that they will pass it along to their children."
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Big Financial Costs Are Part Of Alzheimer's Toll On Families
Navarro, whose children are now young adults, is well aware of the statistics. She has joined the network's research effort, of which Ringman is a part.
In 2014, she went for a brain scan. She had no overt symptoms, but the results told a different story. Her brain had already started to shrink — a sign that the disease was taking hold.
"At least we know now"
In November 2015, Ringman drove to Colton, Calif. — 60 miles east of Los Angeles — to meet with the large and close-knit Kitchen family. Jay Kitchen and his younger brother John were referred to him after each suffered a series of baffling symptoms.
It had started about four years earlier. Jay, then a 44-year-old sportswriter, began having difficulty speaking. He felt off-balance, was forgetting things and was having difficulty paying bills.
Soon afterward, his younger brother, John, a high school history teacher, started becoming easily confused. He would forget what day it was and how to get to the market.
There's no cure right now for Alzheimer's disease, but some medications may help with symptoms.
During the final stage of the disease — known as severe or late-stage Alzheimer's disease — people are unable to respond to their environment, communicate, or perform basic daily activities. They're fully reliant on others for their care.
Although there's no cure for Alzheimer's disease,
nor are there therapies that can stop the disease from progressing to
late-stage, treatment may help delay some symptoms and improve quality
of life.
Alzheimer's Medications
There are five drugs approved to treat Alzheimer's symptoms:- Aricept (donepezil)
- Razadyne (galantamine)
- Exelon (rivastigmine)
- Namenda (memantine)
- Namzaric (donepezil and memantine)
Cholinesterase inhibitors are thought help with Alzheimer's symptoms by preventing the breakdown of acetylcholine, a neurotransmitter (chemical messenger) in the brain that's believed to be important for memory and thinking.
But since the brain produces less acetylcholine as Alzheimer's disease progresses, these drugs eventually lose their effect.
These drugs can cause gastrointestinal side effects, such as nausea and vomiting, loss of appetite, and frequent bowel movements.
Namenda is an N-methyl D-aspartate (NMDA) antagonist that's prescribed for severe Alzheimer's. It works by regulating another neurotransmitter called glutamate.
Although it's important for learning and memory, glutamate in excessive amounts — such as in brains with Alzheimer's disease — can cause cell damage and death. Namenda helps prevent this from happening.
Side effects of Namenda include headache, constipation, confusion, and dizziness.
Namzaric is a combination of a cholinesterase inhibitor and an NMDA antagonist, and it's used to treat severe Alzheimer's.
Aricept is the only drug approved to treat all stages of Alzheimer's disease.
Other medications — including antidepressants, anticonvulsants, antipsychotics, anti-anxiety drugs, and sleep aids — are sometimes prescribed to treat the behavioral problems associated with Alzheimer's disease, such as depression, anxiety, insomnia, and aggression.
Alzheimer's Care
- Forget to turn off the oven
- Forget which medications and products in the home are dangerous
- Lose their sense of time and place, such as not recognizing areas in the home, getting lost while on their own home street, or wandering away from home
- Have impaired judgement, such as using household appliances improperly
- Become more easily confused, suspicious, or fearful
- Develop impaired senses
- Installing smoke and carbon monoxide alarms throughout the home, safety knobs and a shut-off switch on the stove, childproof plugs on unused electrical outlets, and sturdy handrails in stairways and bathtubs
- Locking up or removing guns and other dangerous weapons, medications, cleaning products, gasoline cans, and alcohol
- Removing trip hazards, such as coffee tables, newspaper or magazine piles, throw rugs, and unnecessary furniture
- Keeping the home well lit
- Placing easy-to-read signs with simple instructions around the house to serve as a daily guide on how to do things, where to go, or what dangers to avoid
- Painting walls and floors different colors to create a contrast that's easy to see
- Removing curtains and other items with busy designs that may cause confusion
- Testing all water to make sure it's below 120 degrees F
- Frequently checking for spoiled food
- Locking up scented products (such as toothpaste) that may be mistaken for food
- Keeping noise and music to a minimum
Alzheimer's Life Expectancy
Alzheimer's disease reduces a person's life expectancy.Among people who are 70 years old, only 30 percent are expected to die before they turn 80 if they don't have Alzheimer's.
But this number jumps to 61 percent for people with Alzheimer's, according to a 2014 report in the journal Alzheimer's & Dementia.
According to the Centers for Disease Control and Prevention (CDC), Alzheimer's disease is the fifth leading cause of death in the United States among people ages 65 and older — and the fifth leading cause of death overall.
Is There an Alzheimer's Cure?
As previously mentioned, there's no cure for Alzheimer's disease. But researchers are investigating several promising new treatments.These treatments typically focus on targeting amyloid plaques and tau protein tangles in the brain, two hallmark brain anomalies in the disease. Some drugs being investigated are solanezumab, aducanumab, and AADvac1.
Other treatments use non-pharmacological approaches to try to rid people of Alzheimer's.
For example, a 2015 study in Science Translational Medicine found that treatment with scanning ultrasounds could remove amyloid plaques from the brains of 75 percent of mice.
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