Legendary women’s basketball coach Pat Summitt has lost her battle with early onset dementia, “Alzheimer’s Type.”. The 64-year-old, who built the University of Tennessee’s Lady Volunteers into one of the sports powerhouse teams passed away yesterday. Summitt has been called the “winningest coach in the history of major college basketball”, with eight NCAA championships, as well as leading the Lady Vols to 1,098 victories.
Summitt also won an Olympic Gold medal as head coach of the 1984 U.S. women’s basketball team, and was named the Naismith Basketball Coach of the Century in April 2000.
Her son, Tyler Summitt, said that his mother battled the disease with “fierce determination just as she did with every opponent she ever faced. Even though it’s incredibly difficult to come to terms that she is no longer with us, we can all find peace in knowing she no longer carries the heavy burden of this disease.”
Diagnosed with early onset dementia in 2011, she retired in 2012, eight months after that diagnosis. But despite this, Pat and Tyler went on to found the Pat Summitt Foundation to help find a cure for Alzheimer’s Disease. The organization awards grants to organizations that provide:
Early-onset Alzheimer’s disease occurs in people age 30 to 60. It is rare, representing less than 5 percent of all people who have Alzheimer’s. People with this disorder are younger than those with late-onset Alzheimer’s and face different issues, such as dealing with disability at work, raising children, and finding the right support groups.
Source: National Institute on Aging
Alzheimer’s disease is an irreversible, progressive brain disease that slowly destroys memory and thinking skills, and eventually even the ability to carry out the simplest tasks. In most people with Alzheimer’s, symptoms first appear after age 65. Estimates vary, but experts suggest that as many as 5 million Americans age 65 and older may have Alzheimer’s disease. In addition, there are approximately 200,000 individuals younger than age 65 who have younger-onset Alzheimer’s.
Alzheimer’s disease is the most common cause of dementia among older people. Dementia is the loss of cognitive functioning—thinking, remembering, and reasoning—and behavioral abilities, to such an extent that it interferes with a person’s daily life and activities. Dementia ranges in severity from the mildest stage, when it is just beginning to affect a person’s functioning, to the most severe stage, when the person must depend completely on others for basic activities of daily living.
Although we still don’t know how the Alzheimer’s disease process begins, it seems likely that damage to the brain starts a decade or more before problems become evident. During the preclinical stage of Alzheimer’s disease, people are free of symptoms but toxic changes are taking place in the brain. Abnormal deposits of proteins form amyloid plaques and tau tangles throughout the brain, and once-healthy neurons begin to work less efficiently. Over time, neurons lose their ability to function and communicate with each other, and eventually they die.
Before long, the damage spreads to a nearby structure in the brain called the hippocampus, which is essential in forming memories. As more neurons die, affected brain regions begin to shrink. By the final stage of Alzheimer’s, damage is widespread, and brain tissue has shrunk significantly.
Memory problems are typically one of the first warning signs of cognitive loss, possibly due to the development of Alzheimer’s disease. Some people with memory problems have a condition called amnestic mild cognitive impairment (MCI). People with this condition have more memory problems than normal for people their age, but their symptoms are not as severe as those seen in people with Alzheimer’s disease. Other recent studies have found links between some movement difficulties and MCI. Researchers also have seen links between MCI and some problems with the sense of smell. The ability of people with MCI to perform normal daily activities is not significantly impaired. However, more older people with MCI, compared with those without MCI, go on to develop Alzheimer’s.
A decline in other aspects of cognition, such as word-finding, vision/spatial issues, and impaired reasoning or judgment, may also signal the very early stages of Alzheimer’s disease. Scientists are looking to see whether brain imaging and biomarker studies, for example, of people with MCI and those with a family history of Alzheimer’s, can detect early changes in the brain like those seen in Alzheimer’s. Initial studies indicate that early detection using biomarkers and imaging may be possible, but findings will need to be confirmed by other studies before these techniques can be used to help with diagnosis in everyday medical practice.
These and other studies offer hope that someday we may have tools that could help detect Alzheimer’s early, track the course of the disease, and monitor response to treatments.
Early-onset Alzheimer’s disease occurs in people age 30 to 60 and represents less than 5 percent of all people with Alzheimer’s. Most cases are caused by an inherited change in one of three genes, resulting in a type known as early-onset familial Alzheimer’s disease, or FAD. For others, the disease appears to develop without any specific, known cause.
A child whose biological mother or father carries a genetic mutation for early-onset FAD has a 50/50 chance of inheriting that mutation. If the mutation is in fact inherited, the child has a very strong probability of developing early-onset FAD.
Early-onset FAD is caused by any one of a number of different single-gene mutations on chromosomes 21, 14, and 1. Each of these mutations causes abnormal proteins to be formed. Mutations on chromosome 21 cause the formation of abnormal amyloid precursor protein (APP). A mutation on chromosome 14 causes abnormal presenilin 1 to be made, and a mutation on chromosome 1 leads to abnormal presenilin 2.
Each of these mutations plays a role in the breakdown of APP, a protein whose precise function is not yet fully understood. This breakdown is part of a process that generates harmful forms of amyloid plaques, a hallmark of the disease.
Critical research findings about early-onset Alzheimer’s have helped identify key steps in the formation of brain abnormalities typical of the more common late-onset form of Alzheimer’s. Genetics studies have helped explain why the disease develops in people at various ages.
NIA-supported scientists are continuing research into early-onset disease through the Dominantly Inherited Alzheimer Network (DIAN), an international partnership to study families with early-onset FAD. By observing the Alzheimer’s-related brain changes that occur in these families long before symptoms of memory loss or cognitive issues appear, scientists hope to gain insight into how and why the disease develops in both its early- and late-onset forms.
In addition, an NIA-supported clinical trial in Colombia, South America, is testing the effectiveness of an amyloid-clearing drug in symptom-free volunteers at high risk of developing early-onset FAD.
For more information, see NIA’s Early-Onset Alzheimer’s Disease: A Resource List.