Alzheimer Disease, Familial, 1 (AD1)

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Disease Ontology 11 DOID:10652 OMIM® 57 104300 ICD9CM 34 331.0 MeSH 43 D000544 NCIt 49 C2866 SNOMED-CT 68 73768007

ICD10 31 F00 F00.0 F00.1 F00.9 G30 G30.0 G30.1 G30.9 more MedGen 40 C0002395 C1541844 C1863052 C1863053 C3549448 more SNOMED-CT via HPO 69 230267005 26929004 32798002 38551001 52448006 85775002 more EFO 16 EFO_1001870 ICD11 33 1611724421 UMLS 71 C0002395 C0276496 C1521724 C2931257 C3665464 more

MedlinePlus Genetics: ⁴² Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease.Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. Death usually results from pneumonia, malnutrition, or general body wasting (inanition).Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer disease.

MalaCards based summary: Alzheimer Disease, Familial, 1, also known as alzheimer disease, is related to alzheimer disease 3 and nervous system disease, and has symptoms including tremor, myoclonus and back pain. An important gene associated with Alzheimer Disease, Familial, 1 is APP (Amyloid Beta Precursor Protein), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and miRNAs involved in DNA damage response. The drugs Levodopa and Rivastigmine have been mentioned in the context of this disorder. Affiliated tissues include Brain, and related phenotypes are dementia and parkinsonism

NINDS: ⁵² Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older. There are three major hallmarks in the brain that are associated with the disease processes of AD. Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly.

PubMed Health : ⁶³ Alzheimer's disease: Alzheimer's disease is the most common cause of dementia. It takes its name from the psychiatrist Alois Alzheimer, who in the early twentieth century was the first person to describe the disease. Over time, people who have Alzheimer’s lose their memory and ability to concentrate. Orientation in space and time become increasingly difficult, and it is also harder for them to manage on their own in everyday life. Those affected need more support as the disease progresses. The course of Alzheimer’s can be positively influenced by a number of different medications and non-drug treatments – but it is not possible to cure the disease or to keep it from progressing. This makes it even more critical for people with Alzheimer’s to receive good care and support: They need loving and stable relationships and a tolerant environment. Many family members need help and assistance too. There are other possible causes of dementia besides Alzheimer’s disease. These include problems with the flow of blood in the brain (vascular dementia). Some people – particularly older people – have both Alzheimer’s and vascular dementia. Medical conditions such as Parkinson’s disease, brain injuries or tumors can also cause dementia. Long-term heavy alcohol consumption may lead to dementia too. There are similarities, but also differences, between the different forms of dementia: The symptoms, the course the disease takes, and the treatment options can all vary. This overview is only about Alzheimer’s.

UniProtKB/Swiss-Prot ⁷³ Alzheimer disease 1: A form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy.

Alzheimer disease: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

MedlinePlus: ⁴¹ Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. AD begins slowly. It first involves the parts of the brain that control thought, memory and language. People with AD may have trouble remembering things that happened recently or names of people they know. A related problem, mild cognitive impairment (MCI), causes more memory problems than normal for people of the same age. Many, but not all, people with MCI will develop AD. In AD, over time, symptoms get worse. People may not recognize family members. They may have trouble speaking, reading or writing. They may forget how to brush their teeth or comb their hair. Later on, they may become anxious or aggressive, or wander away from home. Eventually, they need total care. This can cause great stress for family members who must care for them. AD usually begins after age 60. The risk goes up as you get older. Your risk is also higher if a family member has had the disease. No treatment can stop the disease. However, some drugs may help keep symptoms from getting worse for a limited time. NIH: National Institute on Aging

OMIM®: ⁵⁷ Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT). Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. (104300) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.

CDC: ² The most common type of dementia. A progressive disease beginning with mild memory loss possibly leading to loss of the ability to carry on a conversation and respond to the environment. Involves parts of the brain that control thought, memory, and language. Can seriously affect a person's ability to carry out daily activities. Although scientists are learning more every day, right now, they still do not know what causes Alzheimer's disease.

Wikipedia: ⁷⁵ Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively... more...

GeneReviews: NBK1161

Clinical features from OMIM®:

104300 (Updated 08-Dec-2022)

People who have Alzheimer’s need long-term help and treatment . Depending on their needs, their life situation and the stage of disease, a whole team of people may be involved in providing care. These could include trained doctors, psychologists, nurses and social workers, as well as volunteers. Both treatment with medications and non-drug interventions aim to increase quality of life, keep the ability to do everyday tasks and stay independent for as long as possible, reduce mental health problems, and help family members to cope better. The most common medications used to treat Alzheimer’s disease include cholinesterase inhibitors , memantine and extracts from the leaves of the Ginkgo biloba tree. Examples of non-drug treatments include memory and orientation training, doing everyday activities as a group, or art therapy , aromatherapy , and animal-assisted or music therapy. Physical activities and massages can help too. Caregiver training for family members is important too.

Search NIH Clinical Center for Alzheimer Disease, Familial, 1

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