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Alzheimer disease, familial



Alzheimer disease, familial Clinical Features


Alzheimer disease usually occurs in old age. It is the most common form of dementia and invariably fatal after ten years of the first symptoms. The earliest sign of AD is unusual memory loss, particularly in recent memories, new events and names of people. As AD progresses, patients develop more serious problems, such as mood swings and inability to perform complex activities, such as writing. However, during the later stages of Alzheimer disease, the patients completely forget how to do simple things, such as taking a bath. Familial Alzheimer disease is a very rare form of Alzheimer’s that develop earlier in life, before 65 years of age. While incidents of FAD occurring before 50 are even rarer, these types of condition occur. There are several types of early-onset or familial AD. These are identified by the patient’s genetics and other characteristics present, such as age of patient during onset. Familial Alzheimer’s disease is usually indistinguishable from other types of the disease. However, amyloid deposits can be seen in the sections of brain tissue, which are visible under polarized light. These amyloid proteins form plaques, while the neurofibrillary tangle the process onto the memory centers of the brain. In very rare cases, the plaque may be uncharacteristic of Alzheimer’s, which only happen when a mutation in of the genes occur. As a result, a malformed, yet functional, protein is formed instead of ineffective genes that normally result during mutations.


Alzheimer disease, familial Definition


Familial Alzheimer's disease (FAD) is a very rare form of Alzheimer's disease that affects people aged 20 to 65. This condition is inherited in an “autosomal dominant fashion”. As its name suggest, Familial AD occurs in patients with 2 or more first-degree relatives with AD history. However, only 5% of the total Alzheimer's disease account to familial AD. Emil Kraepelin first identified the symptoms of FAD, while Alois Alzheimer observed the characteristic neuropathology of FAD in 1906.


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