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Don’t fight Early-onset, autosomal dominant Alzheimer disease alone.
Find your community on the free RareGuru App.Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially.
There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes:
(1) Alzheimer disease, type 1 is caused by mutations in the
APP gene
(2) Alzheimer disease, type 3 is caused by mutations in the
PSEN1 gene
(3) Alzheimer disease, type 4 is caused by mutations in the
PSEN2 gene.
All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
Early-onset, autosomal dominant Alzheimer disease is diagnosed in families that have more than one member with AD in which the age of onset is before age 60 to 65 years. Genetic testing and identification of a mutation in one of the implicated genes ( PSEN1 , APP , or PSEN2) in an affected family member can assist in confirming the diagnosis. Not all families with early-onset, autosomal dominant Alzheimer disease are found to have mutations in one of the three known genes; therefore there may be other genes involved that have not yet been reported.
Last updated on 05-01-20
Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with this condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated on 05-01-20
Unfortunately, there is no cure for Alzheimer disease in general; however, there are medications that may assist in temporarily helping with memory and thinking problems, such as Exelon, Galantamine, and Aricept. Physical and occupational therapy can be helpful in managing problems with walking and activities of daily living. Depression and seizures may be treated with appropriate medications.
Last updated on 05-01-20
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