Rare Ophthalmology News

Disease Profile

Early-onset, autosomal dominant Alzheimer disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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ICD-10

G30.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Early-onset autosomal dominant Alzheimer disease;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

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.[1][2] 

There are three subtypes of early-onset familial AD which are each associated with changes (mutations) in unique genes:[1][2]

(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.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal social behavior
Abnormal social behaviour
0012433
Agitation
0000713
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Confusion
Disorientation
Easily confused
Mental disorientation

[ more ]

0001289
Deposits immunoreactive to beta-amyloid protein
0003791
Hallucinations
Hallucination
Sensory hallucination

[ more ]

0000738
Hypertonia
0001276
Language impairment
0002463
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Myoclonus
0001336
Neurofibrillary tangles
0002185
Parkinsonism
0001300
Seizure
0001250
30%-79% of people have these symptoms
Disinhibition
0000734
5%-29% of people have these symptoms
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Aphasia
Difficulty finding words
Losing words
Loss of words

[ more ]

0002381
Ataxia
0001251
Dysgraphia
0010526
Finger agnosia
0010525
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Oculomotor apraxia
0000657
Semantic dementia
0030219

Diagnosis

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.[1]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    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.[1]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The Alzheimer's Association provides information on the genetics of Alzheimer disease, including information on Early-onset, autosomal dominant Alzheimer disease
      • Genetics Home Reference (GHR) contains information on Early-onset, autosomal dominant Alzheimer disease. This website is maintained by the National Library of Medicine.
      • The National Institute on Aging (NIA) leads a national program of research on the biomedical, social, and behavioral aspects of the aging process; the prevention of age-related diseases and disabilities; and the promotion of a better quality of life for all older Americans. Click on the link to view information on this topic.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Early-onset, autosomal dominant Alzheimer disease. Click on the link to view a sample search on this topic.

          References

          1. Bird TD. Early-Onset Familial Alzheimer Disease. GeneReviews. October 2012; https://www.ncbi.nlm.nih.gov/books/NBK1236/.
          2. Sherva N & Kowall NW. Genetics of Alzheimer disease. UpToDate. 2016; https://www.uptodate.com/contents/genetics-of-alzheimer-disease.

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