Alzheimer's Disease Familial

Common Name(s)

Alzheimer's Disease Familial

Alzheimer's disease, familial is a progressive condition of the brain that affects memory, thinking, and behavior. While Alzheimer's disease is not always genetic, familial Alzheimer's disease has a specific genetic marker that runs in the family and is passed down through generations (inherited).

So far, three genes have been identified to cause familial Alzheimer's disease: presenilin-1 (PS1), presenilin-2 (PS2) and amyloid precursor protein (APP). Changes in these genes (mutations) lead to two abnormal protein structures ("plaques" which are protein deposits and "tangles" which are twisted protein fibers) in the brain tissue along with the loss of connection between nerve cells in the brain. These changes cause the brain cells to lose normal function. Because these changed genes are inherited, familial Alzheimer's disease may occur earlier than the traditional "late onset" disease (65 or older). Typically, familial Alzheimer's disease onsets in one's 30's, 40’s or 50’s, and rarely sooner.

Symptoms of familial Alzheimer's are similar to those of non-familial Alzheimer's. These include loss of memory, behavioral changes, mood swings, disorientation, confusion, and unnecessary suspicion of family or others over a period of several years. Eventually symptoms progress to an inability to care for him or herself, to eat, or to speak. Diagnosis of this condition is made by examining family history and genetic testing. Almost all individuals with early onset familial Alzheimer's have a parent who had the disease (assuming they lived long enough to develop symptoms). Siblings and children of an affected person likely each have a 50% chance of also developing the condition as well.

There is currently no cure for familial Alzheimer's disease, but medications may help slow the progression, manage the symptoms and improve quality of life. Talk to your doctor or a geneticist if you have a family history of Alzheimer's disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alzheimer's Disease Familial" for support, advocacy or research.

Logo
Alzheimer's Disease Education and Referral Center

The Alzheimer's Disease Education and Referral Center was established by the National Institute on Aging (NIA) to provide information to health professionals, patients and their families and the public about Alzheimer's disease and other memory disorders.

Last Updated: 30 Oct 2014

View Details
Logo
National Endowment for Alzheimer's Research

At NEAR, our mission is to investigate the underlying causes of Alzheimer's and to develop rapid clinical interventions both for Alzheimer's and other brain disorders. A secondary mission is to promote public awareness and education with respect to Alzheimer's disease and related dementia, and to encourage the involvement of individuals, businesses, foundations, and government in finding a cure.

Last Updated: 20 Dec 2012

View Details
stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

Last Updated: 5 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alzheimer's Disease Familial" for support, advocacy or research.

Logo
Alzheimer's Disease Education and Referral Center

The Alzheimer's Disease Education and Referral Center was established by the National Institute on Aging (NIA) to provide information to health professionals, patients and their families and the public about Alzheimer's disease and other memory disorders.

http://www.nia.nih.gov/alzheimers

Last Updated: 30 Oct 2014

View Details
Logo
National Endowment for Alzheimer's Research

At NEAR, our mission is to investigate the underlying causes of Alzheimer's and to develop rapid clinical interventions both for Alzheimer's and other brain disorders. A secondary mission is to promote public awareness and education with respect to Alzheimer's disease and related dementia, and to encourage the involvement of individuals, businesses, foundations, and government in finding a cure.

http://www.memorymatters.org

Last Updated: 20 Dec 2012

View Details
stopcaidnow.org

Our mission is simple-Educate, Provide Awareness, and Fund Researchers who are committed to finding a cure. StopCAIDnow(501c3) is focused on providing tools to better educate Doctor’s and the community on AutoInflammatory diseases. There is a need for an understanding of these diseases so proper diagnosis can be made, and treatment can be started. This will help alleviate the inflammation process, 7 the pain that comes with it. Proper diagnosis is urgent for the prognosis of these diseases. If left untreated damage to the tissues, organs & vision(for some) will not only be irreversible but devastating

http://www.stopcaidnow.org

Last Updated: 5 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alzheimer's Disease Familial" returned 108 free, full-text research articles on human participants. First 3 results:

Abundance of Aβ₅-x like immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer's disease.
 

Author(s): Erika Avendaño Guzmán, Yvonne Bouter, Bernhard C Richard, Lars Lannfelt, Martin Ingelsson, Anders Paetau, Auli Verkkoniemi-Ahola, Oliver Wirths, Thomas A Bayer

Journal:

 

According to the modified amyloid hypothesis the main event in the pathogenesis of Alzheimer's disease (AD) is the deposition of neurotoxic amyloid β-peptide (Aβ) within neurons. Additionally to full-length peptides, a great diversity of N-truncated Aβ variants is derived from ...

Last Updated: 8 Apr 2014

Go To URL
Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis.
 

Author(s): Diego Sepulveda-Falla, Alvaro Barrera-Ocampo, Christian Hagel, Anne Korwitz, Maria Fernanda Vinueza-Veloz, Kuikui Zhou, Martijn Schonewille, Haibo Zhou, Luis Velazquez-Perez, Roberto Rodriguez-Labrada, Andres Villegas, Isidro Ferrer, Francisco Lopera, Thomas Langer, Chris I De Zeeuw, Markus Glatzel

Journal: J. Clin. Invest.. 2014 Apr;124(4):1552-67.

 

Familial Alzheimer's disease (FAD) is characterized by autosomal dominant heritability and early disease onset. Mutations in the gene encoding presenilin-1 (PS1) are found in approximately 80% of cases of FAD, with some of these patients presenting cerebellar damage with amyloid plaques ...

Last Updated: 2 Apr 2014

Go To URL
Lysosomal sorting of amyloid-β by the SORLA receptor is impaired by a familial Alzheimer's disease mutation.
 

Author(s): Safak Caglayan, Shizuka Takagi-Niidome, Fan Liao, Anne-Sophie Carlo, Vanessa Schmidt, Tilman Burgert, Yu Kitago, Ernst-Martin Füchtbauer, Annette Füchtbauer, David M Holtzman, Junichi Takagi, Thomas E Willnow

Journal: Sci Transl Med. 2014 Feb;6(223):223ra20.

 

SORLA/SORL1 is a unique neuronal sorting receptor for the amyloid precursor protein that has been causally implicated in both sporadic and autosomal dominant familial forms of Alzheimer's disease (AD). Brain concentrations of SORLA are inversely correlated with amyloid-β (Aβ) in ...

Last Updated: 13 Feb 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alzheimer's Disease Familial" returned 4 free, full-text review articles on human participants. First 3 results:

Allelic interference: a mechanism for trans-dominant transmission of loss of function in the neurodegeneration of familial Alzheimer's disease.
 

Author(s): Nikolaos K Robakis, Anastasios Georgakopoulos

Journal: Neurodegener Dis. 2014 ;13(2-3):126-30.

 

Presenilins (PSs) are catalytic components of the γ-secretase complexes that promote the ε-cleavage of cell surface proteins producing cytosolic peptides shown to function in cell signaling and gene expression. In addition, secretase cleavages at γ-sites of amyloid precursor protein ...

Last Updated: 7 Feb 2014

Go To URL
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
 

Author(s): Natalie S Ryan, Martin N Rossor

Journal: Biomark Med. 2010 Feb;4(1):99-112.

 

Alzheimer's disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it. A minority of cases occur at a particularly young age and are caused by autosomal dominantly inherited genetic mutations. ...

Last Updated: 13 Apr 2010

Go To URL
Sequence analyses of presenilin mutations linked to familial Alzheimer's disease.
 

Author(s): Sun Don Kim, Jinoh Kim

Journal: Cell Stress Chaperones. 2008 Dec;13(4):401-12.

 

Familial Alzheimer's disease (FAD)-linked presenilin (PS) mutations show gain-of-toxic-function characteristics. These FAD PS mutations are scattered throughout the PS molecule, reminiscent of the distribution of cystic fibrosis transmembrane conductance regulator and p53 mutations. ...

Last Updated: 21 Oct 2008

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Alzheimer's Disease Genetics Study
 

Status: Recruiting

Condition Summary: Alzheimer Disease; Late Onset Alzheimer Disease; Dementia

 

Last Updated: 24 Mar 2015

Go to URL
Sleep Apnea in Early to Mid-Stage Alzheimer's Disease
 

Status: Recruiting

Condition Summary: Early Onset Alzheimer Disease; Alzheimer Disease; Obstructive Sleep Apnea Syndromes

 

Last Updated: 28 Jan 2015

Go to URL