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.

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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

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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

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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

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General Support Organizations

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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

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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

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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

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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 135 free, full-text research articles on human participants. First 3 results:

Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.
 

Author(s): Maria Szaruga, Sarah Veugelen, Manasi Benurwar, Sam Lismont, Diego Sepulveda-Falla, Alberto Lleo, Natalie S Ryan, Tammaryn Lashley, Nick C Fox, Shigeo Murayama, Harrie Gijsen, Bart De Strooper, Lucía Chávez-Gutiérrez

Journal: J. Exp. Med.. 2015 Nov;212(12):2003-13.

 

Presenilin (PSEN) pathogenic mutations cause familial Alzheimer's disease (AD [FAD]) in an autosomal-dominant manner. The extent to which the healthy and diseased alleles influence each other to cause neurodegeneration remains unclear. In this study, we assessed γ-secretase activity ...

Last Updated: 17 Nov 2015

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Analyzing and Quantifying the Gain-of-Function Enhancement of IP3 Receptor Gating by Familial Alzheimer's Disease-Causing Mutants in Presenilins.
 

Author(s): Don-On Daniel Mak, King-Ho Cheung, Patrick Toglia, J Kevin Foskett, Ghanim Ullah

Journal:

 

Familial Alzheimer's disease (FAD)-causing mutant presenilins (PS) interact with inositol 1,4,5-trisphosphate (IP3) receptor (IP3R) Ca(2+) release channels resulting in enhanced IP3R channel gating in an amyloid beta (Aβ) production-independent manner. This gain-of-function enhancement ...

Last Updated: 7 Oct 2015

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Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.
 

Author(s): Brian W Kunkle, James Jaworski, Sandra Barral, Badri Vardarajan, Gary W Beecham, Eden R Martin, Laura S Cantwell, Amanda Partch, Thomas D Bird, Wendy H Raskind, Anita L DeStefano, Regina M Carney, Michael Cuccaro, Jeffrey M Vance, Lindsay A Farrer, Alison M Goate, Tatiana Foroud, Richard P Mayeux, Gerard D Schellenberg, Jonathan L Haines, Margaret A Pericak-Vance

Journal: Alzheimers Dement. 2016 Jan;12(1):2-10.

 

Few high penetrance variants that explain risk in late-onset Alzheimer's disease (LOAD) families have been found.

Last Updated: 16 Jan 2016

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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 8 free, full-text review articles on human participants. First 3 results:

Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia.
 

Author(s): Nina Rostgaard, Gunhild Waldemar, Jørgen Erik Nielsen, Anja Hviid Simonsen

Journal: Dement Geriatr Cogn Disord. 2015 ;40(1-2):54-62.

 

As dementia is a fast-growing health care problem, it is becoming an increasingly urgent need to provide an early diagnosis in order to offer patients the best medical treatment and care. Validated biomarkers which reflect the pathology and disease progression are essential for diagnosis ...

Last Updated: 3 Jul 2015

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Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
 

Author(s): Kensaku Kasuga, Masataka Kikuchi, Takayoshi Tokutake, Akihiro Nakaya, Toshiyuki Tezuka, Tamao Tsukie, Norikazu Hara, Akinori Miyashita, Ryozo Kuwano, Takeshi Ikeuchi

Journal: J. Hum. Genet.. 2015 May;60(5):281-3.

 

Mutations in APP, PSEN1 and PSEN2 as the genetic causes of familial Alzheimer's disease (FAD) have been found in various ethnic populations. A substantial number of FAD pedigrees with mutations have been reported in the Japanese population; however, it remains unclear whether the ...

Last Updated: 26 May 2015

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Derailed intraneuronal signalling drives pathogenesis in sporadic and familial Alzheimer's disease.
 

Author(s): Tom Van Dooren, Katrien Princen, Koen De Witte, Gerard Griffioen

Journal: Biomed Res Int. 2014 ;2014():167024.

 

Although a wide variety of genetic and nongenetic Alzheimer's disease (AD) risk factors have been identified, their role in onset and/or progression of neuronal degeneration remains elusive. Systematic analysis of AD risk factors revealed that perturbations of intraneuronal signalling ...

Last Updated: 22 Sep 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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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: 29 Aug 2016

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Impact of Therapeutic Educational Programme on the Alzheimer's Disease Affected Patient's Quality of Life
 

Status: Recruiting

Condition Summary: Alzheimer's Disease, Mild to Moderately Severe Stages of AD; Community Dwelling Patients With Family Caregiver; Quality of Life

 

Last Updated: 24 Aug 2015

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Hearing Instruments in Alzheimer's Disease
 

Status: Recruiting

Condition Summary: Alzheimer Disease; Hearing Loss

 

Last Updated: 28 Oct 2015

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