Alzheimer's disease causes: Difference between revisions
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==Overview== | ==Overview== | ||
Alzheimer's disease may be caused by trisomy of chromosome 21, familial inheritance of mutations in either presenilin 1 gene, presenilin 2 gene or APOE4 gene. Presenilin mutations are associated with early onset Alzheimer's disease, whereas APOE mutations are associated with late onset disease. Environmental factors | Alzheimer's disease may be caused by [[Trisomy 21|trisomy of chromosome 21]], [[familial]] [[inheritance]] of [[mutations]] in either [[Presenilin 1|presenilin 1 gene]], [[Presenilin|presenilin 2 gene]] or [[APOE|APOE4]] [[gene]]. [[Presenilin]] [[mutations]] are associated with early onset Alzheimer's disease, whereas [[APOE]] [[mutations]] are associated with late onset disease. Environmental factors, such as [[aging]], low level of education and head [[trauma]] nmay also contribute to the development of Alzheimer's disease. | ||
==Causes== | ==Causes== | ||
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! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Percentage of cases''' | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |'''Percentage of cases''' | ||
|- | |- | ||
| colspan="1" rowspan="1" |'''Chromosomal (Down syndrome)''' | | colspan="1" rowspan="1" |'''[[Chromosomal]] ([[Down syndrome]])''' | ||
| | | | ||
* Trisomy 21 | * [[Trisomy 21]] | ||
* Over expression of | * Over expression of [[amyloid precursor protein]] ([[Amyloid precursor protein|APP]]) on [[Chromosome 21 (human)|chromosome 21]] | ||
* Develop the neuropathologic hallmarks of AD after age 40 years | * Develop the neuropathologic hallmarks of AD after age 40 years | ||
| colspan="1" rowspan="1" |<1% | | colspan="1" rowspan="1" |<1% | ||
Line 31: | Line 31: | ||
* Late-onset familial (AD2) | * Late-onset familial (AD2) | ||
| | | | ||
* APOE gene: | * [[APOE]] [[gene]]: | ||
** Locus: AD2 | ** [[Locus]]: AD2 | ||
** Protein: Apolipoprotein E | ** [[Protein]]: [[Apolipoprotein E]] | ||
* TREM2 gene: | * TREM2 [[gene]]: | ||
** Variant: p.Arg47His allelic variant | ** Variant: p.Arg47His [[Allele|allelic]] variant | ||
* PLD3 gene | * PLD3 [[gene]] | ||
* UNC5C gene | * UNC5C [[gene]] | ||
* AKAP9 gene: | * [[AKAP9]] [[gene]]: | ||
** In African-Americans only | ** In African-Americans only | ||
| colspan="1" rowspan="1" |15%-25% of familial cases | | colspan="1" rowspan="1" |15%-25% of [[familial]] cases | ||
|- | |- | ||
| colspan="1" rowspan="1" | | | colspan="1" rowspan="1" | | ||
* Early-onset familial AD (AD1, AD3, AD4) | * Early-onset familial AD (AD1, AD3, AD4) | ||
| | | | ||
* PSEN1 gene: | * [[PSEN1]] [[gene]]: | ||
** Locus: AD3 | ** [[Locus]]: AD3 | ||
** Proportion: 20-70 % of early onset AD cases | ** Proportion: 20-70 % of early onset AD cases | ||
** Protein: Presenilin-1 | ** [[Protein]]: [[Presenilin 1|Presenilin-1]] | ||
* PSEN2 gene: | * [[PSEN2]] [[gene]]: | ||
** Locus: AD4 | ** [[Locus]]: AD4 | ||
** Proportion: Rare | ** Proportion: Rare | ||
** Protein: Presenilin-2 | ** [[Protein]]: [[Presenilin|Presenilin-2]] | ||
* APP gene: | * [[Amyloid precursor protein|APP]] [[gene]]: | ||
** Locus: AD1 | ** [[Locus]]: AD1 | ||
** Proportion: 10-15 % of early onset AD cases | ** Proportion: 10-15 % of early onset AD cases | ||
** Protein: Amyloid precursor protein (APP) | ** [[Protein]]: [[Amyloid precursor protein]] ([[Amyloid precursor protein|APP]]) | ||
| colspan="1" rowspan="1" |<2% of | | colspan="1" rowspan="1" |<2% of [[familial]] cases | ||
|- | |- | ||
| colspan="1" rowspan="1" |'''Unknown (includes genetic/environment interactions)''' | | colspan="1" rowspan="1" |'''Unknown (includes genetic/environment interactions)''' | ||
| | | | ||
* Multifactorial: (combination of) | * Multifactorial: (combination of) | ||
** Aging | ** [[Aging]] | ||
** Genetic predisposition | ** [[Genetic predisposition]] | ||
** Exposure to one or more environmental agents including head trauma, low education level, viruses, and/or toxins | ** Exposure to one or more environmental agents including head [[trauma]], low education level, [[viruses]], and/or [[toxins]] | ||
| colspan="1" rowspan="1" |~75% | | colspan="1" rowspan="1" |~75% | ||
|} | |} |
Revision as of 03:04, 21 September 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2]
Overview
Alzheimer's disease may be caused by trisomy of chromosome 21, familial inheritance of mutations in either presenilin 1 gene, presenilin 2 gene or APOE4 gene. Presenilin mutations are associated with early onset Alzheimer's disease, whereas APOE mutations are associated with late onset disease. Environmental factors, such as aging, low level of education and head trauma nmay also contribute to the development of Alzheimer's disease.
Causes
The following are the causes of Alzheimer's dementia (AD):[1][2][3][4][5]
Cause | Specific characteristics | Percentage of cases |
---|---|---|
Chromosomal (Down syndrome) |
|
<1% |
All familial | ~25% | |
|
15%-25% of familial cases | |
|
<2% of familial cases | |
Unknown (includes genetic/environment interactions) |
|
~75% |
References
- ↑ "Alzheimer Disease Overview - GeneReviews® - NCBI Bookshelf".
- ↑ Brickell KL, Steinbart EJ, Rumbaugh M, Payami H, Schellenberg GD, Van Deerlin V, Yuan W, Bird TD (2006). "Early-onset Alzheimer disease in families with late-onset Alzheimer disease: a potential important subtype of familial Alzheimer disease". Arch. Neurol. 63 (9): 1307–11. doi:10.1001/archneur.63.9.1307. PMID 16966510.
- ↑ Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T (1999). "Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum". Am. J. Hum. Genet. 65 (3): 664–70. doi:10.1086/302553. PMC 1377972. PMID 10441572.
- ↑ Munoz DG, Feldman H (2000). "Causes of Alzheimer's disease". CMAJ. 162 (1): 65–72. PMC 1232234. PMID 11216203.
- ↑ Hölscher C (1998). "Possible causes of Alzheimer's disease: amyloid fragments, free radicals, and calcium homeostasis". Neurobiol. Dis. 5 (3): 129–41. doi:10.1006/nbdi.1998.0193. PMID 9848086.