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Alzheimer disease(AD)

MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
Synonyms: AD; ALZHEIMER DISEASE, FAMILIAL, 1, AUTOSOMAL RECESSIVE; Alzheimer's disease; Early-Onset Familial Alzheimer Disease
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
SNOMED CT: AD - Alzheimer's disease (26929004); Alzheimer disease (26929004); Alzheimers disease (26929004); Alzheimer's disease (26929004)
 
Genes (locations): A2M (12p13.31); ACE (17q23.3); APBB2 (4p14-13); APP (21q21.3); BLMH (17q11.2); HFE (6p22.2); MPO (17q22); NOS3 (7q36.1); PAXIP1 (7q36.2); PLAU (10q22.2); SORL1 (11q24.1)
Related genes: ABCA7, PSEN2, PSEN1, APOE
OMIM®: 104300
HPO: HP:0002511

Disease characteristics

Excerpted from the GeneReview: Alzheimer Disease Overview
Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., ≥2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Thomas D Bird   view full author information

Additional descriptions

From OMIM
Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT). Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer Disease Alzheimer disease is a genetically heterogeneous disorder. See also AD2 (104310), associated with the APOE*4 allele (107741) on chromosome 19; AD3 (607822), caused by mutation in the presenilin-1 gene (PSEN1; 104311) on 14q; and AD4 (606889), caused by mutation in the PSEN2 gene (600759) on 1q31. There is evidence for additional AD loci on other chromosomes; see AD5 (602096) on 12p11, AD6 (605526) on 10q24, AD7 (606187) on 10p13, AD8 (607116) on 20p, AD9 (608907), associated with variation in the ABCA7 gene (605414) on 19p13, AD10 (609636) on 7q36, AD11 (609790) on 9q22, AD12 (611073) on 8p12-q22, AD13 (611152) on 1q21, AD14 (611154) on 1q25, AD15 (611155) on 3q22-q24, AD16 (300756) on Xq21.3, AD17 (615080) on 6p21.2, and AD18 (615590), associated with variation in the ADAM10 gene (602192) on 15q21. Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (502500). Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; 103950.0005), low density lipoprotein-related protein-1 (LRP1; 107770), the transferrin gene (TF; 190000), the hemochromatosis gene (HFE; 613609), the NOS3 gene (163729), the vascular endothelial growth factor gene (VEGF; 192240), the ABCA2 gene (600047), and the TNF gene (191160) (see MOLECULAR GENETICS).  http://www.omim.org/entry/104300
From GHR
Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease. Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Death usually results from pneumonia, malnutrition, or general body wasting (inanition).Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear before age 65, while the late-onset form appears after age 65. The early-onset form is much less common than the late-onset form, accounting for less than 5 percent of all cases of Alzheimer disease.  https://ghr.nlm.nih.gov/condition/alzheimer-disease

Clinical features

Neurofibrillary tangles
MedGen UID:
39273
Concept ID:
C0085400
Finding
Abnormal structures located in various parts of the brain and composed of dense arrays of paired helical filaments (neurofilaments and microtubules). These double helical stacks of transverse subunits are twisted into left-handed ribbon-like filaments that likely incorporate the following proteins: (1) the intermediate filaments: medium- and high-molecular-weight neurofilaments; (2) the microtubule-associated proteins map-2 and tau; (3) actin; and (4) UBIQUITINS. As one of the hallmarks of ALZHEIMER DISEASE, the neurofibrillary tangles eventually occupy the whole of the cytoplasm in certain classes of cell in the neocortex, hippocampus, brain stem, and diencephalon. The number of these tangles, as seen in post mortem histology, correlates with the degree of dementia during life. Some studies suggest that tangle antigens leak into the systemic circulation both in the course of normal aging and in cases of Alzheimer disease.
Long-tract signs
MedGen UID:
356397
Concept ID:
C1865903
Finding
Parkinsonism
MedGen UID:
504793
Concept ID:
CN001191
Finding
Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.

Professional guidelines

PubMed

Moore A, Patterson C, Lee L, Vedel I, Bergman H; Canadian Consensus Conference on the Diagnosis and Treatment of Dementia.
Can Fam Physician 2014 May;60(5):433-8. PMID: 24829003Free PMC Article
Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeux R, Bird T; American College of Medical Genetics and the National Society of Genetic Counselors.
Genet Med 2011 Jun;13(6):597-605. doi: 10.1097/GIM.0b013e31821d69b8. PMID: 21577118Free PMC Article
Williams JW, Plassman BL, Burke J, Benjamin S
Evid Rep Technol Assess (Full Rep) 2010 Apr;(193):1-727. PMID: 21500874Free PMC Article
Hort J, O'Brien JT, Gainotti G, Pirttila T, Popescu BO, Rektorova I, Sorbi S, Scheltens P; EFNS Scientist Panel on Dementia.
Eur J Neurol 2010 Oct;17(10):1236-48. doi: 10.1111/j.1468-1331.2010.03040.x. PMID: 20831773

Recent clinical studies

Etiology

Inoue Y, Nakajima M, Uetani H, Hirai T, Ueda M, Kitajima M, Utsunomiya D, Watanabe M, Hashimoto M, Ikeda M, Yamashita Y, Ando Y
AJNR Am J Neuroradiol 2016 Feb;37(2):223-7. Epub 2015 Oct 8 doi: 10.3174/ajnr.A4496. PMID: 26450535
Ulusu NN, Yilmaz G, Erbayraktar Z, Evlice AT, Aras S, Yener G, Avci A
Turk J Med Sci 2015;45(5):1159-66. PMID: 26738362
Tramutola A, Triplett JC, Di Domenico F, Niedowicz DM, Murphy MP, Coccia R, Perluigi M, Butterfield DA
J Neurochem 2015 Jun;133(5):739-49. Epub 2015 Feb 26 doi: 10.1111/jnc.13037. PMID: 25645581
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA; Alzheimer Disease Genetics Consortium., Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barnes LL, Beach TG, Becker JT, Beekly D, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Dick M, Dickson DW, Duara R, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Lopez OL, Lyketsos CG, Mack WJ, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Murrell JR, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Valladares O, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L
JAMA Neurol 2014 Nov;71(11):1394-404. doi: 10.1001/jamaneurol.2014.1491. PMID: 25199842Free PMC Article
Donovan NJ, Wadsworth LP, Lorius N, Locascio JJ, Rentz DM, Johnson KA, Sperling RA, Marshall GA; Alzheimer Disease Neuroimaging Initiative.
Am J Geriatr Psychiatry 2014 Nov;22(11):1168-79. Epub 2013 Jul 24 doi: 10.1016/j.jagp.2013.03.006. PMID: 23890751Free PMC Article

Diagnosis

Inoue Y, Nakajima M, Uetani H, Hirai T, Ueda M, Kitajima M, Utsunomiya D, Watanabe M, Hashimoto M, Ikeda M, Yamashita Y, Ando Y
AJNR Am J Neuroradiol 2016 Feb;37(2):223-7. Epub 2015 Oct 8 doi: 10.3174/ajnr.A4496. PMID: 26450535
Ulusu NN, Yilmaz G, Erbayraktar Z, Evlice AT, Aras S, Yener G, Avci A
Turk J Med Sci 2015;45(5):1159-66. PMID: 26738362
Cairns NJ, Perrin RJ, Franklin EE, Carter D, Vincent B, Xie M, Bateman RJ, Benzinger T, Friedrichsen K, Brooks WS, Halliday GM, McLean C, Ghetti B, Morris JC; Alzheimer Disease Neuroimaging Initiative.; Dominantly Inherited Alzheimer Network.
Neuropathology 2015 Aug;35(4):390-400. Epub 2015 May 12 doi: 10.1111/neup.12205. PMID: 25964057Free PMC Article
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA; Alzheimer Disease Genetics Consortium., Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barnes LL, Beach TG, Becker JT, Beekly D, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Dick M, Dickson DW, Duara R, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Lopez OL, Lyketsos CG, Mack WJ, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Murrell JR, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Valladares O, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L
JAMA Neurol 2014 Nov;71(11):1394-404. doi: 10.1001/jamaneurol.2014.1491. PMID: 25199842Free PMC Article
Donovan NJ, Wadsworth LP, Lorius N, Locascio JJ, Rentz DM, Johnson KA, Sperling RA, Marshall GA; Alzheimer Disease Neuroimaging Initiative.
Am J Geriatr Psychiatry 2014 Nov;22(11):1168-79. Epub 2013 Jul 24 doi: 10.1016/j.jagp.2013.03.006. PMID: 23890751Free PMC Article

Therapy

Mancini S, Minniti S, Gregori M, Sancini G, Cagnotto A, Couraud PO, Ordóñez-Gutiérrez L, Wandosell F, Salmona M, Re F
Nanomedicine 2016 Jan;12(1):43-52. Epub 2015 Sep 26 doi: 10.1016/j.nano.2015.09.003. PMID: 26410276
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA; Alzheimer Disease Genetics Consortium., Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barnes LL, Beach TG, Becker JT, Beekly D, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Dick M, Dickson DW, Duara R, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Lopez OL, Lyketsos CG, Mack WJ, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Murrell JR, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Valladares O, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L
JAMA Neurol 2014 Nov;71(11):1394-404. doi: 10.1001/jamaneurol.2014.1491. PMID: 25199842Free PMC Article
Porsteinsson AP, Drye LT, Pollock BG, Devanand DP, Frangakis C, Ismail Z, Marano C, Meinert CL, Mintzer JE, Munro CA, Pelton G, Rabins PV, Rosenberg PB, Schneider LS, Shade DM, Weintraub D, Yesavage J, Lyketsos CG; CitAD Research Group.
JAMA 2014 Feb 19;311(7):682-91. doi: 10.1001/jama.2014.93. PMID: 24549548Free PMC Article
Qiu WW, Lai A, Mon T, Mwamburi M, Taylor W, Rosenzweig J, Kowall N, Stern R, Zhu H, Steffens DC
Am J Geriatr Psychiatry 2014 Feb;22(2):177-85. Epub 2013 Apr 3 doi: 10.1016/j.jagp.2012.08.017. PMID: 23567418Free PMC Article
Peters KR, Lynn Beattie B, Feldman HH, Illes J
Prog Neurobiol 2013 Nov;110:114-23. Epub 2013 Jan 21 doi: 10.1016/j.pneurobio.2012.12.001. PMID: 23348495

Prognosis

Votruba KL, Persad C, Giordani B
J Geriatr Psychiatry Neurol 2015 Sep;28(3):203-9. Epub 2015 Jun 11 doi: 10.1177/0891988715588829. PMID: 26071443
Cairns NJ, Perrin RJ, Franklin EE, Carter D, Vincent B, Xie M, Bateman RJ, Benzinger T, Friedrichsen K, Brooks WS, Halliday GM, McLean C, Ghetti B, Morris JC; Alzheimer Disease Neuroimaging Initiative.; Dominantly Inherited Alzheimer Network.
Neuropathology 2015 Aug;35(4):390-400. Epub 2015 May 12 doi: 10.1111/neup.12205. PMID: 25964057Free PMC Article
Littlejohns TJ, Henley WE, Lang IA, Annweiler C, Beauchet O, Chaves PH, Fried L, Kestenbaum BR, Kuller LH, Langa KM, Lopez OL, Kos K, Soni M, Llewellyn DJ
Neurology 2014 Sep 2;83(10):920-8. Epub 2014 Aug 6 doi: 10.1212/WNL.0000000000000755. PMID: 25098535Free PMC Article
Gao F, Barker PB
AJNR Am J Neuroradiol 2014 Jun;35(6 Suppl):S4-11. Epub 2014 Apr 17 doi: 10.3174/ajnr.A3944. PMID: 24742809Free PMC Article
Donovan NJ, Wadsworth LP, Lorius N, Locascio JJ, Rentz DM, Johnson KA, Sperling RA, Marshall GA; Alzheimer Disease Neuroimaging Initiative.
Am J Geriatr Psychiatry 2014 Nov;22(11):1168-79. Epub 2013 Jul 24 doi: 10.1016/j.jagp.2013.03.006. PMID: 23890751Free PMC Article

Clinical prediction guides

Ulusu NN, Yilmaz G, Erbayraktar Z, Evlice AT, Aras S, Yener G, Avci A
Turk J Med Sci 2015;45(5):1159-66. PMID: 26738362
Cairns NJ, Perrin RJ, Franklin EE, Carter D, Vincent B, Xie M, Bateman RJ, Benzinger T, Friedrichsen K, Brooks WS, Halliday GM, McLean C, Ghetti B, Morris JC; Alzheimer Disease Neuroimaging Initiative.; Dominantly Inherited Alzheimer Network.
Neuropathology 2015 Aug;35(4):390-400. Epub 2015 May 12 doi: 10.1111/neup.12205. PMID: 25964057Free PMC Article
Tramutola A, Triplett JC, Di Domenico F, Niedowicz DM, Murphy MP, Coccia R, Perluigi M, Butterfield DA
J Neurochem 2015 Jun;133(5):739-49. Epub 2015 Feb 26 doi: 10.1111/jnc.13037. PMID: 25645581
Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA; Alzheimer Disease Genetics Consortium., Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barnes LL, Beach TG, Becker JT, Beekly D, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Dick M, Dickson DW, Duara R, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Lopez OL, Lyketsos CG, Mack WJ, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Murrell JR, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Valladares O, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L
JAMA Neurol 2014 Nov;71(11):1394-404. doi: 10.1001/jamaneurol.2014.1491. PMID: 25199842Free PMC Article
Donovan NJ, Wadsworth LP, Lorius N, Locascio JJ, Rentz DM, Johnson KA, Sperling RA, Marshall GA; Alzheimer Disease Neuroimaging Initiative.
Am J Geriatr Psychiatry 2014 Nov;22(11):1168-79. Epub 2013 Jul 24 doi: 10.1016/j.jagp.2013.03.006. PMID: 23890751Free PMC Article

Recent systematic reviews

Tsoi KK, Hirai HW, Chan JY, Kwok TC
J Am Med Dir Assoc 2016 Jan;17(1):24-30. Epub 2015 Sep 26 doi: 10.1016/j.jamda.2015.08.007. PMID: 26392193
Desikan RS, Schork AJ, Wang Y, Thompson WK, Dehghan A, Ridker PM, Chasman DI, McEvoy LK, Holland D, Chen CH, Karow DS, Brewer JB, Hess CP, Williams J, Sims R, O'Donovan MC, Choi SH, Bis JC, Ikram MA, Gudnason V, DeStefano AL, van der Lee SJ, Psaty BM, van Duijn CM, Launer L, Seshadri S, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Hardy J, Ulstein ID, Aarsland D, Fladby T, White LR, Sando SB, Rongve A, Witoelar A, Djurovic S, Hyman BT, Snaedal J, Steinberg S, Stefansson H, Stefansson K, Schellenberg GD, Andreassen OA, Dale AM; Inflammation Working Group and International Genomics of Alzheimer’s Disease Project (IGAP) and DemGene Investigators†.
Circulation 2015 Jun 9;131(23):2061-9. Epub 2015 Apr 10 doi: 10.1161/CIRCULATIONAHA.115.015489. PMID: 25862742Free PMC Article
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