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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 presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
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.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
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

Definition

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 GTR]

Additional descriptions

From GeneReviews
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).  https://www.ncbi.nlm.nih.gov/books/NBK1161
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

Alzheimer disease
MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
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).
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.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Long-tract signs
MedGen UID:
356397
Concept ID:
C1865903
Finding

Conditions with this feature

Alzheimer disease
MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
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).
Complete trisomy 21 syndrome
MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.
Familial type 3 hyperlipoproteinemia
MedGen UID:
9364
Concept ID:
C0020479
Disease or Syndrome
Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoporteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipolipoprotein E or absence of apoE (summary by Blum, 2016).
Sea-blue histiocyte syndrome
MedGen UID:
19908
Concept ID:
C0036489
Disease or Syndrome
APOE p.Leu167del is a rare genetic variant described in 38 cases in the literature with a range of clinical phenotypes. Three phenotypes can be associated with the APOE p.Leu167del variant: Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease. Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevated LDL cholesterol levels that leads to premature morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD). Familial combined hyperlipidemia (FCHL) characterized by variable elevations of total cholesterol, triglycerides, or LDL cholesterol and a high risk of premature ASCVD. It has been suggested that the phenotype associated with the APOE p.Leu167del variant may depend on multiple factors, including sex, APOE genotype, control of hyperlipidemia, gene-gene interactions, gene-environment interactions, or perhaps epigenetic and other non-Mendelian effects.
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MedGen UID:
318680
Concept ID:
C1832662
Finding
Alzheimer disease, susceptibility to, mitochondrial
MedGen UID:
325148
Concept ID:
C1838990
Finding
Alzheimer disease, type 3
MedGen UID:
334304
Concept ID:
C1843013
Disease or Syndrome
Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years.
Alzheimer disease, type 4
MedGen UID:
376072
Concept ID:
C1847200
Disease or Syndrome
Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years.
Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
MedGen UID:
341884
Concept ID:
C1857933
Disease or Syndrome
Apolipoprotein E, Deficiency or Defect of
MedGen UID:
350700
Concept ID:
C1862556
Disease or Syndrome
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
MedGen UID:
350701
Concept ID:
C1862557
Disease or Syndrome
Familial Hyperbeta- and Prebetalipoproteinemia
MedGen UID:
400080
Concept ID:
C1862558
Disease or Syndrome
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
MedGen UID:
354777
Concept ID:
C1862560
Disease or Syndrome
Broad-Betalipoproteinemia
MedGen UID:
400081
Concept ID:
C1862561
Disease or Syndrome
Floating-Betalipoproteinemia
MedGen UID:
350702
Concept ID:
C1862562
Disease or Syndrome
Coronary artery disease, severe, susceptibility to
MedGen UID:
349546
Concept ID:
C1862591
Finding
Alzheimer disease 2
MedGen UID:
400197
Concept ID:
C1863051
Disease or Syndrome
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.
Alzheimer disease, type 10
MedGen UID:
351228
Concept ID:
C1864828
Disease or Syndrome
Alzheimer disease, type 5
MedGen UID:
356103
Concept ID:
C1865868
Disease or Syndrome
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).
Lipoprotein glomerulopathy
MedGen UID:
382034
Concept ID:
C2673196
Disease or Syndrome
Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; 107741). The disorder had rarely been described in Caucasians.
LDLCQ5
MedGen UID:
390957
Concept ID:
C2676098
Finding
APOE4(-)-FREIBURG
MedGen UID:
854548
Concept ID:
C3887714
Finding
APOE2 ISOFORMS
MedGen UID:
864295
Concept ID:
C4015858
Finding
HYPERLIPOPROTEINEMIA AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
MedGen UID:
864296
Concept ID:
C4015859
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH
MedGen UID:
864297
Concept ID:
C4015860
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2
MedGen UID:
864298
Concept ID:
C4015861
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY
MedGen UID:
864299
Concept ID:
C4015862
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE LEIDEN
MedGen UID:
864300
Concept ID:
C4015863
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7
MedGen UID:
864301
Concept ID:
C4015864
Finding
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT
MedGen UID:
864302
Concept ID:
C4015865
Finding
APOLIPOPROTEINEMIA E1
MedGen UID:
864303
Concept ID:
C4015866
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG
MedGen UID:
864304
Concept ID:
C4015867
Finding
Dysbetalipoproteinemia due to apoe2
MedGen UID:
864305
Concept ID:
C4015868
Finding
APOE2-DUNEDIN
MedGen UID:
864306
Concept ID:
C4015869
Finding
HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA
MedGen UID:
864307
Concept ID:
C4015870
Finding
APOE3 ISOFORM
MedGen UID:
864308
Concept ID:
C4015871
Finding
ALZHEIMER DISEASE 2, DUE TO APOE4 ISOFORM
MedGen UID:
864309
Concept ID:
C4015872
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY, AUTOSOMAL RECESSIVE
MedGen UID:
864310
Concept ID:
C4015873
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA
MedGen UID:
864311
Concept ID:
C4015874
Finding
APOE5 VARIANT
MedGen UID:
864312
Concept ID:
C4015875
Finding
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4
MedGen UID:
864313
Concept ID:
C4015876
Finding
APOE3(-)-FREIBURG
MedGen UID:
864314
Concept ID:
C4015877
Finding
APOE4 VARIANT
MedGen UID:
864315
Concept ID:
C4015878
Finding
APOE3 VARIANT
MedGen UID:
864316
Concept ID:
C4015879
Finding
APOE2 VARIANT
MedGen UID:
864317
Concept ID:
C4015880
Finding
APOE4(+)
MedGen UID:
864318
Concept ID:
C4015881
Finding
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL RECESSIVE
MedGen UID:
865858
Concept ID:
C4017421
Finding
APOE-SUITA
MedGen UID:
865859
Concept ID:
C4017422
Finding
APOE3-WASHINGTON
MedGen UID:
865860
Concept ID:
C4017423
Finding
APOE3(-)-KOCHI
MedGen UID:
865861
Concept ID:
C4017424
Finding
APOE2-FUKUOKA
MedGen UID:
865862
Concept ID:
C4017425
Finding
APOE SENDAI
MedGen UID:
865863
Concept ID:
C4017426
Finding
APOE KYOTO
MedGen UID:
865864
Concept ID:
C4017427
Finding

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

Xia C, Makaretz SJ, Caso C, McGinnis S, Gomperts SN, Sepulcre J, Gomez-Isla T, Hyman BT, Schultz A, Vasdev N, Johnson KA, Dickerson BC
JAMA Neurol 2017 Apr 1;74(4):427-436. doi: 10.1001/jamaneurol.2016.5755. PMID: 28241163Free PMC Article
Zissimopoulos JM, Barthold D, Brinton RD, Joyce G
JAMA Neurol 2017 Feb 1;74(2):225-232. doi: 10.1001/jamaneurol.2016.3783. PMID: 27942728Free PMC Article
Pistollato F, Sumalla Cano S, Elio I, Masias Vergara M, Giampieri F, Battino M
Nutr Rev 2016 Oct;74(10):624-34. doi: 10.1093/nutrit/nuw023. PMID: 27634977
Tosto G, Bird TD, Bennett DA, Boeve BF, Brickman AM, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Graff-Radford NR, Lantigua R, Manly J, Ottman R, Rosenberg R, Schaid DJ, Schupf N, Stern Y, Sweet RA, Mayeux R; National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) Family Study Group.
JAMA Neurol 2016 Oct 1;73(10):1231-1237. doi: 10.1001/jamaneurol.2016.2539. PMID: 27533593Free PMC Article
He Y, Li C, Yang Y, Li Y, Wang Y, Yang H, Jin T, Chen S
Aging Clin Exp Res 2016 Oct;28(5):805-11. Epub 2015 Nov 14 doi: 10.1007/s40520-015-0489-y. PMID: 26572157

Diagnosis

Xia C, Makaretz SJ, Caso C, McGinnis S, Gomperts SN, Sepulcre J, Gomez-Isla T, Hyman BT, Schultz A, Vasdev N, Johnson KA, Dickerson BC
JAMA Neurol 2017 Apr 1;74(4):427-436. doi: 10.1001/jamaneurol.2016.5755. PMID: 28241163Free PMC Article
van Wijngaarden P, Hadoux X, Alwan M, Keel S, Dirani M
Clin Exp Ophthalmol 2017 Jan;45(1):54-61. Epub 2016 Dec 19 doi: 10.1111/ceo.12872. PMID: 28147442
Zissimopoulos JM, Barthold D, Brinton RD, Joyce G
JAMA Neurol 2017 Feb 1;74(2):225-232. doi: 10.1001/jamaneurol.2016.3783. PMID: 27942728Free PMC Article
He Y, Li C, Yang Y, Li Y, Wang Y, Yang H, Jin T, Chen S
Aging Clin Exp Res 2016 Oct;28(5):805-11. Epub 2015 Nov 14 doi: 10.1007/s40520-015-0489-y. PMID: 26572157
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

Therapy

Epperly T, Dunay MA, Boice JL
Am Fam Physician 2017 Jun 15;95(12):771-778. PMID: 28671413
Taipale H, Tolppanen AM, Koponen M, Tanskanen A, Lavikainen P, Sund R, Tiihonen J, Hartikainen S
CMAJ 2017 Apr 10;189(14):E519-E529. doi: 10.1503/cmaj.160126. PMID: 28396328Free PMC Article
Tanpitukpongse TP, Mazurowski MA, Ikhena J, Petrella JR; Alzheimer's Disease Neuroimaging Initiative.
AJNR Am J Neuroradiol 2017 Mar;38(3):546-552. Epub 2017 Jan 5 doi: 10.3174/ajnr.A5061. PMID: 28057634Free PMC Article
Zissimopoulos JM, Barthold D, Brinton RD, Joyce G
JAMA Neurol 2017 Feb 1;74(2):225-232. doi: 10.1001/jamaneurol.2016.3783. PMID: 27942728Free 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

Prognosis

Schreiber S, Schreiber F, Lockhart SN, Horng A, Bejanin A, Landau SM, Jagust WJ; Alzheimer’s Disease Neuroimaging Initiative.
JAMA Neurol 2017 Jun 1;74(6):650-659. doi: 10.1001/jamaneurol.2016.5349. PMID: 28319241
Tanpitukpongse TP, Mazurowski MA, Ikhena J, Petrella JR; Alzheimer's Disease Neuroimaging Initiative.
AJNR Am J Neuroradiol 2017 Mar;38(3):546-552. Epub 2017 Jan 5 doi: 10.3174/ajnr.A5061. PMID: 28057634Free PMC Article
Zissimopoulos JM, Barthold D, Brinton RD, Joyce G
JAMA Neurol 2017 Feb 1;74(2):225-232. doi: 10.1001/jamaneurol.2016.3783. PMID: 27942728Free PMC Article
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
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

Xia C, Makaretz SJ, Caso C, McGinnis S, Gomperts SN, Sepulcre J, Gomez-Isla T, Hyman BT, Schultz A, Vasdev N, Johnson KA, Dickerson BC
JAMA Neurol 2017 Apr 1;74(4):427-436. doi: 10.1001/jamaneurol.2016.5755. PMID: 28241163Free PMC Article
Tosto G, Bird TD, Bennett DA, Boeve BF, Brickman AM, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Graff-Radford NR, Lantigua R, Manly J, Ottman R, Rosenberg R, Schaid DJ, Schupf N, Stern Y, Sweet RA, Mayeux R; National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) Family Study Group.
JAMA Neurol 2016 Oct 1;73(10):1231-1237. doi: 10.1001/jamaneurol.2016.2539. PMID: 27533593Free PMC Article
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

Recent systematic reviews

Epperly T, Dunay MA, Boice JL
Am Fam Physician 2017 Jun 15;95(12):771-778. PMID: 28671413
Li J, Cesari M, Liu F, Dong B, Vellas B
Can J Diabetes 2017 Feb;41(1):114-119. Epub 2016 Sep 7 doi: 10.1016/j.jcjd.2016.07.003. PMID: 27614804
He Y, Li C, Yang Y, Li Y, Wang Y, Yang H, Jin T, Chen S
Aging Clin Exp Res 2016 Oct;28(5):805-11. Epub 2015 Nov 14 doi: 10.1007/s40520-015-0489-y. PMID: 26572157
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
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

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