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Alzheimer disease, type 4(AD4)

MedGen UID:
376072
Concept ID:
C1847200
Disease or Syndrome
Synonyms: AD4; Alzheime disease; Alzheimer disease 4; Alzheimer disease familial type 4; Alzheimer Disease Risk Factor (APOE Genotype); ALZHEIMER DISEASE, FAMILIAL, 4
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Genes: PSEN2; APOE
Cytogenetic locations: 19q13.32; 1q42.13
OMIM®: 606889

Definition

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. [from GeneReviews]

Additional description

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.  http://ghr.nlm.nih.gov/condition/alzheimer-disease

Clinical features

Sleep-wake cycle disturbance
MedGen UID:
371548
Concept ID:
C1833362
Finding
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
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.
Cerebral amyloid angiopathy
MedGen UID:
506633
Concept ID:
CN167696
Finding
Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.

Professional guidelines

PubMed

Williams JW, Plassman BL, Burke J, Benjamin S
Evid Rep Technol Assess (Full Rep) 2010 Apr;(193):1-727. PMID: 21500874
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

Mormont E, Jamart J, Jacques D
J Geriatr Psychiatry Neurol 2014 Dec;27(4):231-6. Epub 2014 Apr 22 doi: 10.1177/0891988714532021. [Epub ahead of print] PMID: 24759087
Vardarajan BN, Faber KM, Bird TD, Bennett DA, Rosenberg R, Boeve BF, Graff-Radford NR, Goate AM, Farlow M, Sweet RA, Lantigua R, Medrano MZ, Ottman R, Schaid DJ, Foroud TM, Mayeux R; NIA-LOAD/NCRAD Family Study Group
JAMA Neurol 2014 Mar;71(3):315-23. doi: 10.1001/jamaneurol.2013.5570. PMID: 24425039Free PMC Article
Shah I, Petroczi A, Naughton DP
J Clin Endocrinol Metab 2014 Mar;99(3):808-16. Epub 2014 Jan 13 doi: 10.1210/jc.2013-2872. [Epub ahead of print] PMID: 24423328
Guo H, Song X, Vandorpe R, Zhang Y, Chen W, Zhang N, Schmidt MH, Rockwood K; Alzheimer's Disease Neuroimaging Initiative
AJNR Am J Neuroradiol 2014 Mar;35(3):504-12. Epub 2013 Aug 29 doi: 10.3174/ajnr.A3709. [Epub ahead of print] PMID: 23988753
Yang Y, Cudaback E, Jorstad NL, Hemingway JF, Hagan CE, Melief EJ, Li X, Yoo T, Khademi SB, Montine KS, Montine TJ, Keene CD
Am J Pathol 2013 Sep;183(3):905-17. Epub 2013 Jul 4 doi: 10.1016/j.ajpath.2013.05.009. [Epub ahead of print] PMID: 23831297Free PMC Article

Diagnosis

Mormont E, Jamart J, Jacques D
J Geriatr Psychiatry Neurol 2014 Dec;27(4):231-6. Epub 2014 Apr 22 doi: 10.1177/0891988714532021. [Epub ahead of print] PMID: 24759087
Vardarajan BN, Faber KM, Bird TD, Bennett DA, Rosenberg R, Boeve BF, Graff-Radford NR, Goate AM, Farlow M, Sweet RA, Lantigua R, Medrano MZ, Ottman R, Schaid DJ, Foroud TM, Mayeux R; NIA-LOAD/NCRAD Family Study Group
JAMA Neurol 2014 Mar;71(3):315-23. doi: 10.1001/jamaneurol.2013.5570. PMID: 24425039Free PMC Article
Shah I, Petroczi A, Naughton DP
J Clin Endocrinol Metab 2014 Mar;99(3):808-16. Epub 2014 Jan 13 doi: 10.1210/jc.2013-2872. [Epub ahead of print] PMID: 24423328
Guo H, Song X, Vandorpe R, Zhang Y, Chen W, Zhang N, Schmidt MH, Rockwood K; Alzheimer's Disease Neuroimaging Initiative
AJNR Am J Neuroradiol 2014 Mar;35(3):504-12. Epub 2013 Aug 29 doi: 10.3174/ajnr.A3709. [Epub ahead of print] PMID: 23988753
Lurain NS, Hanson BA, Martinson J, Leurgans SE, Landay AL, Bennett DA, Schneider JA
J Infect Dis 2013 Aug 15;208(4):564-72. Epub 2013 May 9 doi: 10.1093/infdis/jit210. [Epub ahead of print] PMID: 23661800Free PMC Article

Therapy

Xu Z, Dong Y, Wang H, Culley DJ, Marcantonio ER, Crosby G, Tanzi RE, Zhang Y, Xie Z
Sci Rep 2014 Jan 20;4:3766. doi: 10.1038/srep03766. PMID: 24441878Free PMC Article
Carrera I, Etcheverría I, Li Y, Fernández-Novoa L, Lombardi V, Vigo C, Palacios HH, Benberin VV, Cacabelos R, Aliev G
Biomed Res Int 2013;2013:709145. Epub 2013 Sep 9 doi: 10.1155/2013/709145. PMID: 24089686Free PMC Article
Oulès B, Del Prete D, Greco B, Zhang X, Lauritzen I, Sevalle J, Moreno S, Paterlini-Bréchot P, Trebak M, Checler F, Benfenati F, Chami M
J Neurosci 2012 Aug 22;32(34):11820-34. doi: 10.1523/JNEUROSCI.0875-12.2012. PMID: 22915123Free PMC Article
Hussey EP, Smolinsky JG, Piryatinsky I, Budson AE, Ally BA
Alzheimer Dis Assoc Disord 2012 Apr-Jun;26(2):124-34. doi: 10.1097/WAD.0b013e31822e0f73. PMID: 21946012Free PMC Article
Devanand DP, Mintzer J, Schultz S, Sultzer D, de la Pena D, Gupta S, Colon S, Schimming C, Pelton GH, Andrews H, Levin B
Am J Geriatr Psychiatry 2012 Apr;20(4):362-73. doi: 10.1097/JGP.0b013e3182110563. PMID: 21407047Free PMC Article

Prognosis

Vardarajan BN, Faber KM, Bird TD, Bennett DA, Rosenberg R, Boeve BF, Graff-Radford NR, Goate AM, Farlow M, Sweet RA, Lantigua R, Medrano MZ, Ottman R, Schaid DJ, Foroud TM, Mayeux R; NIA-LOAD/NCRAD Family Study Group
JAMA Neurol 2014 Mar;71(3):315-23. doi: 10.1001/jamaneurol.2013.5570. PMID: 24425039Free PMC Article
Shah I, Petroczi A, Naughton DP
J Clin Endocrinol Metab 2014 Mar;99(3):808-16. Epub 2014 Jan 13 doi: 10.1210/jc.2013-2872. [Epub ahead of print] PMID: 24423328
Wang L, Fagan AM, Shah AR, Beg MF, Csernansky JG, Morris JC, Holtzman DM
Alzheimer Dis Assoc Disord 2012 Oct-Dec;26(4):314-21. doi: 10.1097/WAD.0b013e31823c0cf4. PMID: 22156755Free PMC Article
Luchsinger JA, Cheng D, Tang MX, Schupf N, Mayeux R
Alzheimer Dis Assoc Disord 2012 Apr-Jun;26(2):101-5. doi: 10.1097/WAD.0b013e318222f0d4. PMID: 21666429Free PMC Article
Devanand DP, Mintzer J, Schultz S, Sultzer D, de la Pena D, Gupta S, Colon S, Schimming C, Pelton GH, Andrews H, Levin B
Am J Geriatr Psychiatry 2012 Apr;20(4):362-73. doi: 10.1097/JGP.0b013e3182110563. PMID: 21407047Free PMC Article

Clinical prediction guides

Shah I, Petroczi A, Naughton DP
J Clin Endocrinol Metab 2014 Mar;99(3):808-16. Epub 2014 Jan 13 doi: 10.1210/jc.2013-2872. [Epub ahead of print] PMID: 24423328
Guo H, Song X, Vandorpe R, Zhang Y, Chen W, Zhang N, Schmidt MH, Rockwood K; Alzheimer's Disease Neuroimaging Initiative
AJNR Am J Neuroradiol 2014 Mar;35(3):504-12. Epub 2013 Aug 29 doi: 10.3174/ajnr.A3709. [Epub ahead of print] PMID: 23988753
Jackson K, Barisone GA, Diaz E, Jin LW, DeCarli C, Despa F
Ann Neurol 2013 Oct;74(4):517-26. Epub 2013 Jul 12 doi: 10.1002/ana.23956. [Epub ahead of print] PMID: 23794448Free PMC Article
Luchsinger JA, Cheng D, Tang MX, Schupf N, Mayeux R
Alzheimer Dis Assoc Disord 2012 Apr-Jun;26(2):101-5. doi: 10.1097/WAD.0b013e318222f0d4. PMID: 21666429Free PMC Article
Devanand DP, Mintzer J, Schultz S, Sultzer D, de la Pena D, Gupta S, Colon S, Schimming C, Pelton GH, Andrews H, Levin B
Am J Geriatr Psychiatry 2012 Apr;20(4):362-73. doi: 10.1097/JGP.0b013e3182110563. PMID: 21407047Free PMC Article

Recent systematic reviews

Zhang S, Smailagic N, Hyde C, Noel-Storr AH, Takwoingi Y, McShane R, Feng J
Cochrane Database Syst Rev 2014 Jul 23;7:CD010386. doi: 10.1002/14651858.CD010386.pub2. PMID: 25052054
Hua Y, Zhao H, Kong Y, Lu X
Int J Neurosci 2014 Apr;124(4):243-51. Epub 2013 Sep 23 doi: 10.3109/00207454.2013.834336. [Epub ahead of print] PMID: 23952620
Robert PH, Konig A, Andrieu S, Bremond F, Chemin I, Chung PC, Dartigues JF, Dubois B, Feutren G, Guillemaud R, Kenisberg PA, Nave S, Vellas B, Verhey F, Yesavage J, Mallea P
J Nutr Health Aging 2013;17(8):653-60. doi: 10.1007/s12603-013-0046-3. PMID: 24097018
Lee L, Sakurai M, Matsuzaki S, Arancio O, Fraser P
Neuromolecular Med 2013 Dec;15(4):720-36. Epub 2013 Aug 25 doi: 10.1007/s12017-013-8257-7. [Epub ahead of print] PMID: 23979993Free PMC Article
Monroe TB, Gore JC, Chen LM, Mion LC, Cowan RL
J Geriatr Psychiatry Neurol 2012 Dec;25(4):240-55. Epub 2012 Dec 31 doi: 10.1177/0891988712466457. [Epub ahead of print] PMID: 23277361

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