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Alzheimer disease, type 5(AD5)

MedGen UID:
356103
Concept ID:
C1865868
Disease or Syndrome
Synonyms: AD5; ALZHEIMER DISEASE, FAMILIAL, 5
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
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).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 602096

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

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).

Professional guidelines

PubMed

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

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
Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen CH, Holland D, Brewer JB, Franke A, Dillon WP, Wilson DM, Mukherjee P, Hess CP, Miller Z, Bonham LW, Shen J, Rabinovici GD, Rosen HJ, Miller BL, Hyman BT, Schellenberg GD, Karlsen TH, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative.
JAMA Neurol 2016 Jun 1;73(6):691-7. doi: 10.1001/jamaneurol.2016.0150. PMID: 27088644Free PMC Article
Bei L, Shui YB, Bai F, Nelson SK, Van Stavern GP, Beebe DC
Exp Eye Res 2015 Nov;140:117-23. Epub 2015 Mar 13 doi: 10.1016/j.exer.2015.03.010. PMID: 25773986Free PMC Article
Oskarsson ME, Paulsson JF, Schultz SW, Ingelsson M, Westermark P, Westermark GT
Am J Pathol 2015 Mar;185(3):834-46. Epub 2015 Feb 17 doi: 10.1016/j.ajpath.2014.11.016. PMID: 25700985
Butterfield DA, Di Domenico F, Barone E
Biochim Biophys Acta 2014 Sep;1842(9):1693-706. Epub 2014 Jun 17 doi: 10.1016/j.bbadis.2014.06.010. PMID: 24949886Free PMC Article

Diagnosis

Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen CH, Holland D, Brewer JB, Franke A, Dillon WP, Wilson DM, Mukherjee P, Hess CP, Miller Z, Bonham LW, Shen J, Rabinovici GD, Rosen HJ, Miller BL, Hyman BT, Schellenberg GD, Karlsen TH, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative.
JAMA Neurol 2016 Jun 1;73(6):691-7. doi: 10.1001/jamaneurol.2016.0150. PMID: 27088644Free PMC Article
Bei L, Shui YB, Bai F, Nelson SK, Van Stavern GP, Beebe DC
Exp Eye Res 2015 Nov;140:117-23. Epub 2015 Mar 13 doi: 10.1016/j.exer.2015.03.010. PMID: 25773986Free PMC Article
Liljegren M, Naasan G, Temlett J, Perry DC, Rankin KP, Merrilees J, Grinberg LT, Seeley WW, Englund E, Miller BL
JAMA Neurol 2015 Mar;72(3):295-300. doi: 10.1001/jamaneurol.2014.3781. PMID: 25559744Free PMC Article
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. PMID: 24423328

Therapy

Makhaeva GF, Lushchekina SV, Boltneva NP, Sokolov VB, Grigoriev VV, Serebryakova OG, Vikhareva EA, Aksinenko AY, Barreto GE, Aliev G, Bachurin SO
Sci Rep 2015 Aug 18;5:13164. doi: 10.1038/srep13164. PMID: 26281952Free PMC Article
Beauchet O, Launay CP, Montero-Odasso M, Annweiler C, Allali G
Curr Alzheimer Res 2015;12(8):761-71. PMID: 26159199
Shao H, Breitner JC, Whitmer RA, Wang J, Hayden K, Wengreen H, Corcoran C, Tschanz J, Norton M, Munger R, Welsh-Bohmer K, Zandi PP; Cache County Investigators.
Neurology 2012 Oct 30;79(18):1846-52. Epub 2012 Oct 24 doi: 10.1212/WNL.0b013e318271f823. PMID: 23100399Free 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
Plastino M, Fava A, Pirritano D, Cotronei P, Sacco N, Sperlì T, Spanò A, Gallo D, Mungari P, Consoli D, Bosco D
J Neurol Sci 2010 Jan 15;288(1-2):112-6. doi: 10.1016/j.jns.2009.09.022. PMID: 19836029

Prognosis

Bei L, Shui YB, Bai F, Nelson SK, Van Stavern GP, Beebe DC
Exp Eye Res 2015 Nov;140:117-23. Epub 2015 Mar 13 doi: 10.1016/j.exer.2015.03.010. PMID: 25773986Free PMC Article
Thomas JB, Brier MR, Bateman RJ, Snyder AZ, Benzinger TL, Xiong C, Raichle M, Holtzman DM, Sperling RA, Mayeux R, Ghetti B, Ringman JM, Salloway S, McDade E, Rossor MN, Ourselin S, Schofield PR, Masters CL, Martins RN, Weiner MW, Thompson PM, Fox NC, Koeppe RA, Jack CR Jr, Mathis CA, Oliver A, Blazey TM, Moulder K, Buckles V, Hornbeck R, Chhatwal J, Schultz AP, Goate AM, Fagan AM, Cairns NJ, Marcus DS, Morris JC, Ances BM
JAMA Neurol 2014 Sep;71(9):1111-22. doi: 10.1001/jamaneurol.2014.1654. PMID: 25069482Free PMC Article
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. PMID: 24423328
Vos SJ, van Rossum IA, Verhey F, Knol DL, Soininen H, Wahlund LO, Hampel H, Tsolaki M, Minthon L, Frisoni GB, Froelich L, Nobili F, van der Flier W, Blennow K, Wolz R, Scheltens P, Visser PJ
Neurology 2013 Mar 19;80(12):1124-32. Epub 2013 Feb 27 doi: 10.1212/WNL.0b013e318288690c. PMID: 23446677

Clinical prediction guides

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
Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen CH, Holland D, Brewer JB, Franke A, Dillon WP, Wilson DM, Mukherjee P, Hess CP, Miller Z, Bonham LW, Shen J, Rabinovici GD, Rosen HJ, Miller BL, Hyman BT, Schellenberg GD, Karlsen TH, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative.
JAMA Neurol 2016 Jun 1;73(6):691-7. doi: 10.1001/jamaneurol.2016.0150. PMID: 27088644Free PMC Article
Bei L, Shui YB, Bai F, Nelson SK, Van Stavern GP, Beebe DC
Exp Eye Res 2015 Nov;140:117-23. Epub 2015 Mar 13 doi: 10.1016/j.exer.2015.03.010. PMID: 25773986Free PMC Article
Thomas JB, Brier MR, Bateman RJ, Snyder AZ, Benzinger TL, Xiong C, Raichle M, Holtzman DM, Sperling RA, Mayeux R, Ghetti B, Ringman JM, Salloway S, McDade E, Rossor MN, Ourselin S, Schofield PR, Masters CL, Martins RN, Weiner MW, Thompson PM, Fox NC, Koeppe RA, Jack CR Jr, Mathis CA, Oliver A, Blazey TM, Moulder K, Buckles V, Hornbeck R, Chhatwal J, Schultz AP, Goate AM, Fagan AM, Cairns NJ, Marcus DS, Morris JC, Ances BM
JAMA Neurol 2014 Sep;71(9):1111-22. doi: 10.1001/jamaneurol.2014.1654. PMID: 25069482Free PMC Article
Butterfield DA, Di Domenico F, Barone E
Biochim Biophys Acta 2014 Sep;1842(9):1693-706. Epub 2014 Jun 17 doi: 10.1016/j.bbadis.2014.06.010. PMID: 24949886Free PMC Article

Recent systematic reviews

Tang M, Ryman DC, McDade E, Jasielec MS, Buckles VD, Cairns NJ, Fagan AM, Goate A, Marcus DS, Xiong C, Allegri RF, Chhatwal JP, Danek A, Farlow MR, Fox NC, Ghetti B, Graff-Radford NR, Laske C, Martins RN, Masters CL, Mayeux RP, Ringman JM, Rossor MN, Salloway SP, Schofield PR, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN).
Lancet Neurol 2016 Dec;15(13):1317-1325. Epub 2016 Oct 21 doi: 10.1016/S1474-4422(16)30229-0. PMID: 27777020Free PMC Article
Liu S, Zeng F, Wang C, Chen Z, Zhao B, Li K
Sci Rep 2015 Sep 4;5:13598. doi: 10.1038/srep13598. PMID: 26337484Free PMC Article
Beauchet O, Launay CP, Montero-Odasso M, Annweiler C, Allali G
Curr Alzheimer Res 2015;12(8):761-71. PMID: 26159199
Vagelatos NT, Eslick GD
Epidemiol Rev 2013;35:152-60. Epub 2013 Jan 11 doi: 10.1093/epirev/mxs012. PMID: 23314404
Vellas B, Gauthier S, Allain H, Andrieu S, Aquino JP, Berrut G, Berthel M, Blanchard F, Camus V, Dartigues JF, Dubois B, Forette F, Franco A, Gonthier R, Grand A, Hervy MP, Jeandel C, Joel ME, Jouanny P, Lebert F, Michot P, Montastruc JL, Nourhashemi F, Ousset PJ, Pariente J, Rigaud AS, Robert P, Ruault G, Strubel D, Touchon J, Verny M, Vetel JM
J Nutr Health Aging 2005 Sep-Oct;9(5):330-8. PMID: 16222399

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