Proceeds from website advertising help sustain Lab Tests Online. AACC is a not-for-profit organization and does not endorse non-AACC products and services.

PSEN1

Print this article
Share this page:
Also known as: PS1; PS-1; Presenilin 1 Gene; S182
Formal name: PS1 or PSEN1 Genetic Mutation Analysis
Related tests: APOE Genotyping; Tau/Aß42; PSEN2; Amyloid Precursor Protein (APP)

Article Sources

« Return to Related Pages

NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.

Sources Used in Current Review

Grandy, J. (2011 June 16). What's new in Alzheimer disease? Biomarkers and gene mutations as aids for detecting AD early. JAAPA [On-line information]. Available online at http://www.jaapa.com/whats-new-in-alzheimer-disease-biomarkers-and-gene-mutations-as-aids-for-detecting-ad-early/article/204451/ through http://www.jaapa.com. Accessed April 2013.

Bird, T. (Revised 2012 October 18). Early-Onset Familial Alzheimer Disease. NCBI GeneReview [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/books/NBK1236/ through http://www.ncbi.nlm.nih.gov. Accessed March 2014.

Mayo Clinic Staff (2011 March 31) Early-onset Alzheimer's: When symptoms begin before age 65. Mayo Clinic [On-line information]. Available online at http://www.mayoclinic.com/print/alzheimers/AZ00009/METHOD=print through http://www.mayoclinic.com. Accessed March 2014.

Bird, T. (Revised 2014 January 30). Alzheimer Disease Overview. NCBI GeneReview [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/books/NBK1161/ through http://www.ncbi.nlm.nih.gov. Accessed March 2014.

Mayo Clinic Staff (2013 February 9). Alzheimer's genes: Are you at risk? Mayo Clinic http://www.mayoclinic.com/health/alzheimers-genes/AZ00047 through http://www.mayoclinic.com. Accessed March 2014.

Anderson, H. (Updated 2014 March 3). Alzheimer Disease. Medscape Reference [On-line information]. Available online at http://emedicine.medscape.com/article/1134817-overview through http://emedicine.medscape.com. Accessed March 2014.

Stetka, B. (2013 April 1). Alzheimer Biomarkers in Clinical Practice. Medscape Today News [On-line information]. Available online at http://www.medscape.com/viewarticle/781533 through http://www.medscape.com. Accessed March 2014.

Sources Used in Previous Reviews

Thomas, Clayton L., Editor (1997). Taber's Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].

Pagana, Kathleen D. & Pagana, Timothy J. (2001). Mosby's Diagnostic and Laboratory Test Reference 5th Edition: Mosby, Inc., Saint Louis, MO.

Sloane, P. (1998, November 1). Advances in the Treatment of Alzheimer's Disease. American Family Physician by the American Academy of Family Physicians [On-line journal]. Available online at http://www.aafp.org/afp/981101ap/sloane.html through http://www.aafp.org.

Eastman, P. (2002 March). Keeping Alzheimer's at Bay, Early Diagnosis Keeps Patients Functioning Longer. AARP Bulletin Online [On-line serial]. Available online at http://www.aarp.org/bulletin/departments/2002/health/0310_health_1.html through http://www.aarp.org.

McConnell, S. et. al. Unraveling the Mysteries of Alzheimer's Disease: Exciting New Developments in Research. From panel sponsored by the Alzheimer's Association [On-line information]. Available online at http://www.asaging.org/am/cia2/alzheimer.html through http://www.asaging.org.

Galasko, D., et. al. (1998). High Cerebrospinal Fluid Tau and Low Amyloid b42 Levels in the Clinical Diagnosis of Alzheimer Disease and Relation to Apolipoprotein E Genotype. Arch Neurol [On-line journal], vol (55) pages (937-945). Available online at http://archneur.ama-assn.org/issues/v55n7/abs/noc7433.html through http://archneur.ama-assn.org.

ARF (1996-2002). Standard Medical Workup for Alzheimer's Disease. Alzheimer Research Forum [On-line information]. Available online at http://www.alzforum.org/members/research/treatment_guide/workup.html through http://www.alzforum.org.

Family Caregiver Alliance. Fact Sheet: Alzheimer's Disease [On-line information]. Available online at http://www.caregiver.org/factsheets/diagnoses/alzheimersC.html through http://www.caregiver.org.

Bird, T. (2001 June 22 last update). Alzheimer Overview. GeneReviews [On-line information. Note: It is necessary to register to use GeneReviews, but it is a free site, funded by the NIH]. Available online through http://www.genetests.org.

Gottlieb, F. and Lambert, J. G., [Updated by] (2002, January 2, last update). Alzheimer's Disease. MEDLINEplus [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000760.htm.

Miller, M. (1998 February 18). 26 national Alzheimer's Disease Centers Collaborate on Study of the Utility of Genetic Testing for Alzheimer's. National Institutes of Health News Release [On-line press release]. Available online at http://www.nia.nih.gov/news/pr/1998/02%2D18.htm through http://www.nia.nih.gov.

NIH (2000). Progress report on Alzheimer's disease, taking the next steps. NIH Publication No. 00-4859 [On-line report]. Available online at http://www.alzheimers.org/pubs/prog00.htm#Introduction through http://www.alzheimers.org.

UniSci (2002, April 08). New Approaches Seen For Early Alzheimer's Diagnosis. Daily University Science News [On-line Article]. Review of two studies found in Neuropsychology, Vol 16 (2). Available online at http://unisci.com/stories/20022/0408025.htm through http://unisci.com.

Eldercare (2002 February 28, last update). Is it Alzheimer's ... or Just Forgetfulness? Sponsored by Nebraska's Area Agencies on Aging [On-line information]. Available online at http://nncf.unl.edu/eldercare/info/lifeline/LLforget.html through http://nncf.unl.edu.

Diagnostic Education, Neurological Disorders, Alzheimer's Disease. Athena Diagnostics [On-line information]. Available online at http://www.athenadiagnostics.com/site/content/neuro_alzheim_dis.asp through http://www.athenadiagnostics.com.

NeuroCast. Neuropathology of Alzheimer's Disease. Athena Diagnostics [On-line information]. Available online at http://www.neurocast.com/site/content/sessions_Neuro_Alzheimer's.shtml through http://www.neurocast.com.

NeuroCast. Biochemistry of Alzheimer's Disease. Athena Diagnostics [On-line information]. Available online at http://www.neurocast.com/site/content/sessions_Biochemistry_Alzheimer's.shtml through http://www.neurocast.com.

Hain, T. (2000 February 13). Alzheimer's Disease. Neurology, Northwestern University Medical School [3rd year neurology medical student curriculum material]. Available online at http://www.neuro.nwu.edu/meded/behavioral/alzheimers.html through http://www.neuro.nwu.edu.

Kleiner-Fisman, G., Updated by (2002 January 2, last update). CSF Collection. MEDLINEplus [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003428.htm.

(Reviewed 2008 December). PSEN1. Genetics Home Reference [On-line information]. Available online at http://ghr.nlm.nih.gov/gene=psen1 through http://ghr.nlm.nih.gov. Accessed August 2009.

Bird, T. (Revised 2009 April 28). Early-Onset Familial Alzheimer Disease. GeneReviews [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene∂=alzheimer-early through http://www.ncbi.nlm.nih.gov. Accessed August 2009.

Anderson, H et. al. (Updated 2009 June 18). Alzheimer Disease. emedicine [On-line information]. Available online at http://emedicine.medscape.com/article/1134817-overview through http://emedicine.medscape.com. Accessed August 2009.

Rogaeva, E. (2009 February 5). The Genetic Profile of Alzheimer's Disease: Updates and Considerations. Medscape Today from Geriatrics & Aging [On-line information]. Available online at http://www.medscape.com/viewarticle/586756 through http://www.medscape.com. Accessed August 2009.

Mayo Clinic Staff (2008 September 17). Alzheimer's: Is it in your genes? MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/health/alzheimers-genes/AZ00047 through http://www.mayoclinic.com. Accessed August 2009.