PSEN1
Más néven:
Hivatalos név:
PS1 vagy PSEN1 gén mutációvizsgálata
Másnéven: 25-Hidroxi-D vitamin (Kalcidiol); 1.25 Dihidroxi-D vitamin (Kalcitriol)
012.  A cikk utoljára módosult: 27.10.2017.
Mire való a vizsgálat?

Ritka mutáció keresése a PSEN1génben, amelyről ismert, hogy összefügg a családi halmozódású korai Alzheimer-kórral (EOFAD vagy 3-as típusú Alzheimer-kór)

Mikor kell a vizsgálatot elvégezni?

Ha egy felnőtt ember demencia tüneteit mutatja, és családjában halmozottan fordul elő 60-65 éves kor előtt kezdődő Alzheimer-kór, illetve tünetmentes felnőtt ember esetében, ha egy családtagjának PSEN1-mutációra pozitív korai Alzheimer-kórja van.

Milyen mintára van szükség?

A kar könyökhajlati vénájából vett vérmintára vagy szájnyálkahártya-törletre.

Hogyan készüljek elő a vizsgálatra?

Nincs szükség előkészületre.

Áttekintés

Mit vizsgálunk?

Vizsgálat

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Gyakori kérdések

Mire való a vizsgálat?
Mikor kéri az orvos a vizsgálatot?
Mit jelent a vizsgálati eredmény?
Mit kell még tudnom?
Édesapámnál korai kezdetű (3-as típusú) Alzheimer-kórt diagnosztizáltak. Meg tudja állapítani orvosa laboratóriumi vizsgálat nélkül, hogy van-e genetikai mutációja?
Vannak-e más genetikai vizsgálatok az Alzheimer-kór diagnosztizálására?

Kapcsolódó oldalak

Laboratóriumi vizsgálatok
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Állapotok és betegségek
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Máshol az interneten

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Felhasznált irodalom

Aktuális áttekintésben használt források

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.

Korábbi áttekintések során használt források

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.

Mutass többet

Kapcsolódó oldalak

On This Site

Conditions

Alzheimer-kór

Elsewhere On The Web

https://www.nia.nih.gov/health/alzheimers

https://www.alzheimers.gov

https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/in-depth/alzh…

https://www.alz.org/alzheimers-dementia/what-is-alzheimers

https://www.alzheimersreadingroom.com/2011/04/alzheimers-genes-four-known-alzhe…

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