GTR Home > Tests > Alzheimer Disease Type 3

Overview

Test order codeHelp: PSEN1

Test name

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Alzheimer Disease Type 3 (PSEN1)

Purpose of the test

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This is a clinical test intended for Help: Mutation Confirmation, Pre-symptomatic, Risk Assessment

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity

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EOFAD is diagnosed in families with multiple affected individuals with mean age of onset before 65 years and/or with a documented disease-causing mutation in one of the genes known to be associated with EOFAD. The three clinically indistinguishable subtypes of EOFAD based on the underlying genetic mechanism are: Alzheimer disease type 1 (AD1), caused by mutations in APP (10%-15% of EOFAD); Alzheimer disease type 3 (AD3), caused by mutations in PSEN1, (30%-70% of EOFAD); and Alzheimer disease type 4 (AD4), caused by mutations in PSEN2 (<5% of EOFAD). Kindreds with autosomal dominant EOFAD with no identifiable mutations in PSEN1, PSEN2, or APP have been described; thus, it is likely that mutations in additional genes are causative. Molecular genetic testing for PSEN1, PSEN2, and APP is available on a clinical basis.

Citations

Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • Walker ES, Martinez M, Brunkan AL, Goate A. Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. J Neurochem. 2005;92:294–301. Wijsman EM, Daw EW, Yu X, Steinbart EJ, Nochlin D, Bird TD, Schellenberg GD. APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. Am J Med Genet B Neuropsychiatr Genet. 2005;132B:14–20. Wong PC, Zheng H, Chen H, Becher MW, Sirinathsinghji DJ, Trumbauer ME, Chen HY, Price DL, Van der Ploeg LH, Sisodia SS. Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm. Nature. 1997;387:288–92. Yescas P, Huertas-Vazquez A, Villarreal-Molina MT, Rasmussen A, Tusié-Luna MT, López M, Canizales-Quinteros S, Alonso ME. Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. Neurogenetics. 2006;7:195–200. Yu CE, Marchani E, Nikisch G, Müller U, Nolte D, Hertel

How to order

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Clinical resources

Practice guidelines

  • EFNS, 2010
    EFNS guidelines for the diagnosis and management of Alzheimer&apos;s disease.
  • AHRQ, 2010
    Preventing Alzheimer&apos;s disease and cognitive decline.

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