Mutations

PSEN2 V139M

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease, None
Genomic Mutation Name (MET1): g.3687G>A
Genomic Mutation Name (NT1): g.20025G>A
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: GTG to ATG

Findings

This mutation was identified in a patient who experienced symptom onset at age 76 with the development of memory and language deficits. Disease progression was slow, but 10 years after symptom onset his speech was incomprehensible and he was unable to recognize his children. He received a diagnosis of late-onset Alzheimer's disease. There was a family history of dementia in the proband's father (death at age 80) and two sisters (death at age 79 and 83), but segregation could not be assessed. This mutation was not detected in 100 age-matched cognitively heathy controls, but pathogenicity could not be definitively established. The proband also carried a known polymorphism in PSEN1, E318G (Bernardi et al., 2008).

Neuropathology

The proband was reported to have bilateral hypoperfusion in the parietal-temporal lobes (Bernardi et al., 2008).

Biological Effect

Unknown. This residue is not conserved in PSEN1.

 

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References

Mutations Citations

  1. PSEN1 E318G

Paper Citations

  1. . Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism. J Neurol. 2008 Apr;255(4):604-6. Epub 2008 Mar 25 PubMed.

Further Reading

Papers

  1. . PS1 polymporphism and a novel PS2 mutation in a patient with late-onset familial Alzheimer's disease. Alzheimer's & Dementia 4 Supp 2: T585, 2008

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism. J Neurol. 2008 Apr;255(4):604-6. Epub 2008 Mar 25 PubMed.