Mutations

PSEN1 T116I

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25550C>T
Genomic Mutation Name (NT1): g.42104C>T
dbSNP ID: rs63750730
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ACC to ATC

Findings

This mutation was first reported in a 48 year-old Italian woman with a three year history of progressive memory impairment. She did not have a family history of dementia so the mutation may have arisen de novo; however, it may have been transmitted through the maternal line. The proband’s mother and maternal grandmother died in their 40s from unrelated causes (bone cancer and an accident, respectively) so it is unknown whether they would have developed dementia had they lived. The mutation was absent in the patient’s father and in 100 healthy unrelated controls (La Bella et al., 2004).

The mutation was also detected in a family known as “ANG 008” in which four family members were affected by dementia with onset at ages 40-47 years. Family members met NINCDS-ADRDA criteria for Alzheimer’s disease; postmortem confirmation was not available (Raux et al., 2005).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease. Eur J Neurol. 2004 Aug;11(8):521-4. PubMed.
  2. . Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease. Eur J Neurol. 2004 Aug;11(8):521-4. PubMed.

Other mutations at this position

View Table