Mutations

PSEN1 I83T

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73637665 T>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: ATC to ACC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 4

Findings

This mutation was identified in two Tunisian siblings affected by early onset Alzheimer’s disease (Achouri-Rassas et al., 2015). The reported pedigree shows 10 affected individuals over three generations. The siblings, a brother and sister, were diagnosed with AD at the ages of 55 and 64, respectively, meeting NINCDS-ADRDA criteria for probable AD. The siblings presented with prominent behavioral symptoms, along with depression, irritability, and visual hallucinations (Fray et al., 2015). Segregation with disease could not be assessed due to lack of DNA from family members.

Neuropathology

Unknown. MRI showed bilateral atrophy, especially in the parietal and temporal lobes (Fray et al., 2015).

Biological Effect

Unknown. In silico this mutation is predicted to be probably damaging by PolyPhen2.

Last Updated: 22 Jan 2016

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References

Paper Citations

  1. . Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease. Neurobiol Aging. 2015 Oct;36(10):2904.e9-11. Epub 2015 Jun 12 PubMed.
  2. . Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T). J Neural Transm (Vienna). 2016 Apr;123(4):451-3. Epub 2015 Dec 22 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease. Neurobiol Aging. 2015 Oct;36(10):2904.e9-11. Epub 2015 Jun 12 PubMed.

Other mutations at this position

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