Mutations

PSEN1 N32N

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Alzheimer's Disease, None
Genomic Mutation Name (MET1): g.22781T>C
Genomic Mutation Name (NT1): g.39335T>C
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Silent
Codon Change: AAT to AAC

Findings

This is a silent polymorphism, considered most likely not pathogenic. It was first reported in a Caucasian woman from northern Italy who was diagnosed with probable Alzheimer’s disease according to NINCDS-ADRDA criteria. She experienced symptom onset at age 81 and did not have a family history of dementia, consistent with sporadic AD. Segregation analysis was not possible in this case. The T>C polymorphism was absent in 114 healthy unrelated individuals, but the reporting authors indicated that the polymorphism was most likely not pathogenic due to the fact that it was a synonymous change and in a position not conserved in PSEN2 or in other species (Scacchi et al., 2007).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease. Neurosci Lett. 2007 May 18;418(3):282-5. Epub 2007 Mar 21 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease. Neurosci Lett. 2007 May 18;418(3):282-5. Epub 2007 Mar 21 PubMed.