Mutations

PSEN2 Y231C

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.7048A>G
Genomic Mutation Name (NT1): g.23383A>G
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: TAC to TGC

Findings

This mutation was reported in an Italian patient who developed behavioral abnormalities and language impairment that resembled frontotemporal dementia at the age of 52. Later in the course of the disease he developed more extensive cognitive impairment, including severe impairment of visuospatial perception, visual attention, and visuomotor coordination. The proband also developed hallucinations, delusions, and severe psychomotor agitation. There was a family history of dementia. The proband's mother died at age 83 with a history of dementia from age 65. The mother’s sister died at age 80 with a diagnosis of Parkinson’s disease. Segregation could not be assessed, but the Y231C mutation was not found in 100 healthy controls or in 100 patients with sporadic AD (Marcon et al., 2009).

Neuropathology

Unknown. MRI showed subcortical and diffuse cortical atrophy, particularly in the frontotemporoparietal lobes (Marcon et al., 2009).

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype. J Alzheimers Dis. 2009;16(3):509-11. PubMed.

Further Reading

Papers

  1. . A novel missense mutation in Psen2 gene associated with a clinical phenotype of frontotemporal dementia. Alzheimer's & Dementia 4 Supp 2: T590, 2008

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype. J Alzheimers Dis. 2009;16(3):509-11. PubMed.