Mutations

PSEN2 Q228L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.7039A>T
Genomic Mutation Name (NT1): g.23374A>T
dbSNP ID: rs63750880
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: CAG to CTG

Findings

This mutation was identified in a Polish patient. The proband was diagnosed with MCI at the time of the study. Cognitive symptoms surfaced at the age of 60 and included irritability and insomnia, along with mild deficits in memory and short episodes of disorientation. The proband had a positive family history of dementia. Her mother was diagnosed with probable AD at age 80. Segregation could not be assessed, but the Q228L variant was absent in 100 unrelated Polish patients with sporadic AD and 100 unrelated age-matched healthy controls (Zekanowski et al., 2003).

Neuropathology

Unknown.

Biological Effect

Unknown. The substitution affects a residue in transmembrane domain V, which is conserved in PSEN1.

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References

Paper Citations

  1. . Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland. Exp Neurol. 2003 Dec;184(2):991-6. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland. Exp Neurol. 2003 Dec;184(2):991-6. PubMed.