Mutations

PSEN2 T430M

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.13615C>T
Genomic Mutation Name (NT1): g.29950C>T
dbSNP ID: rs63750666
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Point, Missense
Codon Change: ACG to ATG

Findings

This mutation was first identified in a Spanish patient with a clinical picture typical of early-onset Alzheimer's disease, with onset at age 45. Later in the course of the disease the proband developed myoclonus, grasping, and generalized epileptic seizures in addition to progressive cognitive and behavioral disturbances. The patient died at age 56. In this family the mutation appears to be inherited in an autosomal-dominant manner, and was also detected in the proband's affected mother. In addition to the proband and the proband's mother, one grandparent had received a diagnosis of AD. The mother died at age 75, following disease onset at age 64, and the grandparent died at age 70, following disease onset at age 60. Some family members also had a history of Tourette syndrome (Lleó et al 2002; Ezquerra et al., 2003).

Neuropathology

Postmortem examination was not performed. Neuroimaging showed right frontotemporal hypoperfusion in the proband (Ezquerra et al., 2003).

Biological Effect

Unknown.

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References

Paper Citations

  1. . Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch Neurol. 2002 Nov;59(11):1759-63. PubMed.
  2. . A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. Arch Neurol. 2003 Aug;60(8):1149-51. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. Arch Neurol. 2003 Aug;60(8):1149-51. PubMed.