Mutations

PSEN1 G206S

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.44635G>A
Genomic Mutation Name (NT1): g.61241G>A
dbSNP ID: rs63750569
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGT to AGT

Findings

The G206S mutation has been reported in three families. It was first reported in a single Alzheimer’s disease patient in 2001, although clinical details were not included and segregation with disease could not be determined (Rogaeva et al., 2001).

This mutation was subsequently reported in a large kindred known as “KRI 001” with 15 affected family members. All affected members fulfilled NINCDS-ADRDA criteria for probable or definite Alzheimer’s disease. Age of onset ranged from 30 to 35 in this family. Segregation of the mutation with disease was reportedly demonstrated, but further details were not published (Raux et al., 2005).

In addition, a Korean family with four affected family members has been reported. The proband, known as “patient 2” in the report, experienced symptom onset at age 35 and met NINCDS-ADRDA criteria for probable Alzheimer’s disease. Family members experienced onset in their forties (Park et al., 2008).

Neuropathology

Postmortem analysis has not been reported. Neuroimaging in the Korean proband showed bilateral frontotemporal and parietal hypometabolism by PET and diffuse brain atrophy with enlarged ventricles by CT (Park et al., 2008).

Biological Effect

Unknown.

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References

Paper Citations

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.
  2. . Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20 PubMed.
  3. . Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease. J Korean Med Sci. 2008 Apr;23(2):213-7. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.
  2. . Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005 Oct;42(10):793-5. Epub 2005 Jul 20 PubMed.

Other mutations at this position

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