Mutations

PSEN1 G209V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659429 G>T
dbSNP ID: rs63750053
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGA to GTA

Findings

This mutation was among the first PSEN1 mutations identified. It was found in a large German pedigree, known as family L (Poorkaj et al., 1998). This family included at least 19 family members affected by early onset Alzheimer’s disease. Eight affected family members were confirmed to carry the mutation, strongly suggesting pathogenicity. The average age of onset in this family was 41.3 ± 4.5 years of age.  Disease in family L was characterized by onset of dementia before the age of 50, progressive aphasia, early myoclonus and generalized seizures, and paratonia (involuntary resistance to passive movement) (Lampe et al., 1994).

Neuropathology

The diagnosis of AD was confirmed in at least nine mutation carriers from the L family. Neuropathological findings included cortical atrophy, extensive amyloid plaques and neurofibrillary tangles, and prominent amyloid angiopathy (Lampe et al., 1994).

Biological Effect

Unknown.

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References

Paper Citations

  1. . Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum Mutat. 1998;11(3):216-21. PubMed.
  2. . Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol. 1994 Sep;36(3):368-78. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum Mutat. 1998;11(3):216-21. PubMed.

Other mutations at this position

Alzpedia