Mutations

PSEN1 L282R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73664814 T>G
dbSNP ID: rs63750050
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTT to CGT

Findings

This mutation was identified in a Spanish woman affected by early onset Alzheimer’s disease (Aldudo et al., 1998). Clinical onset is considered to have occurred at age 49 and she died at age 54. Details related to her clinical symptoms were not reported. Her mother was affected at age 58, and two of her four siblings were affected, both at age 40. The average age of onset in the family was 43 ± 5 years. The average age of death for affected individuals in the family was 56 ± 3 years. Genetic analysis was only available for the proband, therefore segregation with disease could not be formally demonstrated.

Neuropathology

Autopsy of the proband confirmed neuropathology consistent with the diagnosis of AD (Aldudo et al., 1998).

Biological Effect

Unknown.

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References

Paper Citations

  1. . Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease. Neurosci Lett. 1998 Jan 16;240(3):174-6. PubMed.

Further Reading

Papers

  1. . DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations. Hum Mutat. 1999;14(5):433-9. PubMed.
  2. . Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis. 2010;19(3):873-84. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease. Neurosci Lett. 1998 Jan 16;240(3):174-6. PubMed.

Other mutations at this position

Alzpedia