Mutations

PSEN1 L282F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73664813 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CTT to TTT

Findings

This mutation was identified in a Japanese woman diagnosed with probable Alzheimer’s disease based on NINCDS-ADRDA criteria (Hamaguchi et al., 2009). She started to develop memory impairment at age 53. She had a family history of dementia, but genetic analysis was performed only on the proband. Her sister was diagnosed with dementia at the age of 49. The proband's mother died at the age of 80 without dementia. Two of the mother’s five siblings developed dementia, one in her 60s and one in her 50s. The proband’s father had died young without dementia. Information is not available about the paternal line, therefore it remains unclear if the mutation was transmitted through the maternal line with incomplete penetrance observed in the proband’s mother.

Neuropathology

Unknown. MRI of the proband showed mild medial temporal atrophy. FDG-PET showed glucose hypometabolism in the bilateral parietal cortices and posterior cingulate gyri (Hamaguchi et al., 2009).

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel presenilin 1 mutation (L282F) in familial Alzheimer's disease. J Neurol. 2009 Sep;256(9):1575-7. PubMed.

Further Reading

Papers

  1. . Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1. Stem Cell Res. 2016 Sep 28;17(3):470-473. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . A novel presenilin 1 mutation (L282F) in familial Alzheimer's disease. J Neurol. 2009 Sep;256(9):1575-7. PubMed.

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