Mutations

PSEN1 L424F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73685863 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CTC to TTC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 12

Findings

This mutation was found in two members of a Bulgarian family with seven individuals affected by dementia spanning three generations (Mehrabian et al., 2006). One of the mutation carriers was diagnosed with depression at 54 years of age and went on to develop dementia and grand mal epilepsy. The other presented with memory loss, aggression, delusions, and hallucinations at age 60, followed by development of dementia. The additional five affected members also suffered from behavioral abnormalities and dementia.

Neuropathology
Neuropathology data are unavailable. The authors report that neuroimaging in both patients revealed severe brain atrophy with white-matter changes (Mehrabian et al., 2006).

Biological Effect
Unknown.

Last Updated: 09 Apr 2019

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References

Paper Citations

  1. . Novel PSEN1 gene mutation in a large Bulgarian pedigree with Alzheimer's disease and atypical phenotype. Eur J Neurol. 2006;13(Suppl 2):41.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Protein Diagram

Primary Papers

  1. . Novel PSEN1 gene mutation in a large Bulgarian pedigree with Alzheimer's disease and atypical phenotype. Eur J Neurol. 2006;13(Suppl 2):41.

Other mutations at this position

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