Mutations

PSEN1 E120D (A>T)

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.25563A>T
Genomic Mutation Name (NT1): g.42117A>T
dbSNP ID: rs63751272
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: GAA to GAT

Findings

This mutation was first identified in two Israeli siblings with a family history of early onset Alzheimer’s disease accompanied by seizures. The reported pedigree included four affected individuals over three generations. The proband experienced onset of progressive memory impairment and disorientation at age 48. His father died at age 55 with similar symptoms. The proband’s two siblings, a sister and a brother, experienced progressive cognitive dysfunction at ages 43 and 46 years respectively, and developed epileptic seizures within 18 months of symptom onset (Reznik-Wolf et al., 1996).

In a paper investigating patterns of pathology associated with various familial AD mutations, two brain specimens from patients carrying E120D mutations were analyzed, but it was not indicated whether these individuals carried the A>T or A>C transversion. Age of onset in these individuals was recorded as 34 and 53 and age at death as 51 and 62 years, respectively. Language loss, seizures, and rigidity were noted as clinical features (Mann et al., 2001).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis. Hum Genet. 1996 Dec;98(6):700-2. PubMed.
  2. . Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease. Am J Pathol. 2001 Jun;158(6):2165-75. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis. Hum Genet. 1996 Dec;98(6):700-2. PubMed.

Other mutations at this position

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