Mutations

APP T719P

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr21:27264090 A>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 17
Mutation Type: Point, Missense
Codon Change: ACC to CCC

Findings

This mutation (g.26453775 A>C NC_000021.7) was first identified in a 46-year-old Italian patient with early onset AD. She began experiencing memory deficits at the age of 43 and met NINCDS-ADRDA criteria for probable AD. In addition to memory impairment, she also had apraxia and behavioral disturbances. She had a family history of dementia but segregation could not be evaluated. This variant was not detected in 101 unrelated, elderly, cognitively intact controls (Ghidoni et al., 2009).

Neuropathology

MRI showed atrophy of the temporal lobes (Ghidoni et al., 2009).

Biological Effect

Analysis of cerebral spinal fluid showed reduced total Aβ, especially Aβ1-40 and Aβ1-42, with a relative increase in Aβ1-38 (Ghidoni et al., 2009).

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References

Paper Citations

  1. . Novel T719P AbetaPP mutation unbalances the relative proportion of amyloid-beta peptides. J Alzheimers Dis. 2009;18(2):295-303. PubMed.

Further Reading

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Primary Papers

  1. . Novel T719P AbetaPP mutation unbalances the relative proportion of amyloid-beta peptides. J Alzheimers Dis. 2009;18(2):295-303. PubMed.

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