Mutations

APP L705V

Overview

Pathogenicity: Cerebral Amyloid Angiopathy : Pathogenic
Clinical Phenotype: Cerebral Amyloid Angiopathy
Genomic Mutation Name (MET1): g.275305C>G
Genomic Mutation Name (NT1): g.284001C>G
dbSNP ID: rs63750921
Coding/Non-Coding: Coding
Genomic Region: Exon 17
Mutation Type: Point, Missense
Codon Change: CTC to GTC

Findings

This mutation was first reported in a three-generation Italian family with autosomal-dominant, recurrent hemorrhagic stroke in the fifth to eighth decade of life (Obici et al., 2005).

Neuropathology

Pathological examination revealed severe cerebral amyloid angiopathy with evidence of hemorrhages originating from affected vessels and cracking of the vessel walls, creating a “vessel-within-vessel” appearance. The amyloid deposition appeared to selectively affect vessel walls. There was no evidence of Aβ parenchymal deposits (either diffuse or neuritic plaques), nor were neurofibrillary tangles or dystrophic neurites observed (Obici et al., 2005).

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. Ann Neurol. 2005 Oct;58(4):639-44. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. Ann Neurol. 2005 Oct;58(4):639-44. PubMed.