Mutations

PSEN1 G206V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.44636G>T
Genomic Mutation Name (NT1): g.61242G>T
dbSNP ID: rs63750082
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGT to GTT

Findings

This mutation has been reported in the proband of a family with multigenerational, early onset Alzheimer’s disease. The reported pedigree shows four affected individuals over three generations. The proband, EN, developed disorientation at age 30 with insidious onset of memory impairment. He died at 39 with a diagnosis of AD. His mother died of autopsy-confirmed AD at age 42, with onset in her early 30s. Her first symptoms were confusion, handwriting changes, word-finding problems, short-term memory loss, and anger. She later developed severe loss of language and motor skills, disorientation, seizures, and blindness. The proband’s maternal grandfather died of an unspecified dementia in his early 40s. The G206V mutation was hypothesized to be pathogenic, but confirmation was not possible in this family as the other affected family members were predeceased (Goldman et al., 2002).

Neuropathology

Unknown. MRI of the proband showed mild atrophy of the brain with normal temporal lobes.  

Biological Effect

Unknown.

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References

Paper Citations

  1. . Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation. Int J Geriatr Psychiatry. 2002 Jul;17(7):649-51. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation. Int J Geriatr Psychiatry. 2002 Jul;17(7):649-51. PubMed.

Other mutations at this position

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