Mutations

PSEN1 F105L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.23000T>G
Genomic Mutation Name (NT1): g.39554T>G
dbSNP ID: rs63750321
Coding/Non-Coding: Coding
Genomic Region: Exon 4
Mutation Type: Point, Missense
Codon Change: TTT to TTG

Findings

This mutation was identified in a patient from Germany identified as “patient 2” (Finckh et al., 2000). The patient experienced symptom onset at age 52 and was diagnosed with probable Alzheimer’s disease at age 59 with an MMSE score of 13 out of 30. At age 60 she developed “Parkinson-like symptoms” and died with severe dementia at age 63. Autopsy excluded Parkinson’s disease and confirmed the diagnosis of AD. Family history included early-onset dementia in the patient’s mother (onset approximately age 50) and maternal grandmother (onset < 60 years), but segregation analysis was not possible.

Neuropathology

Neuropathology consistent with AD was seen at autopsy including numerous neurofibrillary tangles and senile plaques in the hippocampus with scattered plaques in the cortex (Finckh et al., 2000).

Biological Effect

Unknown.

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References

Paper Citations

  1. . High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet. 2000 Jan;66(1):110-7. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet. 2000 Jan;66(1):110-7. PubMed.

Other mutations at this position

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