Mutations

MAPT T427M

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Genomic Mutation Name (MET1): g.137535C>T
Genomic Mutation Name (NT1): g.134713C>T
dbSNP ID: rs63750991
Coding/Non-Coding: Coding
Genomic Region: Exon 13
Mutation Type: Point, Missense
Codon Change: ACG to ATG

Findings

The T427M mutation was first described in an Italian patient with a family history of dementia and clinical features typical of frontotemporal dementia. Starting at age 60 she developed language disturbance and personality changes with apathy. Although her cognition was affected later in the course of the disease, her memory and spatial skills were relatively spared. The patient died at age 67 and no autopsy was performed. The mutation was absent in the proband's two unaffected sisters (ages 64 and 53), as well as in 150 control individuals and 150 other people with dementia (Giaccone et al., 2005).

Neuropathology

Unknown. MRI showed moderate frontotemporal atrophy, more prominent on the left (Giaccone et al., 2005).

Biological Effect

Unknown.

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References

Paper Citations

  1. . Familial frontotemporal dementia associated with the novel MAPT mutation T427M. J Neurol. 2005 Dec;252(12):1543-5. Epub 2005 Jun 6 PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Familial frontotemporal dementia associated with the novel MAPT mutation T427M. J Neurol. 2005 Dec;252(12):1543-5. Epub 2005 Jun 6 PubMed.