Mutations

MAPT L284R

Overview

Pathogenicity: Other Tauopathy : Pathogenic, Frontotemporal Dementia : Not Pathogenic
Clinical Phenotype: Progressive Supranuclear Palsy
Genomic Mutation Name (MET1):
Genomic Mutation Name (NT1):
dbSNP ID:
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Point, Missense
Codon Change: CTT to CGT

Findings

This mutation was identified in a Caucasian family from southern England. The family has an autosomal-dominant progressive supranuclear palsy syndrome characterized by early falls and a behavioral syndrome. Symptoms typically became apparent in the 40s, with an average disease duration of four to seven years (Rohrer et al., 2011).

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis. 2011;8(3):149-52. Epub 2010 Sep 14 PubMed.

Further Reading

Primary Papers

  1. . Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome. Neurodegener Dis. 2011;8(3):149-52. Epub 2010 Sep 14 PubMed.

Other mutations at this position

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