Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Position: (GRCh38/hg38):Chr17:46018645 A>T
Position: (GRCh37/hg19):Chr17:44096011 A>T
dbSNP ID: rs63750711
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GAG to GTG
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 12

Findings

The E342V mutation was first identified in a woman with frontotemporal dementia and a family history of FTDP-17. Her presenting symptoms were expressive language difficulties and emotional lability, which became progressively worse over time. She became disoriented, confused, and mildly parkinsonian. She lost most spontaneous speech and died at the age of 55, about seven years after symptom onset (Lippa et al., 2000).

Neuropathology

Prominent frontotemporal neuron loss, cytoplasmic tau aggregates, paired helical tau filaments, increased 4-repeat (4R) tau mRNA, and increased 4R tau without E2 or E3 inserts (4R0N), decreased 4R tau with these inserts (4R1N and 4R2N) (Lippa et al., 2000).

Biological Effect

Unknown.

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References

Paper Citations

1. Lippa CF, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM. Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Ann Neurol. 2000 Dec;48(6):850-8. PubMed.

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database