Overview

Pathogenicity: Other Tauopathy : Pathogenic
Clinical Phenotype: Other Tauopathy
Reference Assembly: GRCh37/hg19
Position: Chr17:44096041 C>T
dbSNP ID: rs63750425
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: TCG to TTG
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 12

Findings

This mutation was identified in an English family referred to as the Yorkshire kindred. It was found in a pair of siblings with aggressive early onset hereditary tauopathy, who presented with acute respiratory failure. The parents were unaffected (at least at the time of assessment) despite carrying the S352L mutation. The disease is thought to have a recessive mode of inheritance, but may also be a dominant disorder with reduced penetrance (Nicholl et al., 2003).

Neuropathology

Extensive tau neuropathology was observed at autopsy (Nicholl et al., 2003).

Biological Effect

Recombinant S352L tau exhibited reduced microtubule binding and accelerated filament formation (Nicholl et al., 2003).

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References

Paper Citations

1. Nicholl DJ, Greenstone MA, Clarke CE, Rizzu P, Crooks D, Crowe A, Trojanowski JQ, Lee VM, Heutink P. An English kindred with a novel recessive tauopathy and respiratory failure. Ann Neurol. 2003 Nov;54(5):682-6. PubMed.

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database