ALS Compendium

Title: Novel TARDBP mutations in Nordic ALS patients

Year Published: 2012

Observation: found two previously reported (p.A90V and p.S379P) and two novel (p.G357R and p.R361T) missense variations in three familial ALS patients. The p.A90V and p.G357R variations were detected in the same patient and p.R361T was present in a family with both ALS and frontotemporal dementia-ALS. None of the missense variations were present in 200 neurologically healthy controls.

Comment: Found 9 genetc variations (4 missense, 5 non-coding) in TARDBP in Nordic patients

Citation: Chiang, H.-H., Andersen, P. M., Tysnes, O.-B., Gredal, O., Christensen, P. B., & Graff, C. (2012). Novel TARDBP mutations in Nordic ALS patients. Journal of Human Genetics, 57(5), 316–9. doi:10.1038/jhg.2012.24

Back to Homepage