ALS Compendium

Title:Exome sequencing reveals VCP mutations as a cause of familial ALS

Year Published: 2010

Observation: used whole-exome sequencing to identify a pathogenic VCP variant in an autosomal dominant Italian family with an ALS phenotype, and subsequently found that VCP mutations were present in 1-2% of a large cohort of fALS cases from unrelated families

Comment: VCP mutations may account for ∼1%-2% of fALS

Citation: Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., … Traynor, B. J. (2010). Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron, 68(5), 857–64. doi:10.1016/j.neuron.2010.11.036

Back to Homepage