Carol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey M G Ragagnin, Zac Chatterton, Francine Carew-Jones, Claire E Shepherd, Holly Stefen, Esmeralda Paric, Thomas Fath, Elizabeth M Thompson, Peter Blumbergs, Cathy L Short, Colin D Field, Peter K Panegyres, Jane Hecker, Garth Nicholson, Alex D Shaw, Janice M Fullerton, Agnes A Luty, Peter R Schofield, William S Brooks, Neil Rajan, Mark F Bennett, Melanie Bahlo, John E Landers, Olivier Piguet, John R Hodges, Glenda M Halliday, Simon D Topp, Bradley N Smith, Christopher E Shaw, Emily McCann, Jennifer A Fifita, Kelly L Williams, Julie D Atkin, Ian P Blair, John B Kwok
Frontotemporal dementia and amyotrophic lateral sclerosis are clinically and pathologically overlapping disorders with shared genetic causes. We previously identified a disease locus on chromosome 16p12.1-q12.2 with genome-wide significant linkage in a large European Australian family with autosomal dominant inheritance of frontotemporal dementia and amyotrophic lateral sclerosis and no mutation in known amyotrophic lateral sclerosis or dementia genes. Here we demonstrate the segregation of a novel missense variant in CYLD (c...
March 1, 2020: Brain