Article
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
American journal of human genetics - 8 Jan 2026
Fasham James, Rankin Julia, Schot Rachel, White Susan M, Bell Katrina M, Wakeling Matthew N, Mallin Lucy J, Shah Alex, de Silva Michelle G, Francis David I, Walsh Maie, Jones Emily E, Vijayakumar Kayal, Johnson Katie, Sansbury Francis H, Te Water Naudé Johann, Giunti Paola, Hadjivassiliou Marios, Nemeth Andrea H, Tofaris George K, Rinaldi Carlo, Banos-Pinero Benito, Selikhva Marianna, Ubeyratna Nishanka, Kievit Anneke, Sleutels Frank, van Giessen Joey, Barakat Tahsin Stefan, Hall Timothy S, Whone Alan, Thomas Eleanor, Leslie Joseph S, Bamford Rosemary A, Jeffries Aaron R, Lord Jenny, Walker Susan, van Ham Tjakko J, Hill Sue L, McGavin Lucy, Parrish Andrew, Crosby Andrew H, Baple Emma L, Pagnamenta Alistair T
Abstract excerpt
Complex neurodegenerative conditions have occasionally been associated with copy-number gains. Using microarray and genome sequencing on DNA samples from eleven individuals from nine unrelated families, we show that copy-number gains at 16p13.3 cause a severe, recognizable disorder characterized by early-onset progressive ataxia and cognitive decline (9-32 years). Most affected individuals also displayed...
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