Article
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain : a journal of neurology - 1 Jun 2017
Minnerop Martina, Kurzwelly Delia, Wagner Holger, Soehn Anne S, Reichbauer Jennifer, Tao Feifei, Rattay Tim W, Peitz Michael, Rehbach Kristina, Giorgetti Alejandro, Pyle Angela, Thiele Holger, Altmüller Janine, Timmann Dagmar, Karaca Ilker, Lennarz Martina, Baets Jonathan, Hengel Holger, Synofzik Matthis, Atasu Burcu, Feely Shawna, Kennerson Marina, Stendel Claudia, Lindig Tobias, Gonzalez Michael A, Stirnberg Rüdiger, Sturm Marc, Roeske Sandra, Jung Johanna, Bauer Peter, Lohmann Ebba, Herms Stefan, Heilmann-Heimbach Stefanie, Nicholson Garth, Mahanjah Muhammad, Sharkia Rajech, Carloni Paolo, Brüstle Oliver, Klopstock Thomas, Mathews Katherine D, Shy Michael E, de Jonghe Peter, Chinnery Patrick F, Horvath Rita, Kohlhase Jürgen, Schmitt Ina, Wolf Michael, Greschus Susanne, Amunts Katrin, Maier Wolfgang, Schöls Ludger, Nürnberg Peter, Zuchner Stephan, Klockgether Thomas, Ramirez Alfredo, Schüle Rebecca
Abstract excerpt
Despite extensive efforts, half of patients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically unexplained, implicating novel genes and unrecognized mutations in known genes. Non-coding DNA variants are suspected to account for a substantial part of undiscovered causes of rare diseases. Here we identified mutations located deep in introns of POLR3A to be...
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