Article
Mutations in GNAL: a novel cause of craniocervical dystonia.
JAMA neurology - 1 Apr 2014
Kumar Kishore R, Lohmann Katja, Masuho Ikuo, Miyamoto Ryosuke, Ferbert Andreas, Lohnau Thora, Kasten Meike, Hagenah Johann, Brüggemann Norbert, Graf Julia, Münchau Alexander, Kostic Vladimir S, Sue Carolyn M, Domingo Aloysius R, Rosales Raymond L, Lee Lilian V, Freimann Karen, Westenberger Ana, Mukai Youhei, Kawarai Toshitaka, Kaji Ryuji, Klein Christine, Martemyanov Kirill A, Schmidt Alexander
Abstract excerpt
IMPORTANCE: Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with...
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