Article
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
Journal of neurology - 1 Dec 2014
Peall Kathryn J, Kurian Manju A, Wardle Mark, Waite Adrian J, Hedderly Tammy, Lin Jean-Pierre, Smith Martin, Whone Alan, Pall Hardev, White Cathy, Lux Andrew, Jardine Philip E, Lynch Bryan, Kirov George, O'Riordan Sean, Samuel Michael, Lynch Timothy, King Mary D, Chinnery Patrick F, Warner Thomas T, Blake Derek J, Owen Michael J, Morris Huw R
Abstract excerpt
Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest cohort of MDS patients to date, and determined the frequency and type of SGCE mutations. The aim was to establish the motor phenotype in mutation carriers and utility of current diagnostic criteria. Eighty-nine probands with clinical...
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