Article
Screening study of TUBB4A in isolated dystonia.
Parkinsonism & related disorders - 1 Aug 2017
Vulinovic Franca, Schaake Susen, Domingo Aloysius, Kumar Kishore Raj, Defazio Giovanni, Mir Pablo, Simonyan Kristina, Ozelius Laurie J, Brüggemann Norbert, Chung Sun Ju, Rakovic Aleksandar, Lohmann Katja, Klein Christine
Abstract excerpt
Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A mutations in different ethnicities (Spanish, Italian, Korean, Japanese), we screened 492 isolated dystonia cases for...
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