RT Journal Article
T1 Screening study of TUBB4A in isolated dystonia.
A1 Vulinovic, Franca
A1 Schaake, Susen
A1 Domingo, Aloysius
A1 Kumar, Kishore Raj
A1 Defazio, Giovanni
A1 Mir, Pablo
A1 Simonyan, Kristina
A1 Ozelius, Laurie J
A1 Brüggemann, Norbert
A1 Chung, Sun Ju
A1 Rakovic, Aleksandar
A1 Lohmann, Katja
A1 Klein, Christine
K1 Dystonia
K1 H-ABC
K1 Leukodystrophy
K1 TUBB4A
AB 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 mutations in this gene and for the first time determined TUBB4A copy number variations in 336 dystonia patients. A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia.
YR 2017
FD 2017-06-10
LK http://hdl.handle.net/10668/11350
UL http://hdl.handle.net/10668/11350
LA en
DS RISalud
RD Mar 14, 2025