Format

Send to

Choose Destination
Parkinsonism Relat Disord. 2017 Aug;41:118-120. doi: 10.1016/j.parkreldis.2017.06.001. Epub 2017 Jun 10.

Screening study of TUBB4A in isolated dystonia.

Author information

1
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
2
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Graduate School Lübeck, Lübeck, Germany.
3
Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital, The University of Sydney, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia.
4
Department of Neurologic and Psychiatric Sciences, University of Bari, Italy.
5
Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
6
Department of Neurology, Icahn School of Medicine at Mount Sinai New York City, New York, United States.
7
Department of Neurology, Massachusetts General Hospital, Boston, United States.
8
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University of Lübeck, Lübeck, Germany.
9
Department of Neurology, Asan Medical Center, University of Ulsan, Seoul, South Korea.
10
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: christine.klein@neuro.uni-luebeck.de.

Abstract

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.

KEYWORDS:

Dystonia; H-ABC; Leukodystrophy; TUBB4A

PMID:
28655586
PMCID:
PMC5769152
DOI:
10.1016/j.parkreldis.2017.06.001
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center