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POLG mutation presenting with late-onset jerky torticollis

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Acknowledgments

BvdW receives research support from the Prinses Beatrix Fonds, Netherlands Brain Foundation, the Royal Dutch Society for Physical Therapy, and the Gossweiler Foundation.

Conflicts of interest

AMT and FM have nothing to disclose.

Ethical standard

Informed consent was obtained from the patient prior to her inclusion in the study.

Author information

Correspondence to Bart P. van de Warrenburg.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Mild torticollis to the left with a side-to-side, jerky head tremor. (WMV 3904 kb)

Mild torticollis to the left with a side-to-side, jerky head tremor. (WMV 3904 kb)

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Tuladhar, A.M., Meijer, F.J.A. & van de Warrenburg, B.P. POLG mutation presenting with late-onset jerky torticollis. J Neurol 260, 903–905 (2013) doi:10.1007/s00415-012-6776-z

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Keywords

  • Spinocerebellar Ataxia
  • Cervical Dystonia
  • Myoclonic Jerk
  • Cerebellar White Matter
  • Alexander Disease