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Images in Neurology
November 2015

A Woman With a Novel Mutation of THAP1 With a Prominent Response to Deep Brain Stimulation of the Globus Pallidus Internus

Author Affiliations
  • 1Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland
  • 2Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland
JAMA Neurol. 2015;72(11):1369. doi:10.1001/jamaneurol.2015.1954

A 27-year-old woman presented with generalized dystonia that began at age 15 years as dystonic posturing of the right hand when writing. She was diagnosed with cervical dystonia and botulinum toxin injections were tried, providing minimal pain relief and no improvement of the dystonia. The cervical dystonia was partially responsive to sensory tricks (Video, A). She was most bothered by her cervical dystonia, and disability was 6 on Part II of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS).

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