Combined Dystonia With Self-Mutilation in 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: A Case Report

Mov Disord Clin Pract. 2018 Nov 8;6(1):81-82. doi: 10.1002/mdc3.12698. eCollection 2019 Jan.

Anna Latorre^{1

2}, Paula Salgado^{1

3}, Mehri Salari^{1

4}, Aaron Jesuthasan⁵, Kailash P Bhatia¹

¹ Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom.
² Department of Human Neurosciences Sapienza University of Rome Rome Italy.
³ Department of Neurology Centro Hospitalar do Porto Porto Portugal.
⁴ Neurosurgery Research Center Shohada Tajrish Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences Tehran Iran.
⁵ Faculty of Medical Sciences Newcastle University Newcastle upon Tyne United Kingdom.

No abstract available

Keywords: PTPS deficiency; dopamine; neurotransmitters; self‐mutilation; serotonin.

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