Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype

Clin Neurol Neurosurg. 2020 Dec:199:106258. doi: 10.1016/j.clineuro.2020.106258. Epub 2020 Sep 30.

¹ Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Gerald Choa Neuroscience Centre, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region. Electronic address: [email protected].
² Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.
³ Department of Medicine & Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative Region.
⁴ Department of Paediatrics & Adolescent Medicine, Princess Margaret Hospital, Hong Kong Special Administrative Region.
⁵ Margaret K.L. Cheung Research Centre for Management of Parkinsonism, Gerald Choa Neuroscience Centre, Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong Special Administrative Region.
⁶ Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong Special Administrative Region.

No abstract available

Keywords: Dystonia; Movement disorders; Spasticity; TPK1; Tremor.

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