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X-linked dystonia Parkinsonism: crossing a new threshold

  • Neurology and Preclinical Neurological Studies - Review Article
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Abstract

X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on several fronts. Although much still remains to be elucidated regarding the disease cause, a robust amount of data has been produced in recent years compared to when it was first described in 1976. The debilitating nature of the overlapping dystonia and parkinsonism that characterizes this disorder has fueled much of the interest in unraveling its cause, clinical presentation, symptom progression, treatment and impact on the afflicted patients as well as their caregivers. Having made several significant advances in genetic studies, neuropathology, neurophysiology and clinical characterization, we are entering a new threshold in the study of this disorder, hopefully bringing us closer to potential treatments and possible cures. This review will focus on new information gathered regarding the motor and non-motor features of XDP, deep brain stimulation (DBS) as a potential treatment for XDP and the utility of the recently validated XDP-Movement Disorder Society of the Philippines (MDSP)-rating scale.

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Acknowledgments

The authors would like to thank Dr. Aloysius Domingo for information provided regarding patient demographic and clinical presentation and Ms Michelle Joya-Tanglao of CNS-Metropolitan Medical Center for data collation. We are indebted to our patients and their families for their important contribution to this present work. Likewise, we express our sincere appreciation to our esteemed colleagues who kindly referred their personal patients to us for further work-up.

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None.

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Author notes

  1. Arlene R. Ng, Roland Dominic G. Jamora, Raymond L. Rosales shared first authorship with equal contribution.

Authors and Affiliations

  1. Movement Disorders Service and Section of Neurology, Institute for Neurosciences, St. Luke’s Medical Center, Quezon City, Philippines

    Arlene R. Ng, Roland Dominic G. Jamora & Raymond L. Rosales

  2. Department of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines

    Roland Dominic G. Jamora

  3. Department of Neurology and Psychiatry, University of Santo Tomas Hospital, Manila, Philippines

    Raymond L. Rosales

  4. Center for Neurodiagnostic and Therapeutic Services, Metropolitan Medical Center, Manila, Philippines

    Raymond L. Rosales

  5. Institute for Neurosciences, St. Luke’s Medical Center Global City, Rizal Drive cor. 32nd Ave, Bonifacio Global City, 1634, Taguig City, Philippines

    Arlene R. Ng & Roland Dominic G. Jamora

Authors
  1. Arlene R. Ng
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  2. Roland Dominic G. Jamora
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  3. Raymond L. Rosales
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Correspondence to Arlene R. Ng.

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Ng, A.R., Jamora, R.D.G. & Rosales, R.L. X-linked dystonia Parkinsonism: crossing a new threshold. J Neural Transm 128, 567–573 (2021). https://doi.org/10.1007/s00702-021-02324-0

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  • DOI: https://doi.org/10.1007/s00702-021-02324-0

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