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Kawarai T, Morigaki R, Kaji R, et al. Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag). Brain Sci. 2017;7(7)doi: 10.3390/brainsci7070072.
Kawarai, T., Morigaki, R., Kaji, R., & Goto, S. (2017). Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag). Brain sciences, 7(7), . https://doi.org/10.3390/brainsci7070072
Kawarai, Toshitaka, et al. "Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag)." Brain sciences vol. 7,7 (2017). doi: https://doi.org/10.3390/brainsci7070072
Kawarai T, Morigaki R, Kaji R, Goto S. Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag). Brain Sci. 2017 Jun 26;7(7). doi: 10.3390/brainsci7070072. PMID: 28672841; PMCID: PMC5532585.
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Brain Sci. 2017 Jun 26;7(7). doi: 10.3390/brainsci7070072.

Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag).

Brain sciences

Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji, Satoshi Goto

Affiliations

  1. Department of Clinical Neuroscience, Institute of Biomedical Sciences, Graduate School of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan. [email protected].
  2. Parkinson's Disease and Dystonia Research Center, Tokushima University Hospital, Tokushima 770-8503, Japan. [email protected].
  3. Department of Neurodegenerative Disorders Research, Institute of Biomedical Sciences, Graduate School of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan. [email protected].
  4. Department of Neurosurgery, Institute of Biomedical Sciences, Graduate School of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan. [email protected].
  5. Department of Clinical Neuroscience, Institute of Biomedical Sciences, Graduate School of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan. [email protected].
  6. Parkinson's Disease and Dystonia Research Center, Tokushima University Hospital, Tokushima 770-8503, Japan. [email protected].
  7. Parkinson's Disease and Dystonia Research Center, Tokushima University Hospital, Tokushima 770-8503, Japan. [email protected].
  8. Department of Neurodegenerative Disorders Research, Institute of Biomedical Sciences, Graduate School of Medical Sciences, Tokushima University, Tokushima 770-8503, Japan. [email protected].

PMID: 28672841 PMCID: PMC5532585 DOI: 10.3390/brainsci7070072

Abstract

X-linked dystonia-parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or "Lubag" disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the

Keywords: X-linked dystonia–parkinsonism; genetics; neurodegeneration; pathophysiology; striatum; striosome

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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