Journal
BRAIN SCIENCES
Volume 7, Issue 7, Pages -Publisher
MDPI
DOI: 10.3390/brainsci7070072
Keywords
X-linked dystonia-parkinsonism; striatum; striosome; neurodegeneration; genetics; pathophysiology
Categories
Funding
- Ministry of Education, Culture, Sports, Science, and Technology of Japan [24390223, 26461272, 26430054, 16K10788, 17K07096, 17K10899]
- Japan Agency for Medical Research and Development [16ek0109182h0001]
- Labor and Welfare of Japan from the Research Committee of CNS Degenerative Diseases
- Labor and Welfare of Japan (Policy Research for Intractable Diseases)
- Grants-in-Aid for Scientific Research [17K07096, 17K10899] Funding Source: KAKEN
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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 TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery. The major neuropathology of XDP is progressive neuronal loss in the neostriatum (i.e., the caudate nucleus and putamen). XDP may be used as a human disease model to elucidate the pathomechanisms by which striatal neurodegeneration leads to dystonia symptoms. In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP.
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