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- W3099667781 endingPage "105186" @default.
- W3099667781 startingPage "105186" @default.
- W3099667781 abstract "X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. Clinical symptoms include the initial appearance of dystonia, followed by parkinsonian traits after 10-15 years. The basal ganglia, particularly the striatum, is an area of focus in XDP neuropathology research, as the striatum shows marked atrophy that correlates with disease progression. Thus, XDP shares features of Parkinson's disease symptomatology, in addition to the genetic predisposition and presence of striatal atrophy resembling Huntington's disease. However, further research is required to reveal the detailed pathology and indicators of disease in the XDP brain. First, there are limited neuropathological studies that have investigated neuronal changes and neuroinflammation in the XDP brain. However, multiple neuroimaging studies on XDP patients provide clues to other affected brain regions. Furthermore, molecular pathological studies have elucidated that the main genetic cause of XDP is in the TAF-1 gene, but how this mutation relates to XDP neuropathology still remains to be fully investigated. Hence, we aim to provide an extensive overview of the current literature describing neuropathological changes within the XDP brain, and discuss future research avenues, which will provide a better understanding of XDP neuropathogenesis." @default.
- W3099667781 created "2020-11-23" @default.
- W3099667781 creator A5032388309 @default.
- W3099667781 creator A5053097694 @default.
- W3099667781 creator A5065666340 @default.
- W3099667781 creator A5085666861 @default.
- W3099667781 date "2021-01-01" @default.
- W3099667781 modified "2023-10-14" @default.
- W3099667781 title "Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism" @default.
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