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Neuropathology studies of X-linked dystonia parkinsonism

Susan Harris, Betty Thomas

Dystonia caused by the X-chromosome Parkinsonism (XDP) is a neurodegenerative ailment that is indigenous to Panay Island in the Philippines. It is a recessive, genetically inherited disease. Dystonia is the first clinical sign, followed by parkinsonian features around 10–15 years. The striatum, in particular, is a focus of XDP neuropathology study because the striatum shows substantial atrophy that correlates with illness development. Thus, XDP shares symptomatology with Parkinson's disease, as well as a genetic propensity and striatal atrophy similar to Huntington's disease. However, more research is needed to learn more about the pathology and disease signs in the XDP brain. For starters, neuronal alterations and neuroinflammation in the XDP brain have only been studied in a few neuropathological studies. Multiple neuroimaging investigations on XDP patients, on the other hand, point to different brain regions that are damaged. Furthermore, molecular pathological studies have revealed that the main genetic cause of XDP is a mutation in the TAF-1 gene, but the exact relationship between this mutation and XDP neuropathology has yet to be determined. As a result, we intend to present a comprehensive review of the current literature showing neuropathological changes in the XDP brain, as well as explore future research directions that will help us better understand XDP neuropathogenesis.

Isenção de responsabilidade: Este resumo foi traduzido usando ferramentas de inteligência artificial e ainda não foi revisado ou verificado.
 
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