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Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1 mice.
Neurobiol Dis
February 2025
Department of Neurology, University Hospital of Wuerzburg, Germany. Electronic address:
DYT-THAP1 dystonia is a monogenetic form of dystonia, a movement disorder characterized by the involuntary co-contraction of agonistic and antagonistic muscles. The disease is caused by mutations in the THAP1 gene, although the precise mechanisms by which these mutations contribute to the pathophysiology of dystonia remain unclear. The incomplete penetrance of DYT-THAP1 dystonia, estimated at 40 to 60 %, suggests that an environmental trigger may be required for the manifestation of the disease in genetically predisposed individuals.
View Article and Find Full Text PDFDYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery.
Neurogenetics
April 2024
Institute of Neurogenetics, University of Lübeck, 23562, Lübeck, Germany.
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~ 50%. Since THAP1 encodes a transcription factor, modifiers influencing this variability likely operate at the gene expression level. This study aimed to assess the transferability of differentially expressed genes (DEGs) in neuronal cells related to pathogenic variants in the THAP1 gene, which were previously identified by transcriptome analyses.
View Article and Find Full Text PDFBackground: Dystonia is one of the most common movement disorders. To date, the genetic causes of dystonia in populations of European descent have been extensively studied. However, other populations, particularly those from the Middle East, have not been adequately studied.
View Article and Find Full Text PDFLarge-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
March 2024
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Background: Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD).
Objectives: To screen >2000 patients with dystonia or PD for rare variants in known dystonia-causing genes.
Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson's disease and monogenic dystonia: a multidisciplinary team perspective.
Front Neurosci
November 2023
Department of Neurology, Clinical Hospital Center Rijeka, Rijeka, Croatia.
In this perspective article, we highlight the possible applicability of genetic testing in Parkinson's disease and dystonia patients treated with deep brain stimulation (DBS). DBS, a neuromodulatory technique employing electrical stimulation, has historically targeted motor symptoms in advanced PD and dystonia, yet its precise mechanisms remain elusive. Genetic insights have emerged as potential determinants of DBS efficacy.
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