Neurodegener Dis
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Published: December 2016
Background: Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). However, no neuropathological studies of genetically proven DYT6 cases have been previously reported.
Objective: We report the first detailed neuropathological investigation carried out on two DYT6 brains.
Methods: Genetic screening for THAP1 gene mutations using standard Sanger polymerase chain reaction sequencing identified 2 cases, 1 with a known pathogenic mutation and the other with a novel mutation. A detailed neuropathological assessment of the cases was performed.
Results: Both DYT6 cases showed no significant neurodegeneration and no specific disease-related pathology.
Conclusions: No neuropathological features that could be defined as hallmark features of DYT6 dystonia were identified. Our study supports the notion that in isolated dystonia, there is no significant neurodegeneration or morphological lesions that can be identified using routine methods.
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http://dx.doi.org/10.1159/000440863 | DOI Listing |
Eur J Neurol
October 2023
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Background And Purpose: Dystonia is a heterogeneous movement disorder, and it remains unclear whether neurodegeneration is involved. Neurofilament light chain (NfL) is a biosignature of neurodegeneration. We aimed to investigate whether plasma NfL levels were elevated and associated with disease severity in patients with dystonia.
View Article and Find Full Text PDFFront Neurol
April 2023
Department of Pediatrics, University Hospital Centre, School of Medicine, University of Zagreb, Zagreb, Croatia.
Introduction: Dystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been demonstrated as a safe and effective treatment for genetic dystonia in adolescents and adults. The results of DBS in children are limited to individual cases or case series, although it has been proven to be an effective procedure in carefully selected pediatric cohorts.
View Article and Find Full Text PDFJ Clin Neurol
March 2023
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Cereb Cortex
May 2023
Center for Neurosciences, The Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA.
Primary dystonia is thought to emerge through abnormal functional relationships between basal ganglia and cerebellar motor circuits. These interactions may differ across disease subtypes and provide a novel biomarker for diagnosis and treatment. Using a network mapping algorithm based on resting-state functional MRI (rs-fMRI), a method that is readily implemented on conventional MRI scanners, we identified similar disease topographies in hereditary dystonia associated with the DYT1 or DYT6 mutations and in sporadic patients lacking these mutations.
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