We describe a 71-year-old woman who presented to the neurology department late in life with a jerky axial dystonia due to the DYT1 GAG deletion. She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia.
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http://dx.doi.org/10.1002/mds.10021 | DOI Listing |
Mov Disord Clin Pract
December 2024
Departments of Child Health, Neurology, and Cellular & Molecular Medicine, Program in Genetics, University of Arizona College of Medicine - Phoenix, Phoenix, Arizona, USA.
Nat Cell Biol
September 2024
Peter O'Donnell Jr. Brain Institute, UT Southwestern, Dallas, TX, USA.
As lifelong interphase cells, neurons face an array of unique challenges. A key challenge is regulating nuclear pore complex (NPC) biogenesis and localization, the mechanisms of which are largely unknown. Here we identify neuronal maturation as a period of strongly upregulated NPC biogenesis.
View Article and Find Full Text PDFbioRxiv
May 2024
Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
Neurobiol Dis
May 2024
Department of Neurology, University Hospital Würzburg, 97080, Germany. Electronic address:
DYT-TOR1A (DYT1) dystonia, characterized by reduced penetrance and suspected environmental triggers, is explored using a "second hit" DYT-TOR1A rat model. We aim to investigate the biological mechanisms driving the conversion into a dystonic phenotype, focusing on the striatum's role in dystonia pathophysiology. Sciatic nerve crush injury was induced in ∆ETorA rats, lacking spontaneous motor abnormalities, and wild-type (wt) rats.
View Article and Find Full Text PDFJ Neurosci
April 2024
Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center at Shreveport, Shreveport, Louisiana 71130-3932
DYT1 dystonia is a debilitating neurological movement disorder, and it represents the most frequent and severe form of hereditary primary dystonia. There is currently no cure for this disease due to its unclear pathogenesis. In our previous study utilizing patient-specific motor neurons (MNs), we identified distinct cellular deficits associated with the disease, including a deformed nucleus, disrupted neurodevelopment, and compromised nucleocytoplasmic transport (NCT) functions.
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