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Regardless of the genotype, Leigh syndrome requires comprehensive work-up for clinical or subclinical multisystem involvement.
Parkinsonism Relat Disord
January 2025
Neurology Dpt., Neurology & Neurophysiology Center, Vienna, Austria. Electronic address:
Effect of Botulinum toxin on non-motor symptoms in adult-onset idiopathic focal/segmental dystonia.
Neurol Sci
January 2025
Department of Neurology, PGIMER, Chandigarh, India.
Background: Non-motor symptoms, including depression, anxiety, sleep disturbances, pain and cognitive dysfunction, are a much more important predictor of quality of life than the severity of dystonia.
Objectives: To assess the effect of Botulinum toxin on non-motor symptoms and quality of life in patients with adult-onset idiopathic focal dystonia.
Methods: Patients aged > 18 years diagnosed with idiopathic focal dystonia were recruited in this longitudinal cohort study.
Modelling a pathological GSX2 variant that selectively alters DNA binding reveals hypomorphic mouse basal ganglia and hindbrain defects.
Dis Model Mech
January 2025
Divisions of Developmental Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Gsx2 is a homeodomain transcription factor critical for development of the ventral telencephalon and hindbrain of the mouse. Loss of Gsx2 function results in severe basal ganglia dysgenesis as well as defects in the nucleus tractus solitarius (nTS) of the hindbrain together with respiratory failure at birth. De Mori et al.
View Article and Find Full Text PDFMultidimensional structural analyses revealed a correlation between thalamic atrophy and white matter degeneration in idiopathic dystonia.
Brain Commun
January 2025
Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou 510080, China.
Although aberrant changes in grey and white matter are core features of idiopathic dystonia, few studies have explored the correlation between grey and white matter changes in this disease. This study aimed to investigate the coupling correlation between morphological and microstructural alterations in patients with idiopathic dystonia. Structural T1 imaging and diffusion tensor imaging were performed on a relatively large cohort of patients.
View Article and Find Full Text PDFDevelopment and application of a clinical core data set for deep brain stimulation in Parkinson's disease, dystonia or tremor: from data collection to data exchange and data sharing.
Neurol Res Pract
January 2025
Institute of Clinical Epidemiology and Biometry, Julius-Maximilians-Universität Würzburg (JMU), Haus D7, Josef-Schneider-Straße 2, 97080, Würzburg, Germany.
Background: Comprehensive clinical data regarding factors influencing the individual disease course of patients with movement disorders treated with deep brain stimulation might help to better understand disease progression and to develop individualized treatment approaches.
Methods: The clinical core data set was developed by a multidisciplinary working group within the German transregional collaborative research network ReTune. The development followed standardized methodology comprising review of available evidence, a consensus process and performance of the first phase of the study.
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