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Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Mov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
Advanced Magnetic Resonance Imaging for Early Diagnosis and Monitoring of Movement Disorders.
Brain Sci
January 2025
Unidad de Trastornos del Movimiento y Sueño, Hospital General Dr. Manuel Gea González, Calzada de Tlalpan 4800, Mexico City 14080, Mexico.
Advanced magnetic resonance imaging (MRI) techniques are transforming the study of movement disorders by providing valuable insights into disease mechanisms. This narrative review presents a comprehensive overview of their applications in this field, offering an updated perspective on their potential for early diagnosis, disease monitoring, and therapeutic evaluation. Emerging MRI modalities such as neuromelanin-sensitive imaging, diffusion-weighted imaging, magnetization transfer imaging, and relaxometry provide sensitive biomarkers that can detect early microstructural degeneration, iron deposition, and connectivity disruptions in key regions like the substantia nigra.
View Article and Find Full Text PDFFunctional movement disorders in dopa-responsive dystonia.
Parkinsonism Relat Disord
January 2025
Institute of Systems Motor Science, University Medical Center Schleswig-Holstein, University of Lübeck, Lübeck, Germany; Center for Brain, Behavior, and Metabolism, University of Lübeck, Lübeck, Germany; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, United States; Center of Rare Diseases, University Medical Center Schleswig-Holstein, Lübeck, Germany. Electronic address:
Background: Functional neurological movement disorders are common and disabling. Little is known about their coexistence with other non-functional movement disorders and their impact on the general disease burden.
Objectives: Investigating frequency and characteristics of functional movement disorders in GCH1-positive dopa-responsive dystonia patients.
Vibro-tactile stimulation of the neck induces head righting in people with cervical dystonia.
Parkinsonism Relat Disord
January 2025
Human Sensorimotor Control Laboratory, School of Kinesiology, University of Minnesota, USA; Center for Clinical Movement Science, University of Minnesota, USA.
Introduction: Cervical dystonia (CD) is characterized by involuntary neck muscle spasms that lead to abnormal head movements or postures. It is associated with somatosensory (tactile and proprioceptive) dysfunction. Here we tested whether vibro-tactile stimulation (VTS) of the cervical muscles constitutes a non-invasive form of neuromodulation of the somatosensory system that can provide temporary symptom relief for people with CD.
View Article and Find Full Text PDFBasal ganglia components have distinct computational roles in decision-making dynamics under conflict and uncertainty.
PLoS Biol
January 2025
Carney Institute for Brain Science, Department of Cognitive & Psychological Sciences, Brown University, Providence, Rhode Island, United States of America.
The basal ganglia (BG) play a key role in decision-making, preventing impulsive actions in some contexts while facilitating fast adaptations in others. The specific contributions of different BG structures to this nuanced behavior remain unclear, particularly under varying situations of noisy and conflicting information that necessitate ongoing adjustments in the balance between speed and accuracy. Theoretical accounts suggest that dynamic regulation of the amount of evidence required to commit to a decision (a dynamic "decision boundary") may be necessary to meet these competing demands.
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