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[A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment].
Rinsho Shinkeigaku
January 2025
Department of Neurology, Gifu Prefectural General Medical Center.
A 49-year-old female presented with the primary complaint of hand tremors. Neurological examination on admission revealed signs of cognitive impairment, bulbar palsy, dystonia, cerebellar ataxia, and pyramidal tract disease. T-weighted brain MRI revealed hyperintense signals in the subcortical white matter, basal ganglia, and cerebellar dentate nucleus, with no atrophy of the brainstem or corpus callosum.
View Article and Find Full Text PDFThe role of intraoperative monitoring in target selection in deep brain stimulation: A single centre study.
Clin Park Relat Disord
January 2025
Department of Neurology, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Introduction: Intraoperative microelectrode recording (MER) and intraoperative test stimulation may provide vital information for optimal electrode placement and clinical outcome in movement disorders patients treated with deep brain stimulation (DBS). The aims of this retrospective study were to determine (i) how often the planned (imaging based) placements of electrodes were changed due to MER and intraoperative test stimulation in Parkinson's disease (PD), dystonia and essential tremor (ET) patients; (ii) whether the frequency of repositioning changed over time; (iii) whether patients' age or disease duration (in PD) influenced the frequency of repositioning.
Methods: Data on the planned and the final placement of 141 electrodes in 72 consecutive DBS treated patients (52 PD, 11 dystonia, 9 ET) was collected over the first 8 years of DBS implementation in a single center.
Development and Characterization of Trihexyphenidyl Orodispersible Minitablets: A Challenge to Fill the Therapeutic Gap in Neuropediatrics.
Pharmaceutics
December 2024
Departamento de Tecnología Farmacéutica, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Junin 956, Buenos Aires C1113AAD, Argentina.
Trihexyphenidyl (THP) has been widely used for over three decades as pediatric pharmacotherapy in patients affected by segmental and generalized dystonia. In order to achieve effective and safe pharmacotherapy for this population, new formulations are needed. The aim of this work is the development of trihexyphenidyl orodispersible minitablets (ODMTs) for pediatric use.
View Article and Find Full Text PDFA Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.
Int J Mol Sci
January 2025
Department of Neurology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.
View Article and Find Full Text PDFAdvanced 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.
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