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A 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 PDFA multi-modal neuroimaging data release for Meige Syndrome and Facial Paralysis Research.
Sci Data
January 2025
Department of Radiology, China-Japan Friendship Hospital, Beijing, China.
The sharing of multimodal magnetic resonance imaging (MRI) data is of utmost importance in the field, as it enables a deeper understanding of facial nerve-related pathologies. However, there is a significant lack of multi-modal neuroimaging databases specifically focused on these conditions, which hampers our comprehensive knowledge of the neural foundations of facial paralysis. To address this critical gap and propel advancements in this area, we have released the Multimodal Neuroimaging Dataset of Meige Syndrome, Facial Paralysis, and Healthy Controls (MND-MFHC).
View Article and Find Full Text PDFPathogenic Variant in the 5'-Untranslated Region of and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia.
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
Disgust and Other Negative Emotions in the Relationship between Mental Contamination and Post-Traumatic Stress Disorder: A Systematic Review.
Actas Esp Psiquiatr
January 2025
Centro Universitário Investigação em Psicologia (CUIP) Universidade do Algarve, 8005-139 Faro, Portugal; Departamento de Psicologia e Ciências da Educação, Faculdade de Ciências Humanas e Sociais, Universidade do Algarve, 8005-139 Faro, Portugal.
Background: Mental contamination (MC) refers to feelings of internal filthiness associated with contamination obsessions. Ego-dystonic memories and thoughts can trigger MC, although it can also be activated by trauma, which is associated with the onset of post-traumatic stress disorder (PTSD). Research shows that MC, negative emotions and PTSD can occur simultaneously.
View Article and Find Full Text PDFContemporary Perspectives in Critical Care of Neuroleptic Malignant Syndrome.
Neurocrit Care
January 2025
Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
Background: Neuroleptic malignant syndrome (NMS) is a psychiatric-neurologic emergency that may require intensive care management. There is a paucity of information about NMS as a critical illness. We reviewed the Mayo Clinic experience.
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