Spontaneous dyskinesia in first-episode psychosis was described previously with varying incidence rates ranging from zero to 53%. Dyskinesia was also found to be more common in siblings of patients with both schizophrenia and dyskinesia. This condition was linked with structural brain abnormalities and posited to be another subtype of schizophrenia with striatal pathology. Whether there are ethnic variations in the rates of spontaneous dyskinesia is unknown because of the paucity of studies in this area. This study aims to establish the rates of spontaneous dyskinesia in a Southeast Asian population of drug-naive patients experiencing their first psychotic episode and to examine the clinical correlates. A total of 908 patients were examined, of which, 76.1% were Chinese; 15.4%, Malays; 6.2%, Indians; and 2.3%, from other minor ethnic groups. Schizophrenia was diagnosed in 48.9% of the population. There were 3 patients of Chinese descent who had "minimal" or "mild" dyskinetic movements when rated with the Abnormal Involuntary Movement Scale, but none fulfilled the Schooler and Kane criteria for spontaneous dyskinesia. Their dyskinetic movements resolved when reassessed 3 and 6 months after treatment with antipsychotic medications. Of the 3 patients, 2 were treatment resistant and subsequently treated with clozapine. This is the largest study to date examining the prevalence of spontaneous dyskinesia. We hypothesize that there is an ethnically based difference in the rates of spontaneous dyskinesia that could reflect underlying genetic variations. Patients with dyskinetic movements at baseline could have a more treatment refractory course of illness.
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Gene
January 2025
Department of Neurology Children's Hospital of Chongqing Medical University, China; National Clinical Research Center for Child Health and Disorders, China; Ministry of Education Key Laboratory of Child Development and Disorders, China; Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, China. Electronic address:
Mutations in ADGRV1 can cause seizures, but the mechanism remains unclear. The zebrafish model can be used to assess the functions of human ADGRV1 and its variant alleles during embryonic development. In this study, we summarized the phenotypic and genotypic characteristics of four children with ADGRV1 variation and based on this, we validated the ADGRV1 loss phenotype in an adgrv1-knockout zebrafish model.
View Article and Find Full Text PDFMol Med
January 2025
Department of Neurology, Shengjing Hospital of China Medical University, Shenyang, China.
Background: Mitochondrial dysfunction and neuronal damage are major sign of cytopathology in Huntington's disease (HD), a neurodegenerative disease. Ubiquitin specific peptidase 11 (USP11) is a deubiquitinating enzyme involved in various physiological processes through regulating protein degradation. However, its specific role in HD is unclear.
View Article and Find Full Text PDFCerebellum
December 2024
NeuroMetrology Lab, Nuffield Department of Clinical Neurosciences, Clinical Neurology, Medical Sciences Division, University of Oxford, Oxford, OX3 9DU, UK.
Whereas several studies have reported on quantitative oculomotor and vestibular measurements in spinocerebellar ataxia type 6 (SCA6), selecting the most suitable paradigms remains challenging. We aimed to address this knowledge gap through a systematic literature review and providing disease-specific recommendations for a tailored set of eye-movement recordings in SCA6. A literature search (MEDLINE, Embase) was performed focusing on studies reporting on quantitative oculomotor and/or vestibular measurements in SCA6-patients.
View Article and Find Full Text PDFNeurobiol Dis
January 2025
IDDRC, Jane and Terry Semel Institute for Neuroscience & Human Behavior, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA, USA.
There is a growing consensus that brain development in Huntington's disease (HD) is abnormal, leading to the idea that HD is not only a neurodegenerative but also a neurodevelopmental disorder. Indeed, structural and functional abnormalities have been observed during brain development in both humans and animal models of HD. However, a concurrent study of cortical and striatal development in a genetic model of HD is still lacking.
View Article and Find Full Text PDFBrain
November 2024
Department of Psychology, The University of Arizona, Tucson, AZ 85721, USA.
Gamma band and single-unit neural activity in primary motor cortex (M1) are involved in the control of movement. This activity is disrupted in Parkinson's disease (PD) and levodopa-induced dyskinesia (LID), a debilitating consequence of dopamine replacement therapy for PD. Physiological features of LID include pathological narrowband gamma oscillations, finely tuned gamma (FTG), and altered M1 firing activity.
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