The classification, clinical and electrophysiological characteristics, treatment outcome and pathogenesis of paroxysmal dyskinesia were summarized and analyzed. Paroxysmal dyskinesia was classified into three types. Different types had different incentives in clinical practice. Patients were mostly male adolescents, and the attacks, which were in various forms, manifested as dysmyotonia of choreoathetosis, body torsion and facemaking; no disturbance of consciousness during attacks. Electroencephalogram and other examinations showed no specific abnormalities during both the attacks and interictal period. Paroxysmal dyskinesia was an independent disease and different from epilepsy.
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Acta Paediatr
January 2025
Department of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Aim: Sydenham chorea (SC) is a globally significant, post-streptococcal, childhood neuropsychiatric condition that is rare in western Europe. This retrospective single-centre study focused on children with neuropsychiatric features of SC.
Methods: Participants were recruited from neuropsychiatry referrals to a regional paediatric neurology department in Glasgow, Scotland, from 2009 to 2012.
Transl Neurodegener
January 2025
State Key Laboratory of Bioactive Molecules and Druggability Assessment, Guangdong Key Laboratory of Non-Human Primate Research, Key Laboratory of CNS Regeneration (Ministry of Education), Guangdong-Hongkong-Macau Institute of CNS Regeneration, Jinan University, Guangzhou, 510632, China.
Amyotrophic lateral sclerosis (ALS) and Huntington's disease (HD) are diverse in clinical presentation and are caused by complex and multiple factors, including genetic mutations and environmental factors. Numerous therapeutic approaches have been developed based on the genetic causes and potential mechanisms of ALS and HD. Currently, available treatments for various neurodegenerative diseases can alleviate symptoms but do not provide a definitive cure.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA
An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made.
View Article and Find Full Text PDFGene
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 PDFCNS Drugs
January 2025
Innovative Medicines and Global Clinical Development, Teva Branded Pharmaceutical Products R&D, Inc., West Chester, PA, USA.
Background: Huntington disease (HD) is a progressive neurodegenerative disease that causes psychiatric and neurological symptoms, including involuntary and irregular muscle movements (chorea). Chorea can disrupt activities of daily living, pose safety issues, and may lead to social withdrawal. The vesicular monoamine transporter 2 inhibitors tetrabenazine, deutetrabenazine, and valbenazine are approved treatments that can reduce chorea.
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