Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterised by brief and frequent attacks of abnormal involuntary movements induced by sudden movement. This disorder has not been reported previously in Sri Lanka. We studied six patients with respect to clinical presentation, aetiology, family history and response to treatment, and describe the Sri Lankan patterns of this illness. All the patients were males and the age at onset was from 11 to 22 years. The involuntary movements in all were dystonic and affected one or both sides, involving the face in the majority. All had difficulty in speaking during the attacks. One patient had an occasional attack during exercise. In all, the illness was sporadic, none had a family history of a similar illness and in none was it due to a secondary cause. The attacks usually lasted 10-60 seconds, and occurred up to 20 times a day. All patients responded well to anticonvulsants. PKD in Sri Lanka has a pattern similar to that described worldwide.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.4038/cmj.v51i1.1377 | DOI Listing |
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 PDFJ Clin Neurol
January 2025
Department of Neurology, Chungbuk National University Hospital, Cheongju, Korea.
Tremor Other Hyperkinet Mov (N Y)
December 2024
Veracity Neuroscience LLC, Memphis, Tennessee, USA.
Background: mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments.
View Article and Find Full Text PDFMov Disord
December 2024
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, Istanbul, Turkey.
Background: ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances.
Objectives: This study describes the first case of ATX-FGF/SCA27A linked to a biallelic frameshift variant in the FGF14 gene.
Methods: Whole-exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing.
Int J Neural Syst
January 2025
School of Health Science and Engineering, University of Shanghai for Science and Technology, Shanghai 200093, P. R. China.
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder marked by transient involuntary movements triggered by sudden actions. Current diagnostic approaches, including genetic screening, face challenges in identifying secondary cases due to symptom overlap with other disorders. This study introduces a novel PKD recognition method utilizing a resting-state electroencephalogram (EEG) functional connectivity matrix and a deep learning architecture (AT-1CBL).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!