Objective: Dystonia is a disabling motor disorder often without effective therapies. To better understand the genesis of dystonia after childhood stroke, we analyzed electroencephalographic (EEG) recordings in this population.
Methods: Resting spectral power of EEG signals over bilateral sensorimotor cortices (Powrest), resting inter-hemispheric sensorimotor coherence (Cohrest), and task-related changes in power (TRPow) and coherence (TRCoh) during wrist extension were analyzed in individuals with dystonia (age 20±3years) and healthy volunteers (age 17±5years).
Results: Ipsilesional TRPow decrease was significantly lower in patients than controls during the more affected wrist task. Force deficits of the affected wrist correlated with reduced alpha TRPow decrease on the ipsilesional and not the contralesional hemisphere. Cohrest was significantly lower in patients than controls, and correlated with more severe dystonia and poorer hand function. Powrest and TRCoh were similar between groups.
Conclusions: The association between weakness and cortical activation during wrist extension highlights the importance of ipsilesional sensorimotor activation on function. Reduction of Cohrest in patients reflects a loss of inter-hemispheric connectivity that may result from structural changes and neuroplasticity, potentially contributing to the development of dystonia.
Significance: Cortical and motor dysfunction are correlated in patients with childhood stroke and may in part explain the genesis of dystonia.
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http://dx.doi.org/10.1016/j.clinph.2014.11.002 | DOI Listing |
JAMA Netw Open
December 2024
Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, Massachusetts.
Importance: Childhood adverse experiences have been linked with long-term risk of cardiovascular disease (CVD), yet the transgenerational associations between interparental behaviors and CVD remain poorly understood.
Objectives: To explore the association between exposure to childhood interparental physical violence and the subsequent risk of CVD and to examine whether the association is modified by adult depressive symptoms.
Design, Setting, And Participants: This population-based cohort study included data from the China Health and Retirement Longitudinal Study (CHARLS), an ongoing study recruiting individuals aged 45 years or older, dated between June 1, 2011, and December 31, 2020, with a follow-up duration of 9 years.
Int J Cancer
December 2024
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Cerebrovascular events (CVEs) are serious late adverse events among childhood cancer survivors. We estimated the incidence and risk factors of symptomatic CVEs and described the clinical characteristics among childhood cancer survivors after upper body radiotherapy. The Dutch Childhood Cancer Survivor Study LATER cohort study includes 5-year childhood cancer survivors diagnosed
Genet Med
December 2024
Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.
Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.
Am J Physiol Heart Circ Physiol
December 2024
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Farber disease (FD) is an ultra-rare, autosomal-recessive, lysosomal storage disorder attributed to ASAH1 gene mutations. FD is characterized by acid ceramidase (ACDase) deficiency and the accumulation of ceramide in various tissues. Classical FD patients typically manifest symptoms including lipogranulomatosis, respiratory complications, and neurological deficits, often leading to mortality during infancy.
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