Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.parkreldis.2010.07.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Biallelic variants in the cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.
Mol Genet Metab Rep
December 2024
Eye Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Background: Variants in have been reported to be associated with Leigh syndrome. However, further expansion of the -phenotype and variants spectrum of -related Leigh syndrome are still required.
Methods: Two patients diagnosed with Leigh syndrome were recruited, and whole-exome sequencing was performed to identify the genetic variants responsible for the abnormal gait, dystonia, and bilateral basal ganglia lesions, followed by validation using Sanger sequencing.
Intermuscular coherence during co-contraction eliciting tasks as a biomarker for dystonia and GPi-DBS efficacy.
Clin Neurophysiol
December 2024
Department of Neurology, University Medical Center Groningen (UMCG), University of Groningen, Hanzeplein 1, 9700 RB Groningen, the Netherlands; Expertise Center Movement Disorders Groningen, University Medical Center Groningen (UMCG), the Netherlands. Electronic address:
Article Synopsis
- Clinical rating scales often miss the full range of dystonic symptoms, prompting the need for a reliable biomarker to assess the effectiveness of deep brain stimulation (GPi-DBS) for treating dystonia.
- In a study of 12 patients undergoing GPi-DBS, researchers found that those with arm dystonia had higher intermuscular coherence in the 4-12 Hz range before surgery, which significantly decreased after the procedure.
- Despite the observed changes in coherence, the study found no strong links between coherence levels and clinical rating scale scores, suggesting that more research is needed to determine the biomarker's clinical utility.
Artificial Intelligence in the Diagnosis and Quantitative Phenotyping of Hyperkinetic Movement Disorders: A Systematic Review.
J Clin Med
November 2024
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
: Hyperkinetic movement disorders involve excessive, involuntary movements such as ataxia, chorea, dystonia, myoclonus, tics, and tremor. Recent advances in artificial intelligence (AI) allow investigators to integrate multimodal instrumented movement measurements and imaging techniques and to analyze these data together at scale. In this systematic review, we aim to characterize AI's performance in diagnosing and quantitatively phenotyping these disorders.
View Article and Find Full Text PDFHarnessing machine learning in diagnosing complex hoarseness cases.
Am J Otolaryngol
December 2024
Carmel Medical Center, Department of Otolaryngology - Head and Neck Surgery, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Purpose: Traditional vocal fold pathology recognition typically requires expertise of laryngologists and advanced instruments, primarily through direct visualization. This study aims to augment this conventional paradigm by introducing a parallel diagnostic procedure. Our objective is to harness a machine-learning algorithm designed to discern intricate patterns within patients' voice recordings to distinguish not only between healthy and hoarse voices but also among various specific disorders.
View Article and Find Full Text PDFLower-limb muscle synergies in musician's dystonia: a case study of a drummer.
Front Neurol
November 2024
Faculty of Environment and Information Studies, Keio University, Fujisawa, Japan.
Musician's dystonia (MD) is a movement disorder characterized by involuntary muscle contractions specifically triggered by playing an instrument. This condition often leads to a loss of fine motor control, threatening the careers of affected musicians. While MD is commonly associated with the hands, it can also affect the lower limbs, particularly in drummers.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!