Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.neurol.2021.01.018 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.
Int J Mol Sci
January 2025
Department of Neurology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.
View Article and Find Full Text PDFAssessment of Peripheral Neuropathy Using Current Perception Threshold Measurement in Patients with Spinocerebellar Ataxia Type 3.
Cerebellum
January 2025
Department of Neurology, Fujian Key Laboratory of Molecular Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Key Laboratory of Brain Aging and Neurodegenerative Diseases of Fujian Medical University, 20 Chazhong Road, Fuzhou, 350005, China.
Peripheral neuropathy (PN) identified as a significant contributor to disability in Spinocerebellar ataxia type 3 (SCA3) patients. This study seeks to assess the utility of current perception threshold (CPT) measurements in evaluating PN in individuals with SCA3 and aims to identify factors influencing CPT values in SCA3 and ascertain whether these values correlate with the severity of ataxia. Ninety-four patients diagnosed with SCA3 and 44 healthy controls were recruited for this investigation.
View Article and Find Full Text PDFIdentifying time patterns in Huntington's disease trajectories using dynamic time warping-based clustering on multi-modal data.
Sci Rep
January 2025
Cognition and Brain Plasticity Unit, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain.
One of the principal goals of Precision Medicine is to stratify patients by accounting for individual variability. However, extracting meaningful information from Real-World Data, such as Electronic Health Records, still remains challenging due to methodological and computational issues. A Dynamic Time Warping-based unsupervised-clustering methodology is presented in this paper for the clustering of patient trajectories of multi-modal health data on the basis of shared temporal characteristics.
View Article and Find Full Text PDFWorsening spasticity due to catheter breakage during intrathecal baclofen therapy: a case report.
J Med Case Rep
January 2025
Department of Orthopedic Surgery, Graduate School of Medicine, Kanazawa University, 13-1 Takara-machi, Kanazawa City, Ishikawa, 920-8641, Japan.
Background: Intrathecal baclofen therapy can substantially improve symptoms in patients with severe spasticity owing to traumatic spinal cord injury, multiple sclerosis, cerebral paresis, or tethered cord syndrome. Problems associated with intrathecal catheters include migration, laceration, occlusion, or disconnection. Several case reports have described the management of catheter fragments.
View Article and Find Full Text PDFFunctional neurological disorder treated with psychoeducation: A case report.
Medicine (Baltimore)
January 2025
Psychiatry Section, Department of Medicine, King Abdulaziz Medical City, Ministry of the National Guard Health Affairs, King Abdullah International Medical Research Center, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Rationale: Psychogenic tremor (PT) is the most common subtype of psychogenic movement disorder, characterized by involuntary movement, and is usually related to occupational injuries or accidents. Psychogenic movement disorder falls under the category of functional neurological disorders, which are diagnosed based on the criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders.
Patient Concerns: A 25-year-old Saudi male with a history of recurrent superior ventricular tachycardia presented to the emergency department with tremors affecting all his extremities for 8 days.
Want 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!