Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9536916PMC
http://dx.doi.org/10.14802/jmd.22037DOI Listing

Publication Analysis

Top Keywords

blacksmith's dystonia
4
dystonia task-specific
4
task-specific dystonia
4
blacksmith's
1
task-specific
1
dystonia
1

Similar Publications

Clinical Phenotype, Predictors and Early Biomarkers of Dyskinetic Cerebral Palsy Prognosis.

Pediatr Neurol

August 2025

Department of Neurology & Neurosurgery, McGill University, Montréal, Québec, Canada; Department of Pediatrics, McGill University, Montréal, Québec, Canada.

Background: Dyskinetic cerebral palsy (DCP) is a severe subtype of cerebral palsy in which children often present substantial functional impairment and multiple comorbidities. Our knowledge of the clinical picture of DCP is limited and our understanding of which markers best predict later impairment is scarce. This study aims to describe the presentation of DCP and examine the value of gestational age (GA) and magnetic resonance imaging (MRI) findings as early markers of eventual DCP prognosis.

View Article and Find Full Text PDF

Abnormal Connectivity of the Head Neural Integrator in Cervical Dystonia.

Mov Disord

September 2025

Movement Investigation and Therapeutics Team, Sorbonne Université, INSERM U1127, CNRS UMR 7225, Paris Brain Institute, Paris, France.

Background: Cervical dystonia is characterized by abnormal neck and head movements, possibly related to a dysfunction of the interstitial nucleus of Cajal (INC) and the head neural integrator, a system responsible for the control of head and eye movements. However, neuroanatomical evidence of alterations in the head neural integrator in cervical dystonia is sparse.

Objectives: We investigated structural and functional integrity of the INC and its connections in cervical dystonia.

View Article and Find Full Text PDF

Heterozygous loss-of-function mutations are one established cause of isolated dystonia and hyposmia. Homozygous mutations have been reported in siblings with generalized dystonia and intellectual disability. encodes major [NM_001369387.

View Article and Find Full Text PDF

Therapeutic effects of striatal dopaminergic modulation on idiopathic dystonia and OCD in humans: insights from the striosome hypothesis.

Front Hum Neurosci

August 2025

Center for Drug Discovery and Development Sciences, Research Organization of Science and Technology, Ritsumeikan University, Kyoto, Japan.

Emerging evidence suggests that striatal striosomes play a key role in the dopaminergic regulation of motor and mental action selection processes, with impairments leading to repetitive stereotyped movements (dystonias), thoughts (obsessions), and behaviors (compulsions). To explore this hypothesis therapeutically, we investigated how idiopathic dystonia and obsessive-compulsive disorder (OCD) respond to a novel dopaminergic treatment using low-dose L-DOPA combined with chlorpromazine (CPZ), which can primarily enhance striosomal D dopamine receptor (DR) signaling in humans. The therapeutic effects of L-DOPA/CPZ were assessed over 1 year in 26 idiopathic dystonia patients (mean age, 55.

View Article and Find Full Text PDF

Preliminary observations of glucose metabolism dysregulation in pediatric Huntington's disease.

Front Neurol

August 2025

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Background: Pediatric Huntington's disease (PHD), a rare and severe form of juvenile-onset Huntington's disease (JOHD), is associated with highly expanded CAG repeats in the gene and a rapidly progressive neurodegenerative course. Recent studies have suggested that glucose metabolism may be impaired in PHD due to reduced expression of glucose transporters in the brain, resembling aspects of GLUT1 Deficiency Syndrome (GLUT1DS).

Methods: We investigated glucose metabolism in two pediatric patients with genetically confirmed PHD (CAG repeats: 76 and 79) referred to our tertiary care center.

View Article and Find Full Text PDF