We looked for an impaired interaction in the primary motor cortex between intracortical inhibitory circuits and circuits fed by somatosensory inputs in patients with writer's cramp. Short-interval intracortical inhibition (sICI) to wrist extensor carpi radialis muscle (ECR) was conditioned by stimulation of antagonist muscle afferents and sICI to first dorsal interosseus (FDI) muscle by homotopic cutaneous afferents stimulation. sICI was assessed at rest and during a tonic contraction of the target muscle. Eighteen patients with writer's cramp (10 having a wrist dystonic posture in flexion during writing and 8 in extension) were compared to 14 control subjects. Peripheral inputs decreased sICI in control subjects. This decrease was lost in patients in both FDI and ECR, regardless of the wrist dystonic posture. By contrast, contraction-induced depression of sICI appeared dependant on the dystonic status of the muscle: depression of sICI to ECR was abolished in patients with wrist dystonic posture in flexion, but not in patients with dystonic posture in extension, sICI even giving way to motor-evoked potential facilitation. Loss of interaction between interneurons mediating sICI and peripheral inputs probably belongs to the initial abnormalities underlying dystonia. Lack of peripherally induced sICI modulation may oppose wrist and/or hand muscles synergies.
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http://dx.doi.org/10.1002/mds.20821 | DOI Listing |
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of General Medicine, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Background: Variants in the gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.
Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.
Introduction Pediatric hemifacial spasm (HFS) is rare, presenting early in infancy, and often fraught with subsequent psychomotor and intellectual deficits. Fourth ventricular hamartoma (FVH) is a rare cause of HFS with only 5 cases reported in literature. While Gamma-knife radiosurgery (GKRS) has been used to treat hypothalamic hamartomas, this is the first case of FVH treated with primary GKRS.
View Article and Find Full Text PDFNeurology
January 2025
Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA.
Tremor is defined as an oscillatory and rhythmical movement. By contrast, dystonia is defined by sustained or intermittent abnormal postures, repetitive movements, or both. Tremor and dystonia often coexist in the same individual.
View Article and Find Full Text PDFChilds Nerv Syst
December 2024
Department of Neurosurgery, Alder Hey Children's Hospital, Liverpool, L14 5AB, UK.
J Neural Transm (Vienna)
November 2024
Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy.
Essential tremor (ET) is characterized by upper limbs action tremor, sometimes extending to other body parts. However, ET can present with additional neurological features known as "soft signs." These signs of uncertain clinical significance are not sufficient to suggest an alternative neurological diagnosis, and include, among others, questionable dystonia and subtle voluntary movement alterations, i.
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