Palatal tremor (PT), also known as palatal myoclonus, is defined by short rhythmic contractions of the palatal musculature. Functional MR imaging (fMRI) revealed prominent bilateral neuronal activation in the putamen associated with essential palatal tremor (EPT) in a 41-year-old man. This implies a central role of the putamen in EPT, most likely as a consequence of diminished inhibition in an afferent pathway. Because fMRI primarily detects activations, dysfunctional areas remain obscure. The present functional study complements previous pathologic studies, which associated PT with lesions to dentate nucleus, red nucleus, and the inferior olive (Guillain-Mollaret triangle).
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Int J Mol Sci
January 2025
Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.
View Article and Find Full Text PDFMedicina (Kaunas)
January 2025
Neurology Department, Cooper University Hospital, Camden, NJ 08103, USA.
: Myoclonus is already associated with a wide variety of drugs and systemic conditions. As new components are discovered, more drugs are suspected of causing this disabling abnormal involuntary movement. This systematic review aims to assess the medications associated with drug-induced myoclonus (DIM).
View Article and Find Full Text PDFFront Med (Lausanne)
January 2025
Department of Surgery, Institute of Medical Sciences, Medical College of Rzeszów University, Rzeszów, Poland.
Opsoclonus-myoclonus syndrome (OMS) is a rare neurological inflammatory disease of paraneoplastic, parainfectious or idiopathic origin. It is manifested by the occurrence of opsoclonus, myoclonus, ataxia, as well as behavioral and sleep disorders. The incidence is estimated at 1/5,000,000 people.
View Article and Find Full Text PDFJ Hum Genet
January 2025
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.
View Article and Find Full Text PDFVet Anaesth Analg
December 2024
Department of Veterinary Clinical Medicine, College of Veterinary Medicine, University of Illinois, Urbana, IL, USA; Department of Animal Sciences, University of Illinois, Urbana, IL, USA; Division of Nutritional Sciences, University of Illinois, Urbana, IL, USA.
Objective: To evaluate dose requirements of etomidate for endotracheal intubation, with or without midazolam co-induction, and to describe induction quality and associated cardiorespiratory variables in healthy cats.
Study Design: Randomized prospective experimental study.
Animals: A group of 24 adult neutered cats (17 females, seven males).
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