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http://dx.doi.org/10.14802/jmd.20119 | DOI Listing |
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 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 PDFActa Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
Parkinsonism Relat Disord
January 2025
Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, 00165, Italy.
Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.
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