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Unraveling the neural signatures: Distinct pallidal patterns in dystonia subtypes.
Parkinsonism Relat Disord
January 2025
Department of Biomedical Engineering, Case Western Reserve University, Cleveland, OH, USA; Department of Neurology, Case Western Reserve University, Cleveland, OH, USA; Neurological Institute, University Hospitals, Cleveland, OH, USA; Neurology Service, Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA. Electronic address:
Introduction: Dystonia manifests as slow twisting movements (pure dystonia) or repetitive, jerky motions (jerky dystonia). Dystonia can coexist with myoclonus (myoclonus dystonia) or tremor (tremor dystonia). Each of these presentations can have distinct etiology, can involve discrete sensorimotor networks, and may have characteristic neurophysiological signature.
View Article and Find Full Text PDFLNC-ing Genetics in Mitochondrial Disease.
Noncoding RNA
November 2024
Department of Medicine, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Primary mitochondrial disease (MD) is a group of rare genetic diseases reported to have a prevalence of 1:5000 and is currently without a cure. This group of diseases includes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), Leber's hereditary optic neuropathy (LHON), Leigh syndrome (LS), Kearns-Sayre syndrome (KSS), and myoclonic epilepsy and ragged-red fiber disease (MERRF). Additionally, secondary mitochondrial dysfunction has been implicated in the most common current causes of mortality and morbidity, including cardiovascular disease (CVD) and cancer.
View Article and Find Full Text PDFMultimodal Assessment of the Origin of Myoclonus in Lance-Adams Syndrome.
Neurology
December 2024
From the Paris Brain Institute (G.V., E.A., P.B., V.N.), ICM, Inserm, CNRS, Sorbonne University; AP-HP (G.V., V.N.), EEG Unit, Department of Neurophysiology, Pitié-Salpêtrière Hospital; AP-HP (E.A.), Neurophysiology of Movement Disorders Unit, Department of Neurophysiology, Saint-Antoine and Pitié-Salpêtrière Hospital; AP-HP (M.A.D.R.Q., V.N.), Epilepsy Unit, Department of Neurology, Reference Center of Rare Epilepsies, ERN-EpiCare, Pitié-Salpêtrière Hospital; AP-HP (D.V.C., A.K.), Department of Nuclear Medicine, Pitié-Salpêtrière Hospital, APHP Sorbonne University; Sorbonne University (A.K.), Inserm, CNRS, Laboratoire D'Imagerie Biomédicale, LIB, Paris, France.
Background And Objectives: Lance-Adams syndrome (LAS), or chronic posthypoxic myoclonus, is a long-term disabling neurologic disorder occurring in survivors of anoxia. The cortical or subcortical origin of this myoclonus is unclear. We aimed to identify the neuroanatomical origin of myoclonus in LAS.
View Article and Find Full Text PDFProgressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.
Ann Clin Transl Neurol
November 2024
Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.
Article Synopsis
- * Researchers examined 231 patients and found that 31 had ST-1, with 80.6% of them carrying the c.544A>G mutation; they identified other NEU1 variants, including two novel ones.
- * The study concluded that ST-1 should be considered in Southeastern Chinese patients exhibiting PMA or ataxia symptoms, suggesting that genetic testing for the NEU1 c.544A>G mutation could be a key diagnostic
Restricted Cortical Activity Involving Parietal Lobe and Sublobar Region Leads to Generalized Spike-Wave Discharges of Juvenile Myoclonic Epilepsy: Evidence from an EEG Source Localization Study.
Neurol India
September 2024
Department of Neurology, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India.
Background: Previous studies have localized the origin of "generalized" spike-wave discharges of idiopathic generalized epilepsies to specific brain regions. Although there are studies in juvenile myoclonic epilepsy (JME) which have investigated the origin of spike-wave discharges, reports on the propagation of discharges are sparse.
Objective: The current study investigated the propagation of spike-wave discharges in JME, which was investigated by statistically comparing the electroencephalography (EEG)-derived cortical source activity during (a) various phases of spike-wave discharge versus background (eyes closed) activity, and (b) various phases of the first spike wave versus the corresponding phase of subsequent spike waves.
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