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IAPRD new consensus classification of myoclonus.
Parkinsonism Relat Disord
December 2024
Department of Neurology, Mayo Clinic, 13400 East Shea Blvd, Scottsdale, AZ, 85259, USA. Electronic address:
Introduction: Recent new advances in myoclonus characterization and etiology justify an update of the 40-year-old respected classification of myoclonus proposed by Marsden, Hallett, and Fahn. New advances include genetic studies and clinical neurophysiology characterization.
Methods: The IAPRD appointed an expert panel to develop a new myoclonus classification.
Deciphering the Pathophysiological Mechanisms Underpinning Myoclonus Dystonia Using Pluripotent Stem Cell-Derived Cellular Models.
Cells
September 2024
Neuroscience and Mental Health Innovation Institute, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff CF24 4HQ, UK.
Dystonia is a movement disorder with an estimated prevalence of 1.2% and is characterised by involuntary muscle contractions leading to abnormal postures and pain. Only symptomatic treatments are available with no disease-modifying or curative therapy, in large part due to the limited understanding of the underlying pathophysiology.
View Article and Find Full Text PDFClinical features and mechanisms of neck myoclonus in narcolepsy.
Sleep Med
November 2024
Department of Neurology, Shandong Provincial Qianfoshan Hospital, Cheeloo College of Medicine, Shandong University, NO. 16766, Jingshi Road, Jinan, Shandong, 250014, People's Republic of China; Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, Shandong, People's Republic of China. Electronic address:
Study Objectives: The purpose of this study was to investigate the effects of neck myoclonus (NM) on sleep quality and daytime sleepiness in patients with narcolepsy (NT) and to further explore possible underlying mechanisms.
Methods: We included 72 patients with narcolepsy type 1 (NT1), 34 patients with narcolepsy type 2 (NT2) and 33 healthy controls. Patients underwent questionnaires, lumbar puncture procedure, polysomnography, and multiple sleep latency test (MSLT).
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study.
Orphanet J Rare Dis
May 2024
Department of Neurology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10002, Taiwan.
Background: To investigate the peripheral nervous system involvement in sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central nervous system.
Methods: The clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients.
An observational prospective study based on a large cohort of HIV-negative neurosyphilis patients with particular reference to the Jarisch-Herxheimer reaction.
Eur J Clin Microbiol Infect Dis
June 2024
Sexually Transmitted Disease Institute, Shanghai Skin Disease Hospital, Tongji University School of Medicine, 1278 Baode Road, Shanghai, 200443, China.
Purpose: The purpose of this study is to outline a complete picture of Jarisch-Herxheimer reaction (JHR) in the central nervous system among HIV-negative neurosyphilis patients.
Methods: A prospective study cohort of 772 cases with almost all stages of neurosyphilis depicted the features of JHR including occurrence rate, risk profiles, clinical manifestations, medical management and prognosis.
Results: The total occurrence rate of JHR was 9.
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