Sterre van der Veen, Amber Maliepaard, Madelein van der Stouwe, Jelle Dalenberg, Inge Tuitert, Jan Willem J Elting, Marina A J Tijssen
Background: Myoclonus is characterized by involuntary, shock-like movements, of which cortical (CM) and non-cortical myoclonus (NCM) are most common. Electrophysiology can help differentiate between these subtypes; however, the diagnostic value of several features is largely unknown.
Objective: This study aims to determine the diagnostic value of the burst duration in distinguishing CM and NCM.
Methods: We manually identified the burst duration of 8 patients with CM, confirmed by electromyography-electroencephalography registration or somatosensory-evoked potentials, and 19 patients with NCM, suspected due to a myoclonus-dystonia phenotype (MYC/DYT-SGCE positive and negative).
Results: The sensitivity and specificity were calculated to assess the diagnostic value. The burst duration of CM (31.1 ms) was significantly shorter than that of NCM (56.7 ms), with a sensitivity of 100% and a specificity of 89.5% at a threshold of 45.0 ms. A minimum of 10 randomly selected bursts were sufficient for reliable diagnostic accuracy.
Ceren Tunca, Eylül Ece İşlek Camadan, Natalia Smolina, Robin J Palvadeau, Özgür Öztop Çakmak, Atay Vural, Andreas Traschütz, Filippo M Santorelli, Bernard Brais, Rebecca Schüle, Matthis Synofzik, A Nazlı Başak
Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a common recessive ataxia that is still underdiagnosed worldwide. An easily accessible diagnostic biomarker might help to diagnostically confirm patients presenting SACS variants of unknown significance (VUS) or atypical phenotypes.
Objectives: To detect sacsin in peripheral blood mononuclear cells (PBMCs) and to validate its diagnostic biomarker quality to discriminate biallelic SACS patients (including patients with VUS and/or atypical phenotypes) against healthy controls, non-ARSACS spastic ataxia patients, and heterozygous SACS carriers.
Methods: Sacsin protein levels in PBMCs were assessed in patients versus controls and validated in skin-derived fibroblasts.
Results: Patients with biallelic SACS variants - including patients with VUS and/or atypical phenotypes - showed loss of sacsin in PBMCs, with discriminative performance against healthy, heterozygous, and non-ARSACS controls. This included all investigated SACS missense variants. Also, C-terminal variants escaping nonsense-mediated decay, while not differing from controls in expression level, showed lower molecular weight in this assay.
David P Vaughan,Riona Fumi,Marte Theilmann Jensen,Megan Hodgson,Tatiana Georgiades,Lesley Wu,Danielle Lux,Ruth Obrocki,Jennifer Lamoureux,Olaf Ansorge,Kieren S J Allinson,Thomas T Warner,Zane Jaunmuktane,Anjum Misbahuddin,P Nigel Leigh,Boyd C P Ghosh,Kailash P Bhatia,Alistair Church,Christopher Kobylecki,Michele T M Hu,James B Rowe,Cornelis Blauwendraat,Huw R Morris,Edwin Jabbari
Carolin Gabbert MSc, Cholpon Shambetova MD, Christoph Much, Joanne Trinh PhD, Christine Klein MD
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{"title":"A Pilot Group Cognitive Behavioral Therapy Telehealth Intervention for Functional Movement Disorder.","authors":"Vera N Kulikov,Dodie A Gillett,Carine W Maurer","doi":"10.1002/mds.30021","DOIUrl":"https://doi.org/10.1002/mds.30021","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"197 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142245456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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