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Clinical neurophysiology for tremor: Common questions in clinical practice
(2024)
Petra Schwingenschuh
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Madelein Van der Stouwe
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Sanjay Pandey
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Stephanie Hirschbichler
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Pattamon Panyakaew
Scopus© Citations 2 1
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Global Perceptions and Utilization of Clinical Neurophysiology in Movement Disorders
(2024)
Panagiotis Kassavetis
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Robert Chen
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Christos Ganos
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Mark Hallett
;
Masashi Hamada
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Clinical neurophysiology (CNP) involves the use of neurophysiological techniques to make an accurate clinical diagnosis, to quantify the severity, and to measure the treatment response. Despite several studies showing CNP to be a useful diagnostic tool in Movement Disorders (MD), its more widespread utilization in clinical practice has been limited.</jats:p></jats:sec><jats:sec><jats:title>Objectives</jats:title><jats:p>To better understand the current availability, global perceptions, and challenges for implementation of diagnostic CNP in the clinical practice of MD.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The International Parkinson and Movement Disorders Society (IPMDS) formed a Task Force on CNP. The Task Force distributed an online survey via email to all the members of the IPMDS between August 5 and 30, 2021. Descriptive statistics were used for analysis of the survey results. Some results are presented by IPMDS geographical sections namely PanAmerican (PAS), European (ES), African (AFR), Asian and Oceanian (AOS).</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Four hundred and ninety‐one IPMDS members (52% males), from 196 countries, responded. The majority of responders from the AFR (65%) and PAS (63%) sections had no formal training in diagnostic CNP (40% for AOS and 37% for ES). The most commonly used techniques are electroencephalography (EEG) (72%) followed by surface EMG (71%). The majority of responders think that CNP is somewhat valuable or very valuable in the assessment of MD. All the sections identified “lack of training” as one of the biggest challenges for diagnostic CNP studies in MD.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>CNP is perceived to be a useful diagnostic tool in MD. Several challenges were identified that prevent widespread utilization of CNP in MD.</jats:p></jats:sec>
Scopus© Citations 6 4
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KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation
(2022)
Bennett Lavenstein
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Patrick McGurrin
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Sanaz Attaripour
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VIAL UNDURRAGA, FELIPE AGUSTIN
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Mark Hallett
Scopus© Citations 6 2
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The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications
(2022)
Andreas Brunklaus
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Tobias Brünger
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Tony Feng
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Carmen Fons
;
Anni Lehikoinen
<jats:title>Abstract</jats:title> <jats:p>Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals.</jats:p> <jats:p>Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological recordings comparing sodium channels containing wild-type versus variant NaV1.1 subunits. Findings were related to Dravet syndrome and familial hemiplegic migraine type 3 variants.</jats:p> <jats:p>We identified three distinct clinical presentations differing by age at onset and presence of arthrogryposis and/or movement disorder. The most severely affected infants (n = 13) presented with congenital arthrogryposis, neonatal onset epilepsy in the first 3 days of life, tonic seizures and apnoeas, accompanied by a significant movement disorder and profound intellectual disability. Twenty-one patients presented later, between 2 weeks and 3 months of age, with a severe early infantile developmental and epileptic encephalopathy and a movement disorder. One patient presented after 3 months with developmental and epileptic encephalopathy only. Associated SCN1A variants cluster in regions of channel inactivation associated with gain of function, different to Dravet syndrome variants (odds ratio = 17.8; confidence interval = 5.4–69.3; P = 1.3 × 10−7). Functional studies of both epilepsy and familial hemiplegic migraine type 3 variants reveal alterations of gating properties in keeping with neuronal hyperexcitability. While epilepsy variants result in a moderate increase in action current amplitude consistent with mild gain of function, familial hemiplegic migraine type 3 variants induce a larger effect on gating properties, in particular the increase of persistent current, resulting in a large increase of action current amplitude, consistent with stronger gain of function.</jats:p> <jats:p>Clinically, 13 out of 16 (81%) gain of function variants were associated with a reduction in seizures in response to sodium channel blocker treatment (carbamazepine, oxcarbazepine, phenytoin, lamotrigine or lacosamide) without evidence of symptom exacerbation.</jats:p> <jats:p>Our study expands the spectrum of gain of function SCN1A-related epilepsy phenotypes, defines key clinical features, provides novel insights into the underlying disease mechanisms between SCN1A-related epilepsy and familial hemiplegic migraine type 3, and identifies sodium channel blockers as potentially efficacious therapies. Gain of function disease should be considered in early onset epilepsies with a pathogenic SCN1A variant and non-Dravet syndrome phenotype.</jats:p>
Scopus© Citations 45 20
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Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case
(2016)
Maria Cecilia Pesce Ortega
;
Nicolás Patricio SkármetA
;
Yaglyn Jarpa Diaz
10Scopus© Citations 12

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