Person: Vial Undurraga, Felipe
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Vial Undurraga
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Felipe
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Publication Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype(2023) Vial Undurraga, Felipe; Gurrin, Patrick M.; Osterholt, Thomas; Ehrlich, Debra J.; Iannacone, Susan T.; Donkervoort, Sandra; Neuhaus, Sarah B.; Chao, Katherine C.; Bƶnnemann, Carsten G.; Haubenberger, Dietrich; Hallet, MarkBackground: The concept of a myopathy with associated tremor ("myogenic tremor") in humans has been previously described for specific MYBPC1 (Myosin-Binding Protein C) variants. Here we report for the first time an individual with tremor who was found to have a de-novo likely pathogenic variant in Myosin Heavy Chain 7 (MYH7). We provide a detailed electrophysiological characterization of the tremor syndrome in a human individual with a myopathy and this pathogenic MYH7 variant to provide further insight in the phenotypic spectrum and pathomechanism of myogenic tremors in skeletal sarcomeric myopathies. Methods: Electromyographic recordings were obtained from facial muscles, as well as bilateral upper and lower extremities. Results: 10 to 11 Hz activity was observed in the face and extremities during recordings with muscle activation. There were intermittent episodes of significant left-right coherence that would modulate across muscle groups throughout the recording, but no coherence between muscles at different levels of the neuraxis. Conclusions: A possible explanation for this phenomenon is that the tremor originates at the sarcomere level within muscles, which is then picked up by muscle spindles and leads to activating input to the neuraxis segment. At the same time, the stability of the tremor frequency does suggest the presence of central oscillators at the segmental level. Thus, further studies will be needed to determine the origin of myogenic tremor and to better understand the pathomechanism.Publication Physiology of Tremor Reduction by Putting the Hands Together in Essential Tremor(2022) McGurrin, Patrick; Vial Undurraga, Felipe; Osterholt, Thomas; Norato, Gina; Khan, Imran; Haubenberger, Dietrich; Ehrlich, Debra; Hallett, MarkBackground: Background Essential tremor is a common movement disorder, characterized by 4ā12 Hz tremor of the hands and arms that can affect many activities of daily living. It has been reported by patients that when performing tasks bimanually their tremor is reduced, but why this happens is unknown. Objectives: Objectives We measured patientsā tremors in different conditions when performed with 1 hand and 2 hands to observe if bimanual task performance changes the characteristics of the tremor. Methods: Methods A total of 10 patients with essential tremor participated in the study. Electromyographic electrodes were attached bilaterally to the wrist flexor and extensor muscles, and accelerometers were attached to the dorsum of the hands. For each condition, holding a cup, wingbeat, and extending both arms up, data were collected with a single hand and bimanually with the hands touching. Results: Results When the hands were touching, there was a significant decrease in both accelerometric and electromyographic power at the tremor frequency. In addition, there was a decrease in coherence between accelerometer and electromyography on the same side. There was no change in the tremor frequency. Conclusions: Conclusions Tremor amplitude does decrease when the hands are together. Together, the characteristics underlying the decrease in tremor amplitude may indicate a decrease in power of the central oscillator driving the tremor, which we speculate is attributed to the differences in unimanual and bimanual motor control. However, given the small sample size, we note that future hypothesis-driven studies with an a priori power analysis will be required to further explore this phenomenon.Publication Global Perceptions and Utilization of Clinical Neurophysiology in Movement Disorders(2024) Kassavetis, Panagiotis; Chen, Robert; Ganos, Christos; Hallett, Mark; Hamada, Masashi; Latorre, Anna; Pal, Pramod; Schwingenschuh, Petra; Vial Undurraga, Felipe; Tijssen, Marina; Merchant, ShabbirBackground: 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. Objectives: To better understand the current availability, global perceptions, and challenges for implementation of diagnostic CNP in the clinical practice of MD. Methods: 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). Results: 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. Conclusions: CNP is perceived to be a useful diagnostic tool in MD. Several challenges were identified that prevent widespread utilization of CNP in MD.