‘If you can’t beat them, join them’: a patient and family perspective on quality of life with North Sea progressive myoclonus epilepsy
Objective: To describe the perspectives of patients and their family on quality of life (QoL) in North Sea- Progressive Myoclonus Epilepsy (NS-PME). Background: NS-PME is…The Next Move in Movement Disorders: Differentiating between Hyperkinetic Movement Disorders using [18F] FDG PET
Objective: Understanding the differences in brain glucose metabolism between hyperkinetic movement disorders. Background: The Next Move in Movement Disorders (NEMO) study is a research initiative…Deep Brain Stimulation for Post-Hypoxic Myoclonus: A Case Correlating Local Field Potentials to Clinical Outcome
Objective: To correlate local filed potential (LFP) spectral data with clinical improvement of the Unified Myoclonus Rating Scale (UMRS) in post-hypoxic myoclonus (PHM) syndrome treated…Treatment of Post-hypoxic Myoclonus using Bilateral Subthalamic Nuclei Deep Brain Stimulation
Objective: We report the first known case of a patient with refractory post-hypoxic myoclonus (PHM) and focal epilepsy implanted with bilateral subthalamic nuclei (STN) deep…Cortical myoclonus in DHDDS: the multifaced presentation of a single movement disorder
Objective: To characterize the myoclonus spectrum and related clinical burden in patients with autosomal dominant DHDDS deficiency. Background: DHDDS deficiency is a neurometabolic disorder associated…When Jerks and Stumbles Become More Than Just Clumsiness
Objective: To describe a case of a girl with progressive seizures, imbalance and regression due to a rare disorder and discuss the approach to the…Mechanism Study of Familial Cortical Myoclonic Tremor with Epilepsy Type 1 Caused by Pentanucleotide Repeat Expansion in the SAMD12 Gene
Objective: This study aims to explore the pathogenic mechanisms of familial cortical myoclonic tremor with epilepsy (FCMTE) using various cellular models, from the perspectives of…Classification of Tremor and Myoclonus: An Explainable Machine Learning Approach
Objective: Providing a proof of concept for the classification of movement disorders using explainable machine learning applied to power spectra derived from accelerometry recordings. Background:…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…Tremor characteristics in patients with chronic inflammatory demyelinating polyneuropathy
Objective: To describe tremor characteristics in patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). Background: Tremor is an underrecognized symptom of CIDP. There is limited data…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.