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…‘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…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…Myoclonus – encephalopathy induced by ifosfamide in a Non-Hodgkin lymphoma patient
Objective: Describe a clinical vignette about toxicity by ifosfamide in a man with follicular lymphoma (FL) that presented myoclonus and altered consciousness six hours after…Using fMRI-based multivariate pattern analysis to differentiate between hyperkinetic movement disorders
Objective: We aimed to investigate differences in functional magnetic resonance imaging (fMRI) brain responses across hyperkinetic movement disorders (HMDs) during a bilateral finger-tapping task.We aimed…The Burst Duration in Cortical Myoclonus Patients, What is the Cut-Off?
Objective: The aim of this study is to identify a cut-off value for the burst duration of cortical myoclonus in a large cohort of myoclonus…Novel Dentato-Olivo-Luysian Atrophy in a Greek Family
Objective: To describe a unique Greek family with a Dentatorubral-pallidoluysian atrophy (DRPLA) like clinical presentation and a distinctive neuropathological phenotype. Background: DRPLA is a cause…A Case of Lance Adams Syndrome with See-Saw Nystagmus
Objective: We present a case of Lance Adams syndrome (LAS) with see-saw nystagmus (SSN). LAS is a rare entity and first reported by Lance and Adams…
