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…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…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…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…
