Validation of biomarkers in Huntington’s disease to support the development of disease-modifying therapies: a systematic review and critical appraisal scheme
Objective: To review studies for disease progression biomarkers published in HD and evaluate their methodological quality in a standardized manner. Background: Huntington disease (HD) is a fatal autosomal dominant neurodegenerative condition that starts to manifest clinically around the 4th decade of life. There are promising novel genetic-based therapies under development intended to modify the disease trajectory. Valid…Gabapentin-induced severe myoclonus in a patient with impaired renal function
Objective: The aim of this study was to present myoclonus as a reversible side effect of gabapentin in order to bring this trend to clinician’s…Founder effect in (TTTTA)exp(TTTCA)exp and pure (TTTTA)exp in familial cortical myoclonic tremor with epilepsy type 1-SAMD12 locus
Objective: To detect the founder effect between familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) patients with (TTTTA)exp(TTTCA)exp (exp, expansion) in SAMD12 and healthy controls with…PROPRIOSPINAL MYOCLONUS ASSOCIATED TO SARS-COV-2 RESPIRATORY INFECTION
Objective: To describe a case of propriospinal myoclonus (PM) in the setting of respiratory infection by SARS-CoV-2. Background: PM is an uncommon movement disorder characterized…Myoclonus, Tremor, and Ataxia After COVID-19 Infection
Objective: We report a case of myoclonus, tremor, and ataxia after COVID-19 infection with improvement in myoclonus after treatment with levetiracetam. Background: Neurologic manifestations of…SARS-CoV-2 Encephalopathy Presenting as Opsoclonus Myoclonus Syndrome Successfully Treated with IV Immunoglobulins
Objective: To present a case of a SARS-CoV-2 patient presenting with opsoclonus myoclonus syndrome who was successfully treated with IVIGs. Background: The COVID-19 pandemic has…Detection of silent periods of muscle activity related to negative myoclonia
Objective: The aim of the study was to determine if home-monitoring of surface electromyography (EMG) can be used to detect silent periods of muscle activity…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…Lingual myoclonus associated with brain metastasis located near the primary tongue motor cortex: case report.
Objective: To report a case of a patient with lung cancer who developed lingual myoclonus, revealing brain metastases. Background: Lingual myoclonus has been described associated…In vivo relationship between synaptic density and functional connectivity in progressive supranuclear palsy: a multimodal [11C]UCB-J PET and resting state fMRI study.
Objective: To assess the relationship between synaptic density and functional connectivity in the primary tauopathy of Progressive Supranuclear Palsy (PSP). Background: PSP is a debilitating…
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