Paroxysmal movement disorders
S Harvey, MD King, KM Gorman - Frontiers in neurology, 2021 - frontiersin.org
Paroxysmal movement disorders (PxMDs) are a clinical and genetically heterogeneous
group of movement disorders characterized by episodic involuntary movements (dystonia …
group of movement disorders characterized by episodic involuntary movements (dystonia …
Treatable hyperkinetic movement disorders not to be missed
A Méneret, B Garcin, S Frismand, A Lannuzel… - Frontiers in …, 2021 - frontiersin.org
Hyperkinetic movement disorders are characterized by the presence of abnormal
involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor …
involuntary movements, comprising most notably dystonia, chorea, myoclonus, and tremor …
Highlighting the Dystonic Phenotype Related to GNAO1
Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …
Efficacy of caffeine in ADCY5‐related dyskinesia: A retrospective study
A Méneret, SS Mohammad, L Cif… - Movement …, 2022 - Wiley Online Library
Background ADCY5‐related dyskinesia is characterized by early‐onset movement
disorders. There is currently no validated treatment, but anecdotal clinical reports and …
disorders. There is currently no validated treatment, but anecdotal clinical reports and …
Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia
A Ekmen, A Meneret, R Valabregue, B Beranger… - Neurology, 2022 - AAN Enterprises
Background and Objectives The main culprit gene for paroxysmal kinesigenic dyskinesia,
characterized by brief and recurrent attacks of involuntary movements, is PRRT2. The …
characterized by brief and recurrent attacks of involuntary movements, is PRRT2. The …
[HTML][HTML] Rare Earth Element Content in Hair Samples of Children Living in the Vicinity of the Kola Peninsula Mining Site and Nervous System Diseases
NK Belisheva, SV Drogobuzhskaya - Biology, 2024 - mdpi.com
Simple Summary Rare earth elements (REEs) are widely used in various fields of human
activity. However, data from many studies indicate the harmful effects of REEs on humans …
activity. However, data from many studies indicate the harmful effects of REEs on humans …
Adenylyl cyclase 2 expression and function in neurological diseases
Adenylyl cyclases (Adcys) catalyze the formation of cAMP, a secondary messenger essential
for cell survival and neurotransmission pathways in the CNS. Adcy2, one of ten Adcy …
for cell survival and neurotransmission pathways in the CNS. Adcy2, one of ten Adcy …
Fixel‐Based Analysis Reveals Whole‐Brain White Matter Abnormalities in Cervical Dystonia
GA Zito, C Tarrano, S Ouarab… - Movement …, 2023 - Wiley Online Library
Background Cervical dystonia (CD) is a form of isolated focal dystonia typically associated to
abnormal head, neck, and shoulder movements and postures. The complexity of the clinical …
abnormal head, neck, and shoulder movements and postures. The complexity of the clinical …
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review
M Mastrangelo, F Manti, G Ricciardi… - European Journal of …, 2024 - Springer
The purpose of this study is to investigate the diagnostic and prognostic role of
cerebrospinal fluid (CSF) biomarkers in the diagnostic work-up of glucose transporter 1 …
cerebrospinal fluid (CSF) biomarkers in the diagnostic work-up of glucose transporter 1 …
Genetic Links to Episodic Movement Disorders: Current Insights
Episodic or paroxysmal movement disorders (PxMD) are conditions, which occur
episodically, are transient, usually have normal interictal periods, and are characterized by …
episodically, are transient, usually have normal interictal periods, and are characterized by …