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 …

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 …

Highlighting the Dystonic Phenotype Related to GNAO1

T Wirth, G Garone, MA Kurian, A Piton… - Movement …, 2022 - Wiley Online Library
Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
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 …

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 …

[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 …

Adenylyl cyclase 2 expression and function in neurological diseases

M Gray, KR Nash, Y Yao - CNS Neuroscience & Therapeutics, 2024 - Wiley Online Library
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 …

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 …

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 …

Genetic Links to Episodic Movement Disorders: Current Insights

D Garg, S Mohammad, A Shukla… - The Application of …, 2023 - Taylor & Francis
Episodic or paroxysmal movement disorders (PxMD) are conditions, which occur
episodically, are transient, usually have normal interictal periods, and are characterized by …