An update on the phenotype, genotype and neurobiology of ADCY5‐related disease

A Ferrini, D Steel, K Barwick, MA Kurian - Movement Disorders, 2021 - Wiley Online Library
ABSTRACT Adenylyl cyclase 5 (ADCY5)‐related phenotypes comprise an expanding
disease continuum, but much remains to be understood about the underlying pathogenic …

[HTML][HTML] Clinical and genetic overview of paroxysmal movement disorders and episodic ataxias

G Garone, A Capuano, L Travaglini, F Graziola… - International Journal of …, 2020 - mdpi.com
Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …

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 …

ADCY5–related dyskinesia: improving clinical detection of an evolving disorder

N Vijiaratnam, KP Bhatia, AE Lang… - Movement Disorders …, 2019 - Wiley Online Library
Background The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)‐related disease has
expanded considerably since the first description of the disorder in 1978 as familial essential …

[HTML][HTML] 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 …

[HTML][HTML] Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series

AL de Almeida Marcelino, T Mainka, P Krause… - Journal of …, 2020 - Springer
Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder.
Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur …

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 …

Sleep disorders in patients with choreic syndromes

FJ Jiménez-Jiménez, H Alonso-Navarro… - Current Neurology and …, 2023 - Springer
Abstract Purpose of Review Patients with different types of choreic syndromes, specially
those with Huntington's (HD) and Wilson's (WD) diseases, report frequent sleep complaints …

Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms

J Sringean - Current Opinion in Neurology, 2024 - journals.lww.com
Sleep problems can manifest as a result of movement disorders, either through direct motor
disturbances or secondary nonmotor symptoms. Medication effects must be considered, as …

Movements and behaviors during spontaneous arousals in healthy young adults: an intermediary stage between wakefulness and sleep?

AB Brás, JB Maranci, Z Yang, C Chaumereuil, I Arnulf - Sleep Medicine, 2022 - Elsevier
Background Arousals are common, sudden and transient elevations of the vigilance level
during normal sleep, but arousal-associated behaviors have not yet been studied. Objective …