Botulinum toxin in movement disorders: an update

C Anandan, J Jankovic - Toxins, 2021 - mdpi.com
Since its initial approval in 1989 by the US Food and Drug Administration for the treatment of
blepharospasm and other facial spasms, botulinum toxin (BoNT) has evolved into a …

Genetics and pathogenesis of dystonia

M Thomsen, LM Lange, M Zech… - Annual Review of …, 2024 - annualreviews.org
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Monogenic variants in dystonia: an exome-wide sequencing study

M Zech, R Jech, S Boesch, M Škorvánek… - The Lancet …, 2020 - thelancet.com
Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

D Steel, M Zech, C Zhao, KES Barwick… - Annals of …, 2020 - Wiley Online Library
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after
maximal investigation, implying that a number of causative genes have not yet been …

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

NE Mencacci, RH Reynolds, SG Ruiz, J Vandrovcova… - Brain, 2020 - academic.oup.com
Dystonia is a neurological disorder characterized by sustained or intermittent muscle
contractions causing abnormal movements and postures, often occurring in absence of any …

[HTML][HTML] Dystonia and dopamine: from phenomenology to pathophysiology

B Ribot, J Aupy, M Vidailhet, J Mazere, A Pisani… - Progress in …, 2019 - Elsevier
A line of evidence suggests that the pathophysiology of dystonia involves the striatum,
whose activity is modulated among other neurotransmitters, by the dopaminergic system …

Head movement dynamics in dystonia: a multi-centre retrospective study using visual perceptive deep learning

R Peach, M Friedrich, L Fronemann… - npj Digital …, 2024 - nature.com
Dystonia is a neurological movement disorder characterised by abnormal involuntary
movements and postures, particularly affecting the head and neck. However, current clinical …

Classification of dystonia

L di Biase, A Di Santo, ML Caminiti, PM Pecoraro… - Life, 2022 - mdpi.com
Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

DJS Kuipers, W Mandemakers, CS Lu… - Annals of …, 2021 - Wiley Online Library
Objective The study was undertaken to identify a monogenic cause of early onset,
generalized dystonia. Methods Methods consisted of genome‐wide linkage analysis, exome …

The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia

N Calakos, ZF Caffall - The Journal of Clinical Investigation, 2024 - Am Soc Clin Investig
The integrated stress response (ISR) is a highly conserved biochemical pathway involved in
maintaining proteostasis and cell health in the face of diverse stressors. In this Review, we …