Current opinions and areas of consensus on the role of the cerebellum in dystonia

VG Shakkottai, A Batla, K Bhatia, WT Dauer, C Dresel… - The Cerebellum, 2017 - Springer
A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated
movement, is widely accepted. Recent work has suggested that alterations in activity …

Dystonia

B Balint, NE Mencacci, EM Valente, A Pisani… - Nature reviews Disease …, 2018 - nature.com
Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

Striatal cholinergic dysfunction as a unifying theme in the pathophysiology of dystonia

KLE Jaunarajs, P Bonsi, MF Chesselet… - Progress in …, 2015 - Elsevier
Dystonia is a movement disorder of both genetic and non-genetic causes, which typically
results in twisted posturing due to abnormal muscle contraction. Evidence from dystonia …

Behavioural phenotypes in the cuprizone model of central nervous system demyelination

MK Sen, DA Mahns, JR Coorssen… - … & Biobehavioral Reviews, 2019 - Elsevier
The feeding of cuprizone (CPZ) to animals has been extensively used to model the
processes of demyelination and remyelination, with many papers adopting a narrative linked …

TorsinA hypofunction causes abnormal twisting movements and sensorimotor circuit neurodegeneration

CC Liang, LM Tanabe, S Jou, F Chi… - The Journal of clinical …, 2014 - Am Soc Clin Investig
Lack of a preclinical model of primary dystonia that exhibits dystonic-like twisting movements
has stymied identification of the cellular and molecular underpinnings of the disease. The …

A role for cerebellum in the hereditary dystonia DYT1

R Fremont, A Tewari, C Angueyra, K Khodakhah - elife, 2017 - elifesciences.org
DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA.
How these mutations cause dystonia remains unknown. Mouse models which have …

Forebrain deletion of the dystonia protein torsinA causes dystonic-like movements and loss of striatal cholinergic neurons

SS Pappas, K Darr, SM Holley, C Cepeda, OS Mabrouk… - Elife, 2015 - elifesciences.org
Striatal dysfunction plays an important role in dystonia, but the striatal cell types that
contribute to abnormal movements are poorly defined. We demonstrate that conditional …

Striatal synaptic dysfunction in dystonia and levodopa-induced dyskinesia

M Scarduzio, EJ Hess, DG Standaert… - Neurobiology of …, 2022 - Elsevier
This review provides an overview of the synaptic dysfunctions of neuronal circuits and
underlying neurochemical alterations observed in the hyperkinetic movement disorders …

Emerging and converging molecular mechanisms in dystonia

P Gonzalez-Latapi, N Marotta, NE Mencacci - Journal of Neural …, 2021 - Springer
Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia

CH Song, X Fan, CJ Exeter, EJ Hess, HA Jinnah - Neurobiology of disease, 2012 - Elsevier
The dystonias are a group of disorders characterized by involuntary twisting movements and
abnormal posturing. The most common of the inherited dystonias is DYT1 dystonia, which is …