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 …

The pathophysiological basis of dystonias

XO Breakefield, AJ Blood, Y Li, M Hallett… - Nature Reviews …, 2008 - nature.com
Dystonias comprise a group of movement disorders that are characterized by involuntary
movements and postures. Insight into the nature of neuronal dysfunction has been provided …

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

RE Goodchild, CE Kim, WT Dauer - Neuron, 2005 - cell.com
An enigmatic feature of many genetic diseases is that mutations in widely expressed genes
cause tissue-specific illness. One example is DYT1 dystonia, a neurodevelopmental disease …

Disrupted motor learning and long-term synaptic plasticity in mice lacking NMDAR1 in the striatum

MT Dang, F Yokoi, HH Yin… - Proceedings of the …, 2006 - National Acad Sciences
Much research has implicated the striatum in motor learning, but the underlying mechanisms
have not been identified. Although NMDA receptor (NMDAR)-dependent long-term …

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 …

Performance of male and female C57BL/6J mice on motor and cognitive tasks commonly used in pre-clinical traumatic brain injury research

LB Tucker, AH Fu, JT McCabe - Journal of neurotrauma, 2016 - liebertpub.com
To date, clinical trials have failed to find an effective therapy for victims of traumatic brain
injury (TBI) who live with motor, cognitive, and psychiatric complaints. Pre-clinical …

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 …

The monogenic primary dystonias

U Müller - Brain, 2009 - academic.oup.com
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1–4, 5a, b, 6–8,
10–13 and 15–18 (loci DYT 1–4, 5a, b, 6–8, 10–13, 15–18) have been recognized. Twelve …

Functional architecture of the cell's nucleus in development, aging, and disease

B Burke, CL Stewart - Current topics in developmental biology, 2014 - Elsevier
In eukaryotes, the function of the cell's nucleus has primarily been considered to be the
repository for the organism's genome. However, this rather simplistic view is undergoing a …

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 …