Dystonia as a network disorder: what is the role of the cerebellum?

CN Prudente, EJ Hess, HA Jinnah - Neuroscience, 2014 - Elsevier
The dystonias are a group of disorders defined by sustained or intermittent muscle
contractions that result in involuntary posturing or repetitive movements. There are many …

The focal dystonias: current views and challenges for future research

HA Jinnah, A Berardelli, C Comella… - Movement …, 2013 - Wiley Online Library
The most common forms of dystonia are those that develop in adults and affect a relatively
isolated region of the body. Although these adult‐onset focal dystonias are most prevalent …

Imaging insights into basal ganglia function, Parkinson's disease, and dystonia

AJ Stoessl, S Lehericy, AP Strafella - The Lancet, 2014 - thelancet.com
Recent advances in structural and functional imaging have greatly improved our ability to
assess normal functions of the basal ganglia, diagnose parkinsonian syndromes …

The anatomical basis of dystonia: current view using neuroimaging

S Lehéricy, MAJ Tijssen, M Vidailhet, R Kaji… - Movement …, 2013 - Wiley Online Library
This review will consider the knowledge that neuroimaging studies have provided to the
understanding of the anatomy of dystonia. Major advances have occurred in the use of …

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 …

Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis

J Phukan, A Albanese, T Gasser, T Warner - The Lancet Neurology, 2011 - thelancet.com
The dystonias are a heterogeneous group of hyperkinetic movement disorders
characterised by involuntary sustained muscle contractions that lead to abnormal postures …

Mutations in CIZ1 cause adult onset primary cervical dystonia

J Xiao, RJ Uitti, Y Zhao, SR Vemula… - Annals of …, 2012 - Wiley Online Library
Objective: Primary dystonia is usually of adult onset, can be familial, and frequently involves
the cervical musculature. Our goal was to identify the causal mutation in a family with adult …

The genetics of dystonia: new twists in an old tale

G Charlesworth, KP Bhatia, NW Wood - Brain, 2013 - academic.oup.com
Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of
the disease are important to recognize clinically and also provide valuable information about …

Abnormal high-frequency burst firing of cerebellar neurons in rapid-onset dystonia-parkinsonism

R Fremont, DP Calderon, S Maleki… - Journal of …, 2014 - Soc Neuroscience
Loss-of-function mutations in the α3 isoform of the Na+/K+ ATPase (sodium pump) are
responsible for rapid-onset dystonia parkinsonism (DYT12). Recently, a pharmacological …

Functional genomic analyses of mendelian and sporadic disease identify impaired eIF2α signaling as a generalizable mechanism for dystonia

JE Rittiner, ZF Caffall, R Hernandez-Martinez… - Neuron, 2016 - cell.com
Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role
for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias …