Classification and genetics of dystonia

PM de Carvalho Aguiar, LJ Ozelius - The Lancet Neurology, 2002 - thelancet.com
Dystonia is a syndrome characterised by sustained muscle contractions, producing twisting,
repetitive, and patterned movements, or abnormal postures. The dystonic syndromes …

Hereditary dystonia as a neurodevelopmental circuit disorder: evidence from neuroimaging

M Niethammer, M Carbon, M Argyelan… - Neurobiology of …, 2011 - Elsevier
Primary dystonia has traditionally been viewed as a basal ganglia disorder, but recent
studies suggest that the cerebellum plays a crucial role in the disease. Primary dystonia is …

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 …

Dystonia–new advances in classification, genetics, pathophysiology and treatment

IM Skogseid - Acta Neurologica Scandinavica, 2014 - Wiley Online Library
Dystonia is a heterogeneous movement disorder and has been defined as 'a syndrome of
sustained muscle contractions, frequently causing twisted and repetitive movements, or …

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia

S Gavarini, C Cayrol, T Fuchs, N Lyons… - Annals of …, 2010 - Wiley Online Library
Primary dystonia is a movement disorder characterized by sustained muscle contractions
and in which dystonia is the only or predominant clinical feature. TOR1A (DYT1) and the …

Genetics and treatment of dystonia

CS Schwarz, SB Bressman - Neurologic clinics, 2009 - neurologic.theclinics.com
Advances in molecular biology have revealed mutations in increasing numbers of genes
that cause several forms of primary and secondary dystonia. Studies of the biologic function …

Convergent mechanisms in etiologically-diverse dystonias

VB Thompson, HA Jinnah, EJ Hess - Expert opinion on therapeutic …, 2011 - Taylor & Francis
Introduction: Dystonia is a neurological disorder associated with twisting motions and
abnormal postures, which compromise normal movements and can be both painful and …

genetics and neuropathology of primary pure dystonia

R Paudel, J Hardy, T Revesz, JL Holton… - Neuropathology and …, 2012 - Wiley Online Library
R. Paudel, J. Hardy, T. Revesz, JL Holton and H. Houlden (2012) Neuropathology and
Applied Neurobiology38, 520–534 Genetics and neuropathology of primary pure dystonia …

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 …

Genetics of dystonia

T Fuchs, LJ Ozelius - Seminars in neurology, 2011 - thieme-connect.com
Dystonia is characterized by muscle contractions leading to abnormal postures with
involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus …