Dystonia genes and their biological pathways

HA Jinnah, YV Sun - Neurobiology of disease, 2019 - Elsevier
The dystonias are a group of disorders characterized by excessive contraction of muscles
leading to abnormal involuntary movements. The clinical manifestations are very …

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 …

Dystonia: clinical features, genetics, and treatment

C Klein, LJ Ozelius - Current opinion in neurology, 2002 - journals.lww.com
The recent mapping of additional dystonia gene loci, the identification of novel dystonia
genes, and the characterization of proteins encoded by these genes have enhanced our …

Recent advances in the genetics of dystonia

J Xiao, SR Vemula, MS LeDoux - Current neurology and neuroscience …, 2014 - Springer
Dystonia, a common and genetically heterogeneous neurological disorder, was recently
defined as “a movement disorder characterized by sustained or intermittent muscle …

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 …

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 …

Dystonia

F Morgante, C Klein - CONTINUUM: Lifelong Learning in …, 2013 - journals.lww.com
The revised classification and identification of new genes for different forms of dystonia,
including adult-onset segmental dystonia, enable an improved diagnostic approach. Recent …

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 …

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 …

Dystonia: an update on phenomenology, classification, pathogenesis and treatment

B Balint, KP Bhatia - Current opinion in neurology, 2014 - journals.lww.com
Phenotypic classification continues to be important to recognize particular forms of dystonia
and this includes syndromic associations. There are a number of genes underlying isolated …