Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia

CH Song, D Bernhard, C Bolarinwa, EJ Hess… - Neurobiology of …, 2013 - Elsevier
The dystonias are comprised of a group of disorders that share common neurological
abnormalities of involuntary twisting or repetitive movements and postures. The most …

[HTML][HTML] Dopamine receptor and Gα (olf) expression in DYT1 dystonia mouse models during postnatal development

L Zhang, DM McCarthy, N Sharma, PG Bhide - PloS one, 2015 - journals.plos.org
Background DYT1 dystonia is a heritable, early-onset generalized movement disorder
caused by a GAG deletion (ΔGAG) in the DYT1 gene. Neuroimaging studies and studies …

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 …

The autosomal dominant dystonias

T Gasser, S Fahn, XO Breakefield - Brain Pathology, 1992 - Wiley Online Library
Dystonia is a term used to describe a specific set of abnormal movements that can occur as
a symptom of a variety of neurologic disorders, but also as a disease entity in its own right …

[HTML][HTML] Recognizing the common origins of dystonia and the development of human movement: a manifesto of unmet needs in isolated childhood dystonias

JP Lin, N Nardocci - Frontiers in neurology, 2016 - frontiersin.org
Dystonia in childhood may be severely disabling and often unremitting and unrecognized.
Considered a rare disorder, dystonic symptoms in childhood are pervasive in many …

Disease modeling with human neurons reveals LMNB1 dysregulation underlying DYT1 dystonia

B Ding, Y Tang, S Ma, M Akter, ML Liu… - Journal of …, 2021 - Soc Neuroscience
DYT1 dystonia is a hereditary neurologic movement disorder characterized by
uncontrollable muscle contractions. It is caused by a heterozygous mutation in Torsin A …

Cholinergic dysfunction alters synaptic integration between thalamostriatal and corticostriatal inputs in DYT1 dystonia

G Sciamanna, A Tassone, G Mandolesi… - Journal of …, 2012 - Soc Neuroscience
Projections from thalamic intralaminar nuclei convey sensory signals to striatal cholinergic
interneurons. These neurons respond with a pause in their pacemaking activity, enabling …

Genetics of dystonia: an overview

SB Bressman - Parkinsonism & related disorders, 2007 - Elsevier
The torsion dystonias encompass a broad collection of etiologic subtypes, often divided into
primary and secondary classes. Over the last two decades an increasing number of genetic …

Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing

I Dzinovic, J Winkelmann, M Zech - Parkinsonism & Related Disorders, 2022 - Elsevier
Animal and human brain-imaging studies have suggested a role for neurodevelopmental
abnormalities in the pathophysiology of dystonia. Variants in neurodevelopmental genes …

Engineering animal models of dystonia

J Oleas, F Yokoi, MP DeAndrade, A Pisani… - Movement …, 2013 - Wiley Online Library
Dystonia is a neurological disorder characterized by abnormal involuntary movements that
are prolonged and often cause twisting and turning. Several genetically modified worms …