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 …

Dystonia

CD Stephen, K Simonyan, L Ozelius… - Neurobiology of Brain …, 2023 - Elsevier
Dystonia is a common movement disorder involving abnormal, often twisting postures and is
a challenging condition to diagnose as we present here in a comprehensive overview. The …

Tentonin 3/TMEM150c confers distinct mechanosensitive currents in dorsal-root ganglion neurons with proprioceptive function

GS Hong, B Lee, J Wee, H Chun, H Kim, J Jung… - Neuron, 2016 - cell.com
Touch sensation or proprioception requires the transduction of mechanical stimuli into
electrical signals by mechanoreceptors in the periphery. These mechanoreceptors are …

The cerebellum and dystonia

M Bologna, A Berardelli - Handbook of clinical neurology, 2018 - Elsevier
Dystonia is a heterogeneous disorder characterized by involuntary muscle contractions,
twisting movements, and abnormal postures in various body regions. It is widely accepted …

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan—neurodevelopment, channel, and signaling dysfunction

E Menozzi, B Balint, A Latorre, EM Valente… - Movement …, 2019 - Wiley Online Library
Myoclonus‐dystonia is a clinical syndrome characterized by a typical childhood onset of
myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric …

[HTML][HTML] TMC7 functions as a suppressor of Piezo2 in primary sensory neurons blunting peripheral mechanotransduction

X Zhang, J Shao, C Wang, C Liu, H Hao, X Li, Y An… - Cell Reports, 2024 - cell.com
The transmembrane channel-like (TMC) protein family comprises eight members, with TMC1
and TMC2 being extensively studied. This study demonstrates substantial co-expression of …

Substance abuse and movement disorders: complex interactions and comorbidities

A Deik, R Saunders-Pullman… - Current drug abuse …, 2012 - ingentaconnect.com
The relationship between movement disorders and substance abuse, which we previously
reviewed, is updated. We examine these relationships bidirectionally with focus on drugs of …

Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice

S Washburn, R Fremont, MC Moreno-Escobar… - Elife, 2019 - elifesciences.org
Myoclonus dystonia (DYT11) is a movement disorder caused by loss-of-function mutations
in SGCE and characterized by involuntary jerking and dystonia that frequently improve after …

[HTML][HTML] Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice

F Yokoi, J Oleas, H Xing, Y Liu, KM Dexter… - Neurobiology of …, 2020 - Elsevier
DYT1 early-onset generalized torsion dystonia is a hereditary movement disorder
characterized by abnormal postures and repeated movements. It is caused mainly by a …

Genetic animal models of dystonia: common features and diversities

F Richter, A Richter - Progress in neurobiology, 2014 - Elsevier
Animal models are pivotal for studies of pathogenesis and treatment of disorders of the
central nervous system which in its complexity cannot yet be modeled in vitro or using …