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

B Balint, NE Mencacci, EM Valente, A Pisani… - Nature reviews Disease …, 2018 - nature.com
Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

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 …

Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment

E Roze, AE Lang, M Vidailhet - Current Opinion in Neurology, 2018 - journals.lww.com
Myoclonus-dystonia: classification, phenomenology, pathogene... : Current Opinion in
Neurology Myoclonus-dystonia: classification, phenomenology, pathogenesis, and …

[HTML][HTML] Dystonia and dopamine: from phenomenology to pathophysiology

B Ribot, J Aupy, M Vidailhet, J Mazere, A Pisani… - Progress in …, 2019 - Elsevier
A line of evidence suggests that the pathophysiology of dystonia involves the striatum,
whose activity is modulated among other neurotransmitters, by the dopaminergic system …

Emerging and converging molecular mechanisms in dystonia

P Gonzalez-Latapi, N Marotta, NE Mencacci - Journal of Neural …, 2021 - Springer
Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

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 …

New perspectives on genomic imprinting, an essential and multifaceted mode of epigenetic control in the developing and adult brain

JD Perez, ND Rubinstein, C Dulac - Annual review of …, 2016 - annualreviews.org
Mammalian evolution entailed multiple innovations in gene regulation, including the
emergence of genomic imprinting, an epigenetic regulation leading to the preferential …

Striatal dopaminergic dysfunction at rest and during task performance in writer's cramp

BD Berman, M Hallett, P Herscovitch, K Simonyan - Brain, 2013 - academic.oup.com
Writer's cramp is a task-specific focal hand dystonia characterized by involuntary excessive
muscle contractions during writing. Although abnormal striatal dopamine receptor binding …

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 …