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 …

Striatal synaptic dysfunction in dystonia and levodopa-induced dyskinesia

M Scarduzio, EJ Hess, DG Standaert… - Neurobiology of …, 2022 - Elsevier
This review provides an overview of the synaptic dysfunctions of neuronal circuits and
underlying neurochemical alterations observed in the hyperkinetic movement disorders …

DYT-TOR1A dystonia: an update on pathogenesis and treatment

Y Fan, Z Si, L Wang, L Zhang - Frontiers in Neuroscience, 2023 - frontiersin.org
DYT-TOR1A dystonia is a neurological disorder characterized by involuntary muscle
contractions and abnormal movements. It is a severe genetic form of dystonia caused by …

The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes

A Di Fonzo, A Albanese, HA Jinnah - Current opinion in …, 2022 - journals.lww.com
The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …

[HTML][HTML] Synaptic dysfunction in dystonia: update from experimental models

I El Atiallah, P Bonsi, A Tassone… - Current …, 2023 - ncbi.nlm.nih.gov
Dystonia, the third most common movement disorder, refers to a heterogeneous group of
neurological diseases characterized by involuntary, sustained or intermittent muscle …

[HTML][HTML] Postnatal Foxp2 regulates early psychiatric-like phenotypes and associated molecular alterations in the R6/1 transgenic mouse model of Huntington's disease

E Rodríguez-Urgellés, I Rodríguez-Navarro… - Neurobiology of …, 2022 - Elsevier
Huntington's Disease (HD) is a devastating disorder characterized by a triad of motor,
psychiatric and cognitive manifestations. Psychiatric and emotional symptoms appear at …

Neuropathology and morphometry of dentate nucleus neurons in DYT1 brains: Cerebellar abnormalities in isolated dystonia

D Iacono, H Peng, ML Rabin… - Journal of Neuropathology …, 2023 - academic.oup.com
Brain lesions exclusive to dystonia, or specific forms of it, such as isolated dystonia, have
been rarely described. While the identification of distinctive intra-or extraneuronal …

Transgenic mice for the translational study of neuropathic pain and dystonia

D Scuteri, K Hamamura, C Watanabe, P Tonin… - International journal of …, 2022 - mdpi.com
Murine models are fundamental in the study of clinical conditions and the development of
new drugs and treatments. Transgenic technology has started to offer advantages in …

Patient-centered Transcriptomic and Multimodal Neuroimaging Determinants of Clinical Progression, Physical Activity and Treatment Needs in Parkinson Disease

Q Adewale, AF Khan, SJ Lin, TR Baumeister… - medRxiv, 2024 - medrxiv.org
Parkinson disease is a complex and multifactorial disorder, but how its biological and
clinical complexity emerge from molecular to macroscopic brain interactions remains poorly …

Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia

K Pan, HA Jinnah, EJ Hess, Y Smith… - European Journal of …, 2024 - Wiley Online Library
DYT1 dystonia is associated with decreased striatal dopamine release. In this study, we
examined the possibility that ultrastructural changes of nigrostriatal dopamine terminals …