Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.
Sign Up to like & getrecommendations! Published in 2023 at "Brain and behavior"
DOI: 10.1002/brb3.3023
Abstract: BACKGROUND Primary generalized dystonia due to the DYT1 gene is an autosomal dominant disorder caused by a GAG deletion on chromosome 9q34. It is a well-defined, genetically proven, isolated dystonia syndrome. However, its pathophysiology remains… read more here.
Keywords: findings dyt1; neuroimaging findings; dyt1 dystonia; systematic review ... See more keywords
Holmes Tremor‐Like Phenotype in DYT1 Dystonia
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12585
Abstract: Fil: Rodriguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejia"; Argentina read more here.
Keywords: holmes tremor; dyt1 dystonia; phenotype dyt1; tremor like ... See more keywords
The cognitive features of idiopathic and DYT1 dystonia
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.27048
Abstract: Dystonia is a common movement disorder. In this paper, we review the literature on cognitive function in idiopathic and DYT1 dystonia. In idiopathic or DYT1 dystonia, cognition is largely intact with only isolated executive dysfunction.… read more here.
Keywords: features idiopathic; dystonia; dyt1 dystonia; cognitive features ... See more keywords
Alpha‐Synuclein is Involved in DYT1 Dystonia Striatal Synaptic Dysfunction
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29024
Abstract: The neuronal protein alpha‐synuclein (α‐Syn) is crucially involved in Parkinson's disease pathophysiology. Intriguingly, torsinA (TA), the protein causative of DYT1 dystonia, has been found to accumulate in Lewy bodies and to interact with α‐Syn. Both… read more here.
Keywords: dystonia striatal; involved dyt1; dyt1 dystonia; synuclein involved ... See more keywords
Investigating the role of striatal dopamine receptor 2 in motor coordination and balance: Insights into the pathogenesis of DYT1 dystonia
Sign Up to like & getrecommendations! Published in 2021 at "Behavioural Brain Research"
DOI: 10.1016/j.bbr.2021.113137
Abstract: DYT1 or DYT-TOR1A dystonia is early-onset, generalized dystonia. Most DYT1 dystonia patients have a heterozygous trinucleotide GAG deletion in DYT1 or TOR1A gene, with a loss of a glutamic acid residue of the protein torsinA.… read more here.
Keywords: dyt1; dyt1 dystonia; motor; drd2 ... See more keywords