EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Neurology"
DOI: 10.1002/ana.25973
Abstract: The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. read more here.
Keywords: eif2ak2 missense; early onset; generalized dystonia; onset generalized ... See more keywords
New gene implicated in early‐onset generalized dystonia: Lysine‐specific methyltransferase 2B (KMT2B)
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26928
Abstract: Although several genes have been implicated in the pathogenesis of generalized dystonia, most cases remain without an identifiable cause. The incomplete knowledge of the pathophysiology of dystonia is a major obstacle to developing treatments targeting… read more here.
Keywords: early onset; onset generalized; dystonia; gene ... See more keywords
Globus pallidus internus stimulation in spino-cerebellar ataxia type 3
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-8922-8
Abstract: Spino-cerebellar ataxia type 3 (SCA3) is a polyglutamine repeat neurodegenerative disorder sometimes associated with pyramidal signs and dystonia [3]. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has been shown to be an… read more here.
Keywords: cerebellar ataxia; stimulation; dystonia; gpi ... See more keywords
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations
Sign Up to like & getrecommendations! Published in 2020 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000521
Abstract: Objective To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. Methods We performed whole-exome sequencing for identification of likely pathogenic mutations in a… read more here.
Keywords: severe generalized; generalized dystonia; metabolic acidosis; polr3a mutations ... See more keywords
Bilateral pallidotomy for acquired or heredodegenerative generalized dystonia in children.
Sign Up to like & getrecommendations! Published in 2022 at "Neurosurgical focus"
DOI: 10.3171/2022.7.focus22332
Abstract: OBJECTIVE Dystonias are relatively rare disorders characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Generalized dystonia is a therapeutic challenge because medications are unable to control dystonia adequately in most patients.… read more here.
Keywords: heredodegenerative generalized; generalized dystonia; bilateral pallidotomy; dystonia ... See more keywords