Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.
Sign Up to like & getrecommendations! Published in 2020 at "Neuroscience bulletin"
DOI: 10.1007/s12264-020-00612-5
Abstract: Myoclonus dystonia syndrome (MDS) is an inherited movement disorder, and most MDS-related mutations have so far been found in the ε-sarcoglycan (SGCE) coding gene. By generating SGCE-knockout (KO) and human 237 C > T mutation knock-in (KI)… read more here.
Keywords: movement; dystonia syndrome; movement disorder; mds ... See more keywords
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep41042
Abstract: Myoclonus-dystonia syndrome (MDS) is a rare autosomal dominant inherited disorder characterized by the presentation of both myoclonic jerks and dystonia. Evidence is emerging that deep brain stimulation (DBS) may be a promising treatment for MDS.… read more here.
Keywords: dyt1 dyt11; dystonia syndrome; dbs; mds ... See more keywords
Pearls & Oy-sters: SCA21 Due to TMEM240 Variation Presenting as Myoclonus Dystonia Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201015
Abstract: Spinocerebellar ataxia 21 due to TMEM240 disease-associated variation characteristically presents insidiously with a delay in language, motor, and social skill acquisition. The condition typically progresses to severe cognitive impairment. We report a patient with SCA21… read more here.
Keywords: dystonia syndrome; tmem240 variation; variation; due tmem240 ... See more keywords