Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

Abstract Background Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence o...

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Bibliographic Details
Main Authors: Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P. Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen, Joel C. Glover
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Dystonia-deafness syndrome
ACTB p.Arg183Trp
Pallidal deep brain stimulation
Striatal neuronal dysfunction
Dopaminergic dysfunction
Online Access:http://link.springer.com/article/10.1186/s11689-018-9235-z

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http://link.springer.com/article/10.1186/s11689-018-9235-z

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