Both subthalamic and pallidal deep brain stimulation are effective for GNAO1-associated dystonia: three case reports and a literature review.

ABSTRACT:

Background

Mutations in the G-protein subunit alpha o1 (GNAO1) gene have recently been shown to be involved in the pathogenesis of early infantile epileptic encephalopathy and movement disorders. The clinical manifestations of GNAO1-associated movement disorders are highly heterogeneous. However, the genotype-phenotype correlations in this disease remain unclear, and the treatments for GNAO1-associated movement disorders are still limited.

Objective

The objective of this study was to explore diagnostic and therapeutic strategies for GNAO1-associated movement disorders.

Methods

This study describes the cases of three Chinese patients who had shown severe and progressive dystonia in the absence of epilepsy since early childhood. We performed

SUBMITTER: Liu Y 

PROVIDER: S-EPMC9058460 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature