Highlighting the Dystonic Phenotype Related to GNAO1.

ABSTRACT:

Background

Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.

Objective

The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.

Methods

We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early-onset epileptic encephalopathy were excluded.

Results

Twenty-four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showe

SUBMITTER: Wirth T 

PROVIDER: S-EPMC9545634 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature