Delineation of the movement disorders associated with FOXG1 mutations.

ABSTRACT:

Objective

The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations.

Methods

We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tertiary epilepsy service and retrospectively reviewed medical records, clinical investigations, neuroimaging, and available video footage. We administered a telephone-based questionnaire regarding the functional impact of the movement disorders and perceived efficacy of treatment to the caregivers of one cohort of participants.

Results

We identified 28 patients with FOXG1 mutations, of whom 6 had previously unreported mutations. A wide variety of movement disorders were identified, with dystonia, choreoathetosis, and orolingual

SUBMITTER: Papandreou A 

PROVIDER: S-EPMC4862244 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature