ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

ABSTRACT:

Introduction

ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated.

Methods

We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia. All patients had normal CSF analysis and brain imaging and were regularly followed-up in tertiary centers for paediatric movement disorders.

Results

We identified five unrelated subjects with ADC

SUBMITTER: Carecchio M 

PROVIDER: S-EPMC5549507 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature