ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

ABSTRACT:

Objective

To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship.

Methods

We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. We evaluated clinical features in our 50 new and previously reported cases.

Results

We identified 3 new families and 12 new sporadic cases with ADCY5 mutations. These mutations cause a mixed hyperkinetic disorder that includes dystonia, chorea, and myoclonus, often with facial involvement. The movements are sometimes painful and show episodic worsening on a fluctuating background. Many patients have axial hypotonia. In 2 unrelated fami

SUBMITTER: Chen DH 

PROVIDER: S-EPMC4676753 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature