Ontology highlight
ABSTRACT:
SUBMITTER: Vijiaratnam N
PROVIDER: S-EPMC6749814 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Vijiaratnam Nirosen N Bhatia Kailash P KP Lang Anthony E AE Raskind Wendy H WH Espay Alberto J AJ
Movement disorders clinical practice 20190819 7
<h4>Background</h4>The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)-related disease has expanded considerably since the first description of the disorder in 1978 as familial essential chorea in a multiplex family.<h4>Objective</h4>To examine recent advances in the understanding of ADCY5-related dyskinesia and outline a diagnostic approach to enhance clinical detection.<h4>Methods</h4>A pragmatic review of the ADCY5 literature was undertaken to examine unique genetic and pathophysiological f ...[more]