BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations. METHODS: In 5 of the 7 patients, followed over a period of 9 to 32 years, ADCY5 was sequenced by Sanger sequencing. The other 2 unrelated patients participated in studies for undiagnosed pediatric hyperkinetic movement disorders and underwent whole-exome sequencing. RESULTS: Five patients had the previously reported p.R418W ADCY5 mutat...
Background: DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late p...
none8siObjective: To characterise the distinctive eye movement disorder and the sleep-related dyskin...
Background and Objective: The objective of this study was to better delineate the genetic landscape ...
Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: famili...
Adenylyl cyclase 5 (ADCY5)-related phenotypes comprise an expanding disease continuum, but much rema...
Background:The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)-related disease has expanded consid...
Background The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)‐related disease has expanded consi...
Background Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-ons...
BackgroundAdenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onse...
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined ben...
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia as...
DYT‐5 dystonia usually presents as a dopa‐responsive dystonia (DRD) with early or late parkinsonian ...
Background: Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder that i...
Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbatio...
Background: We investigated a family that presented with an infantile-onset chorea-predominant movem...
Background: DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late p...
none8siObjective: To characterise the distinctive eye movement disorder and the sleep-related dyskin...
Background and Objective: The objective of this study was to better delineate the genetic landscape ...
Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: famili...
Adenylyl cyclase 5 (ADCY5)-related phenotypes comprise an expanding disease continuum, but much rema...
Background:The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)-related disease has expanded consid...
Background The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)‐related disease has expanded consi...
Background Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-ons...
BackgroundAdenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onse...
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined ben...
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia as...
DYT‐5 dystonia usually presents as a dopa‐responsive dystonia (DRD) with early or late parkinsonian ...
Background: Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder that i...
Mutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbatio...
Background: We investigated a family that presented with an infantile-onset chorea-predominant movem...
Background: DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late p...
none8siObjective: To characterise the distinctive eye movement disorder and the sleep-related dyskin...
Background and Objective: The objective of this study was to better delineate the genetic landscape ...