Depression and psychosis in ADCY5-related dyskinesia—part of the phenotypic spectrum?. (November 2018)

• Record Type: Journal Article
• Authors: Vijiaratnam, Nirosen; Newby, Rachel; Kempster, Peter A
• Is Part Of: Journal of clinical neuroscience. Volume 57(2018)
• Page Start: 167
• Page End: 168
• Publication Date: 2018-11
• Subjects: Episodic movement disorders -- ADCY5 mutation -- Psychiatric phenotype; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2018.08.049
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: Mutations in the adenylyl cyclase 5 (ADCY5) gene results in a spectrum of movement disorders. The associated phenotype continues to grow since the initial description. Neuropsychiatric symptoms are rare and poorly described. The spectrum of psychiatric manifestations is detailed in a family. Potential pathogenesis is explored. Abstract: This report details prominent neuropsychiatric features in one family with an ADCY5 gene mutation. ADCY5 mutations cause a variable motor phenotype, though most cases have some core involuntary movement features. The psychiatric aspects of the disorder have not been emphasised in previous publications. We discuss possible pathogenesis.