| Literature DB >> 30172639 |
Nirosen Vijiaratnam1, Rachel Newby2, Peter A Kempster3.
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.Entities:
Keywords: ADCY5 mutation; Episodic movement disorders; Psychiatric phenotype
Mesh:
Substances:
Year: 2018 PMID: 30172639 DOI: 10.1016/j.jocn.2018.08.049
Source DB: PubMed Journal: J Clin Neurosci ISSN: 0967-5868 Impact factor: 1.961