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.
Keywords
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References
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Article info
Publication history
Published online: August 29, 2018
Accepted:
August 21,
2018
Received:
January 15,
2018
Identification
Copyright
© 2018 Elsevier Ltd. All rights reserved.
