ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

doi:10.1016/j.parkreldis.2017.05.004

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Article

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

Parkinsonism & related disorders - 1 Aug 2017

Carecchio Miryam, Mencacci Niccolò E, Iodice Alessandro, Pons Roser, Panteghini Celeste, Zorzi Giovanna, Zibordi Federica, Bonakis Anastasios, Dinopoulos Argyris, Jankovic Joseph, Stefanis Leonidas, Bhatia Kailash P, Monti Valentina, R'Bibo Lea, Veneziano Liana, Garavaglia Barbara, Fusco Carlo, Wood Nicholas, Stamelou Maria, Nardocci Nardo

Abstract excerpt

INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in...

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Identifiers

PMID: 28511835
DOI: 10.1016/j.parkreldis.2017.05.004
PMCID: PMC5549507

Genes

ADCY5

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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