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Article

ADCY5-related dyskinesia - case series with literature review.

Neurologia i neurochirurgia polska - 1 Jan 2024

Kozon Katarzyna, Łysikowska Weronika, Olszewski Jakub, Milanowski Łukasz, Figura Monika, Mazurczak Tomasz, Hoffman-Zacharska Dorota, Koziorowski Dariusz

Abstract excerpt

INTRODUCTION: ADCY5-related dyskinesia is a rare neurological disease caused by mutations in the gene encoding the adenylyl cyclase 5 (ADCY5) isoform, a protein that plays an important role in intracellular transmission. Variants in ADCY5 are associated with a spectrum of neurological disease encompassing dyskinesia, chorea, and dystonia. State of the-art. ADCY5 mutations result in clinically heterogeneous...

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Identifiers

PMID: 38230756
DOI: 10.5603/pjnns.97024

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