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Case Reports
. 2025 Jun 12.
doi: 10.1002/mdc3.70175. Online ahead of print.

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed

Alice Innocenti  1 , Emmanuel Roze  2   3 , Florence Riant  4 , Marie-Céline François-Heude  5 , Bérénice Lecardonnel  5 , Giacomo Garone  1 , Maxime Colmard  5 , Eline Chauvet-Piat  5 , Anne-Cécile Chaux  6 , Marie-Aude Spitz  7 , Beatrice Desnous  8 , Catherine Sarret  9 , Philippe Damier  10 , Thomas Wirth  11   12   13 , Mathieu Anheim  11   12   13 , Emilie Retailleau  3 , Estelle Conabady  3 , Caroline Dubacq  3 , Oriane Trouillard  3   14 , Aurélie Méneret  2   3 , Agathe Roubertie  5   15
Affiliations
Case Reports

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed

Alice Innocenti et al. Mov Disord Clin Pract. .

Abstract

Background: An increasing number of ADCY5-mosaic patients, seemingly with a milder phenotype, are being identified. However, an in-depth assessment of their clinical characteristics is lacking.

Cases: We collected and analyzed data from 12 consecutive ADCY5-mosaic patients diagnosed at our center and 7 cases from the literature; 63% of the patients presented with a baseline hyperkinetic motor disorder with paroxysmal motor exacerbations; 30% had isolated paroxysmal dyskinesias (PxD). Caffeine treatment was highly effective. Developmental delay was observed in 5 patients and especially in those with persistent motor symptoms. PxD were the initial motor symptom in 70% of cases.

Conclusions: ADCY5-mosaic carriers may have the same phenotypic spectrum as non-mosaic carriers but with a milder clinical presentation. Isolated PxD with onset in infancy are a red flag for ADCY5-mosaic variants. Particular attention should be paid when genetic analysis of patients with this phenotype is conducted as mosaicism can be easily missed.

Keywords: ADCY5‐mosaic; mixed movement disorder ADCY5 (MxMD‐ADCY5); paroxysmal dyskinesias (PxD).

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References

    1. Friedman JR, Méneret A, Chen D‐H, Trouillard O, Vidailhet M, Raskind WH, Roze E. ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. Mov Disord 2016;31:147–148.
    1. Delorme C, Giron C, Bendetowicz D, Méneret A, Mariani L‐L, Roze E. Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders. Expert Rev Neurother 2021;21:81–97.
    1. Menon PJ, Nilles C, Silveira‐Moriyama L, et al. Scoping review on ADCY5‐related movement disorders. Mov Disord Clin Pract 2023;10:1048–1059.
    1. Chen D‐H, Méneret A, Friedman JR, et al. ADCY5‐related dyskinesia: broader spectrum and genotype‐phenotype correlations. Neurology 2015;85:2026–2035.
    1. Méneret A, Mohammad SS, Cif L, et al. Efficacy of caffeine in ADCY5‐related dyskinesia: a retrospective study. Mov Disord 2022;37:1294–1298.

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