Movement disorders clinical practice · 2025
ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Innocenti Alice, Roze Emmanuel, Riant Florence, François-Heude Marie-Céline, Lecardonnel Bérénice, Garone Giacomo, Colmard Maxime, Chauvet-Piat Eline, Chaux Anne-Cécile, Spitz Marie-Aude, Desnous Beatrice, Sarret Catherine, Damier Philippe, Wirth Thomas, Anheim Mathieu, Retailleau Emilie, Conabady Estelle, Dubacq Caroline, Trouillard Oriane, Méneret Aurélie, Roubertie Agathe
Аннотация
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.
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.