ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.

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

SUBMITTER: Innocenti A 

PROVIDER: S-EPMC12625108 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature