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ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed

Alice Innocenti1, Emmanuel Roze2,3, Florence Riant4

  • 1Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy.

Movement Disorders Clinical Practice
|June 12, 2025
PubMed
Abstract

Insights

ADCY5-mosaic variants can present with milder symptoms than typical ADCY5 disorders, including paroxysmal dyskinesias. Early identification is key, as mosaicism may be overlooked in genetic testing.

Area of Science:

  • Neurogenetics
  • Movement Disorders

Background:

  • ADCY5-mosaicism is increasingly identified, often with milder phenotypes.
  • Limited data exists on the detailed clinical characteristics of these patients.

Observation:

  • A study analyzed 12 ADCY5-mosaic patients and 7 literature cases.
  • 63% had hyperkinetic motor disorder with exacerbations; 30% had isolated paroxysmal dyskinesias (PxD).
  • 70% of PxD cases initially presented in infancy.

Findings:

  • Caffeine treatment showed high efficacy in affected patients.
  • Developmental delay occurred in 5 patients, particularly those with persistent motor symptoms.
  • ADCY5-mosaic carriers may exhibit a similar spectrum to non-mosaic carriers but with reduced severity.

Implications:

  • Isolated PxD in infancy is a significant indicator for ADCY5-mosaic variants.
  • Genetic analysis requires careful consideration of mosaicism, which can be easily missed.
  • Recognizing milder ADCY5-mosaic phenotypes aids in diagnosis and management.
Keywords:
ADCY5‐mosaicmixed movement disorder ADCY5 (MxMD‐ADCY5)paroxysmal dyskinesias (PxD)

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