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Related Experiment Video

Updated: Aug 28, 2025

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ADCY5 gene mutation: a case report.

Didem Tezen1, Aysegul Gunduz2, Meral Erdemir Kiziltan2

  • 1Department of Neurology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Kocamustafapaşa Caddesi, 34098, Istanbul, Turkey. didem.tezen@iuc.edu.tr.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|September 16, 2022
PubMed
Summary

A rare ADCY5 mutation caused a young girl's hyperkinetic movement disorder. Genetic testing confirmed the mutation, highlighting a need for better understanding and treatment options for this condition.

Keywords:
ADCY5DyskinesiaMyoclonus and dystoniaNeurogenetic

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Area of Science:

  • Genetics
  • Neurology

Background:

  • Adenylate cyclase 5 (ADCY5) mutations are infrequently documented.
  • These mutations are associated with hyperkinetic movement disorders.
  • The condition can manifest sporadically or within families.

Observation:

  • A 5-year-old girl presented with early-onset involuntary movements.
  • Her symptoms included hypotonia and worsening movements post-sleep.
  • She exhibited resistance to multiple pharmacological treatments.

Findings:

  • Standard neurological assessments, including EEG and MRI, were unremarkable.
  • Metabolic screening yielded normal results.
  • Whole exome sequencing identified an ADCY5 mutation in the patient, with no reported family history.

Implications:

  • This case expands the clinical description of ADCY5-related movement disorders.
  • Identifying the genetic basis is crucial for understanding disease mechanisms.
  • Further research into ADCY5 gene function may reveal novel therapeutic targets.