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GNAO1 mutation presenting as dyskinetic cerebral palsy

  • Maria João MalaquiasEmail author
  • Isabel Fineza
  • Leal Loureiro
  • Luís Cardoso
  • Isabel Alonso
  • Marina Magalhães
Letter to the Editor
  • 16 Downloads

Introduction

GNAO1 mutations, described in early-onset epileptic encephalopathies, have been recently (since 2013) linked to hyperkinetic movement disorders with developmental delay. The growing number of recognized cases allowed for the identification of a genotype-phenotype correlation with diagnostic and prognostic importance. The resistance of the disease to pharmacological management sets deep brain stimulation as a relevant therapeutic option [1].

Case report

The patient is an 18-year-old girl, who was the only child of a healthy non-consanguineous couple. Her family history included two relatives on the father’s side with cognitive delay that were wheelchair-bound and suffered premature death (before the 20s). Following an unremarkable pregnancy, she was born at term, after an induced delivery due to metrorrhagia. Her perinatal period was uneventful.

Axial hypotonia and an abnormal posture of the left hand became evident at age of 6 months. Gradually, the patient developed a...

Notes

Authors’ roles

(1) Research project: A. Conception, B. Organization, C. Execution

(2) Manuscript: A. Writing of the first draft, B. Review and Critique

MJM: 1A, 1B, 1C, 2A

IF: 2B

LL: 2B

LC: 1C, 2B

IA: 2B

MM: 1A, 1B, 2B

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  1. 1.Department of NeurologyCentro Hospitalar do PortoPortoPortugal
  2. 2.Department of Pediatric Neurology, Hospital PediátricoCentro Hospitalar e Universitário de CoimbraCoimbraPortugal
  3. 3.Department of NeurologyCentro Hospitalar de Entre o Douro e VougaSanta Maria da FeiraPortugal
  4. 4.Department of NeuroradiologyCentro Hospitalar do PortoPortoPortugal
  5. 5.UnIGENe, Institute for Molecular and Cell Biology (IBMC), Center for Predictive and Preventive Genetics (CGPP)Universidade do PortoPortoPortugal

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