16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency

Amaia Lasa-Aranzasti; Ana Cazurro-Gutiérrez; Agustín Bescós; Victoria González; Lourdes Ispierto; Manel Tardáguila; Irene Valenzuela; Alberto Plaja; Antonio Moreno-Galdó; Alfons Macaya-Ruiz; Belen Pérez-Dueñas

doi:10.1016/j.parkreldis.2022.08.032

16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency

Parkinsonism Relat Disord. 2022 Oct:103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7.

Affiliations

¹ Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain; Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain.
² Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain.
³ Pediatric Neuromodulation Unit, Hospital Vall d'Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain; Department of Neurosurgery, Vall d'Hebron University Hospital, Barcelona, Spain.
⁴ Pediatric Neuromodulation Unit, Hospital Vall d'Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain; Department of Neurology, Department of Neurology, Vall Hebron University Hospital Barcelona, Spain.
⁵ Pediatric Neuromodulation Unit, Hospital Vall d'Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain; Neurodegenerative Diseases Unit, Neurology Service and Neurosciences Department, University Hospital Germans Trias i Pujol, Barcelona, Spain.
⁶ Pediatric Neuromodulation Unit, Hospital Vall d'Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain; Department of Neurological Surgery, University Hospital Germans Trias i Pujol, Barcelona, Spain.
⁷ Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.
⁸ Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain.
⁹ Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain.
¹⁰ Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain; Pediatric Neuromodulation Unit, Hospital Vall d'Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain; CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain. Electronic address: belen.perez@vhir.org.

PMID: 36096018
DOI: 10.1016/j.parkreldis.2022.08.032

No abstract available

Keywords: Children; Deep brain stimulation; Dystonia; GNAO1; GPi; Pallidal stimulation.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Deep Brain Stimulation* / adverse effects
Dystonia* / genetics
Dystonia* / therapy
Dystonic Disorders* / therapy
GTP-Binding Protein alpha Subunits, Gi-Go / genetics
Globus Pallidus
Haploinsufficiency / genetics
Humans
Treatment Outcome

Substances

GNAO1 protein, human
GTP-Binding Protein alpha Subunits, Gi-Go