Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations

Mov Disord Clin Pract. 2024 Aug;11(8):1047-1048. doi: 10.1002/mdc3.14124. Epub 2024 Jun 8.

Luca Magistrelli^{1

2}, Elena Contaldi^{1

2}, Beatrice Piola³, Fjorilda Caushi³, Miryam Carecchio⁴, Sandra D'Alfonso³, Lucia Corrado³

¹ Movement Disorders Centre, Neurology Unit, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.
² Parkinson Institute Milan, ASST G.Pini-CTO, Milan, Italy.
³ Department of Health Sciences, Centre of Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale, Novara, Italy.
⁴ Parkinson and Movement Disorders Unit, Center for Rare Neurological Diseases (ERN-RND), Study Center On Neurodegeneration (CESNE), Department of Neuroscience, University of Padua, Padua, Italy.

No abstract available

Keywords: GNAL mutation; cognitive disability; generalized dystonia; pediatric dystonia.

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