Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant

Nikolai Gil D. Reyes, Daniel G. Di Luca, Vanda McNiven, Anthony E. Lang

Research output: Contribution to journalLetterpeer-review

Abstract

GNB1 encephalopathy (OMIM: 616973), caused by pathogenic variants in the GNB1 gene, is a rare neurodevelopmental syndrome characterized by global developmental delay (GDD) variably co-occurring with movement disorders. For the latter, dystonia, although the most frequent, remains uncommon. Other phenomenologies including myoclonus, tics, chorea, and ataxia, as well as oculomotor abnormalities are rare [1]. Most pathogenic variants in GNBI occur in exons 6 and 7, which are considered to be mutational hotspots [2]. Here, we report a case of GNB1 encephalopathy arising from a de novo mutation in a gene region with few reported pathogenic variants (i.e., exon 11) presenting with a unique phenotype consisting of dystonia with myoclonus and vertical supranuclear gaze palsy.

Original languageEnglish
Article number105239
JournalParkinsonism and Related Disorders
Volume106
DOIs
StatePublished - Jan 2023

Keywords

  • Dystonia
  • GNB1
  • GNB1 encephalopathy
  • Myoclonus
  • Vertical supranuclear gaze palsy

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