Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects

Aleksandra Jezela-Stanek; Hanna Mierzewska; Elżbieta Szczepanik

doi:10.1016/j.clineuro.2020.106033

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects

Clin Neurol Neurosurg. 2020 Sep:196:106033. doi: 10.1016/j.clineuro.2020.106033. Epub 2020 Jun 18.

Authors

Aleksandra Jezela-Stanek¹, Hanna Mierzewska², Elżbieta Szczepanik²

Affiliations

¹ Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. Electronic address: jezela@gmail.com.
² Clinic of Paediatric Neurology, Institute of Mother and Child, Warsaw, Poland.

PMID: 32585529
DOI: 10.1016/j.clineuro.2020.106033

Abstract

Vertical nystagmus is a known clinical feature, is however rarely observed in a specific neurodevelopmental disorder. Based on our experience with Polish patients with glycosylphosphatidylinositol biosynthesis defects (GPIBD) due to PIGN variants, supported by literature review, we have verified the clinical significance of this feature in PIGN-related disorder. We hope to underline the clinical implication of vertical nystagmus in the evaluation of patients with developmental encephalopathy with epilepsy, which may accelerate the neurological diagnosis process by orientating it towards PIGN-GPIBD.

Keywords: Developmental encephalopathy with epilepsy; PIGN gene; Vertical nystagmus.

Publication types

Case Reports
Review

MeSH terms

Brain Diseases, Metabolic / genetics*
Child
Child, Preschool
Epilepsy / genetics
Female
Glycosylphosphatidylinositols / biosynthesis
Glycosylphosphatidylinositols / genetics
Humans
Male
Mutation
Nystagmus, Pathologic / genetics*
Phosphotransferases / genetics*

Substances

Glycosylphosphatidylinositols
PIGN protein, human
Phosphotransferases