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A Recurrent
Julia Macintosh1,2, Isabelle Thiffault3,4,5, Tomi Pastinen3,4,6
1Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
Abstract:
De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.
Insights
New research identifies de novo variants in the EIF2AK2 gene as a cause of leukoencephalopathy. This genetic condition presents in infancy with symptoms similar to Pelizaeus-Merzbacher disease (PMD).
Area of Science:
- Neurogenetics
- Molecular Genetics
- Developmental Neuroscience
Background:
- Leukoencephalopathies are a group of brain disorders characterized by abnormalities in the white matter.
- Pelizaeus-Merzbacher disease (PMD) is a rare, inherited neurological disorder that affects myelin in the brain.
- Recent studies have implicated de novo pathogenic variants in EIF2AK2 as a potential cause of leukoencephalopathy.
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