Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease

Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by <i>GFAP</i> mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration, progressive quadriparesis,...

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Bibliographic Details
Main Authors: Justyna Paprocka, Magdalena Nowak, Magdalena Machnikowska-Sokołowska, Karolina Rutkowska, Rafał Płoski
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Genes
Subjects:
Alexander disease
neonatal type
refractory epilepsy
leukodystrophy
severe hyponatremia
Online Access:https://www.mdpi.com/2073-4425/15/3/350

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