Article
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Molecular genetics and metabolism - 1 Dec 2021
Mura Eleonora, Nicita Francesco, Masnada Silvia, Battini Roberta, Ticci Chiara, Montomoli Martino, Berardinelli Angela, Pantaleoni Chiara, Ardissone Anna, Foiadelli Thomas, Tartara Elena, Salsano Ettore, Veggiotti Pierangelo, Ceccherini Isabella, Moroni Isabella, Bertini Enrico, Tonduti Davide
Abstract excerpt
Alexander disease (AxD) is a leukodystrophy that primarily affects astrocytes and is caused by dominant variants in the Glial Fibrillary Acidic Protein gene. Three main classifications are currently used, the traditional one defined by the age of onset, and two more recent ones based on both clinical features at onset and brain MRI findings. In this study, we retrospectively included patients with genetically...
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