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Type I Alexander disease: Update and validation of the clinical evolution-based classification

Ylenia Vaia1, Eleonora Mura1, Davide Tonduti2

  • 1Unit of Pediatric Neurology, C.O.A.L.A (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Via Castelvetro 32, 20154 Milan, Italy; University of Milan, Via Festa del Perdono, 7, 20122 Milan, Italy.

Molecular Genetics and Metabolism
|February 22, 2023
PubMed
Summary

This study refines Alexander disease (AxD) classification by analyzing pediatric cases. It identifies four subgroups within Type I AxD based on disease progression, improving understanding of this rare leukodystrophy.

Keywords:
Alexander diseaseAstrocytopathyGFAPLeukodystrophy

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