Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

Alexander disease (AxD) is a rare inherited autosomal dominant (AD) disease with different clinical phenotypes according to the age of onset. It is caused by mutations in the glial fibrillary acid protein (GFAP) gene, which causes GFAP accumulation in astrocytes. A wide spectrum of mutations has bee...

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Bibliographic Details
Main Authors: Carmela Romano, Emanuele Morena, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Marco Salvetti, Silvia Romano, Giovanni Ristori
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Neurology
Subjects:
Alexander disease
leukodystrophy
GFAP mutation
astrocytes
ataxia
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1362013/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2024.1362013/full

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