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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Hlavní autoři:	Carmela Romano, Emanuele Morena, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Marco Salvetti, Silvia Romano, Giovanni Ristori
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2024-03-01
Edice:	Frontiers in Neurology
Témata:	Alexander disease leukodystrophy GFAP mutation astrocytes ataxia
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fneur.2024.1362013/full
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