Alexander disease (AD) is a rare neurodegenerative disorder characterized by
megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report …

Alexander disease (AxD) is a rare neurodegenerative disorder related to mutations in the
glial fibrillary acidic protein gene. We report the case of a child with disease onset at the age …

Alexander disease is a rare neurodegenerative leucoencephalopathy caused by de novo
mutations in the GFAP gene. Infantile, juvenile, and adult subtypes have been described …

We encountered a male infant with infantile Alexander disease presenting with
megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age …

Alexander disease is a rare neurodegenerative disorder. Its most frequent subtype, the
infantile form, is characterized by an early onset and a rapid neurological deterioration …

Alexander disease is a very rare congenital and untreatable white matter disease. It affects
the astroglia of the central nervous system exclusively and is characterized histologically by …

BACKGROUND AND PURPOSE: In recent years, the discovery that mutations in the glial
fibrillary acidic protein gene (GFAP) were responsible for Alexander disease (AD) brought …

We present a case of infantile-onset Alexander disease (AD) with a novel glial fibrillary
acidic protein mutation but without clinical evidence of neurologic deterioration. Brain MRI …

Alexander disease is a neurodegenerative disorder of the central white matter caused by
dominant mutations in GFAP, the gene encoding glial fibrillary acidic protein. Magnetic …

Background: Alexander disease is most commonly associated with macrocephaly and, on
MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation …