1The past decade has witnessed a burst of speculation and data about how astrocyte
dysfunction contributes to the phenotypes of the well known neurodegenerative diseases …

Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized
pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary …

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 …

Background Alexander disease (ALX) is a rare neurological disorder characterized by white
matter degeneration and cytoplasmic inclusions in astrocytes called Rosenthal fibers …

Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by
heterozygous mutations in the glial fibrillary acid protein (GFAP) gene. The age of symptoms …

This volume documents the multiple roles astrocytes perform in the normal develo pment
and function of the central nervous system (CNS). A nagging question has been that if these …

A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with
adult‐onset Alexander disease. This is the oldest reported case with confirmation of a GFAP …

Yoshida T, Sasayama H, Mizuta I, Okamoto Y, Yoshida M, Riku Y, Hayashi Y, Yonezu T,
Takata Y, Ohnari K, Okuda S, Aiba I, Nakagawa M. Glial fibrillary acidic protein mutations in …

Background Alexander disease, an autosomal dominant leukodystrophy, is caused by
missense mutations in GFAP. Although mostly diagnosed in children, associated with severe …

Abstract Alexander Disease (AxD) is a rare leukodystrophy caused by missense mutations
of glial fibrillary acidic protein (GFAP). Primarily seen in infants and juveniles, it can present …