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Neurology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Fenella Kirkham, Adnan Manzur, Stephanie Robb
Degenerative (Fig. 8.69): Alexander disease.Canavan disease (N-acetylaspartic aciduria).
Genetic diseases mimicking multiple sclerosis
Published in Postgraduate Medicine, 2021
Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu, Wojciech Kozubski
Alexander disease (AD), a neurodegenerative disease characterized not only by the destruction of the myelin sheath but also deposits of an abnormal protein called Rosenthal fibers. The disease is caused by a mutation in the GFAP gene, which encodes glial fibrillary acidic protein (GFAP). Mutation in the GFAP gene leads to the production of malfunctioned GFAP, which fails to support and maintain cells like astrocytes as an intermediate filament, and further impairs oligodendrocytes and neurons [116]. Similar to other leukodystrophies mentioned above, AD shows variable clinical presentations depending on the age of onset. Four sub-entities have been classified, namely the neonatal, infantile, juvenile and adult form, with neonatal being the most fatal and adult form being the mildest [117]. The diagnosis of AD in children can be based on typical clinical presentation and MRI features. However, genetic testing of mutation in GFAP genes should be conducted to confirm the diagnosis in adults [117].
Alexander’s disease and the story of Louise*
Published in Neuropsychological Rehabilitation, 2018
Barbara A. Wilson, Faraneh Vargha-Khadem, Gerhard Florschutz
The disease is inherited in an autosomal dominant pattern. The affected gene is the glial fibrillary acidic protein or GFAP gene (Genetic Home Reference, 2015). The following quotation is from the same source. Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the production of a structurally altered glial fibrillary acidic protein. The altered protein is thought to impair the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein likely accumulates in astroglial cells, leading to the formation of Rosenthal fibres, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal formation or maintenance of myelin, leading to the signs and symptoms of Alexander disease.
Developmental Profiles in Children and Young Adults with Alexander Disease
Published in Developmental Neurorehabilitation, 2023
Laura Zampini, Lara Draghi, Paola Zanchi
Alexander disease (AxD) is a rare leukodystrophy caused by dominant variants in the Glial Fibrillary Acidic Protein (GFAP) gene.1 The estimated prevalence is one case per 2.7 million individuals.2 Four clinical subtypes of AxD have been identified based on the age at symptoms onset: neonatal form (with onset within 30 days from birth), infantile form (with onset before two years of age), juvenile form (with onset between 2 and 12 years of age), and adult form (with onset after 12 years of age).3–6