Abstract
Background: Alexander disease (AxD) is a fatal neurological disorder characterized by macrocephaly, leukodystrophy and a variety of developmental delays with epileptic seizures, dysphagia, or bulbar signs. The common neuropathological feature of AxD is the presence of Rosenthal fibers, a unique cytoplasmic inclusion within astrocytes. Rosenthal fibers contain glial fibrillary acidic protein (GFAP), major astrocytic intermediate filament protein and molecular chaperones, including alpha-B-crystallin and other heat shock proteins.
Highlights
Alexander disease (AxD) was first described by W
Primary cultures of somatic cells from all six individuals were independently reprogrammed to induced pluripotent stem cells (iPSCs), as judged by colony morphology, similar to human embryonic stem cells (ESCs), growth dynamics, and sustained longterm passaging (>20 passages) (Fig. 1a)
All iPSC lines spontaneously differentiated into cell types of the three embryonic germ layers as indicated by expression of the specific markers, including TUJ1, αSMA, and
Summary
Alexander disease (AxD) was first described by W. The clinical phenotypes of AxD are macrocephaly, frontal leukodystrophy and a variety of developmental delays with epileptic seizures, dysphagia, or bulbar/pseudobulbar signs. The severity of these clinical features differs among patients, being mostly dependent on the age of onset [2]. The common neuropathological feature of AxD is the presence of Rosenthal fibers, a unique cytoplasmic inclusion within astrocytes. Rosenthal fibers contain glial fibrillary acidic protein (GFAP), major astrocytic intermediate filament protein and molecular chaperones, including alpha-B-crystallin and other heat shock proteins [3, 4]. Missense mutations in GFAP have been identified as a genetic basis for AxD [5].
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