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Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease

Journal article
Authors Tulen Pekny
Maryam Faiz
Ulrika Wilhelmsson
Maurice A Curtis
R. Matej
Omar Skalli
Milos Pekny
Published in Acta Pathologica, Microbiologica et Immunologica Scandinavica
Volume 122
Issue 1
Pages 76-80
ISSN 0903-4641
Publication year 2014
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Pages 76-80
Language en
Keywords Alexander disease, Astrocytes, GFAP, Intermediate filaments, Neurodegenerative diseases, alpha crystallin, beta crystallin, glial fibrillary acidic protein, heat shock protein 27, peptides and proteins, synemin, unclassified drug, actin filament, article, astrocyte, case report, child, female, fiber, gliosis, human, infant, preschool child, priority journal, protein expression, rosenthal fiber, school child
Subject categories Neurosciences


Alexander disease (AxD) is a neurodegenerative disorder with prominent white matter degeneration and the presence of Rosenthal fibers containing aggregates of glial fibrillary acidic protein (GFAP), and small stress proteins HSP27 and αB-crystallin, and widespread reactive gliosis. AxD is caused by mutations in GFAP, the main astrocyte intermediate filament protein. We previously showed that intermediate filament protein synemin is upregulated in reactive astrocytes after neurotrauma. Here, we examined immunohistochemically the presence of synemin in reactive astrocytes and Rosenthal fibers in two patients with AxD. There was an abundance of GFAP-positive Rosenthal fibers and widespread reactive gliosis in the white matter and subpial regions. Many of the GFAP-positive reactive astrocytes were positive for synemin, and synemin was also present in Rosenthal fibers. We show that synemin is expressed in reactive astrocytes in AxD, and is also present in Rosenthal fibers. The potential role of synemin in AxD pathogenesis remains to be investigated. © 2013 APMIS Published by Blackwell Publishing Ltd.

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