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This book offers a comprehensive overview of Alexander disease, a
rare and devastating neurological disorder that often affects the
white matter of the brain and spinal cord. Its distinctive
neuropathology consists of abundant Rosenthal fibers within
astrocytes (one of the four major cell types of the central nervous
system). Nearly all cases are caused by variants in the gene
encoding the intermediate filament protein GFAP, but how these
changes in GFAP lead to the widespread manifestations of disease is
poorly understood. Astrocytes, while discovered over a century ago,
are themselves still much of a mystery. They exhibit considerable
diversity, defy precise definition, and yet actively regulate many
aspects of nervous system functioning. We also have incomplete
understanding of Rosenthal fibers, odd structures that contain GFAP
as just one of many components. Whether they are toxic or
protective is unknown. Moreover, Rosenthal fibers are not
absolutely unique to Alexander disease, and are seen sporadically
in a wide variety of other conditions, including brain tumors and
multiple sclerosis. GFAP is the third unknown. It is an ancient
protein, arising early in the evolution of vertebrates, but its
role in normal biology is still a matter of debate. Yet Alexander
disease shows, without a doubt, that changing just a single of its
432 amino acids can lead to catastrophe, not just in the astrocytes
where GFAP is produced but also in the other cells with which
astrocytes interact. Despite all of the unknowns, much has been
learned in the past 20 years, and it is time to share this
knowledge. This book is intended for recently diagnosed patients
and families, as well as non-specialist researchers interested in
this neurological disease. It covers historical origins, the state
of current knowledge, and prospects for what lies ahead, with
citations to the primary literature given throughout.
This book offers a comprehensive overview of Alexander disease, a
rare and devastating neurological disorder that often affects the
white matter of the brain and spinal cord. Its distinctive
neuropathology consists of abundant Rosenthal fibers within
astrocytes (one of the four major cell types of the central nervous
system). Nearly all cases are caused by variants in the gene
encoding the intermediate filament protein GFAP, but how these
changes in GFAP lead to the widespread manifestations of disease is
poorly understood. Astrocytes, while discovered over a century ago,
are themselves still much of a mystery. They exhibit considerable
diversity, defy precise definition, and yet actively regulate many
aspects of nervous system functioning. We also have incomplete
understanding of Rosenthal fibers, odd structures that contain GFAP
as just one of many components. Whether they are toxic or
protective is unknown. Moreover, Rosenthal fibers are not
absolutely unique to Alexander disease, and are seen sporadically
in a wide variety of other conditions, including brain tumors and
multiple sclerosis. GFAP is the third unknown. It is an ancient
protein, arising early in the evolution of vertebrates, but its
role in normal biology is still a matter of debate. Yet Alexander
disease shows, without a doubt, that changing just a single of its
432 amino acids can lead to catastrophe, not just in the astrocytes
where GFAP is produced but also in the other cells with which
astrocytes interact. Despite all of the unknowns, much has been
learned in the past 20 years, and it is time to share this
knowledge. This book is intended for recently diagnosed patients
and families, as well as non-specialist researchers interested in
this neurological disease. It covers historical origins, the state
of current knowledge, and prospects for what lies ahead, with
citations to the primary literature given throughout.
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