Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration

The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these set...

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Published inNeurobiology of disease Vol. 46; no. 3; pp. 607 - 624
Main Authors Prohaska, Rainer, Sibon, Ody C.M., Rudnicki, Dobrila D., Danek, Adrian, Hayflick, Susan J., Verhaag, Esther M., Vonk, Jan J., Margolis, Russell L., Walker, Ruth H.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.06.2012
Elsevier
Subjects
Animal models
Animals
Autophagy - physiology
Basal ganglia
Blood
Brain
Brain - pathology
Brain Chemistry - physiology
Cell membranes
Cognitive ability
Erythrocytes
Erythrocytes - physiology
Humans
Iron
Iron - blood
Iron - metabolism
Iron - physiology
Magnetic resonance imaging
Movement disorders
Mutation
NBIA
Nervous system
Neuroacanthocytosis
Neuroacanthocytosis - pathology
Neurodegeneration
Neurodegenerative Diseases - blood
Neurodegenerative Diseases - pathology
Neuroimaging
Neurology
NBIA
Iron
Neurodegeneration
Neuroacanthocytosis
Online AccessGet full text
ISSN0969-9961
1095-953X
1095-953X
DOI10.1016/j.nbd.2012.03.006

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Abstract The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.
AbstractList The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.
The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.
Abstract The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.
The terms aneuroacanthocytosisa (NA) and aneurodegeneration with brain iron accumulationa (NBIA) both refer to groups of genetically heterogeneous disorders, classified together due to similarities of their phenotypic or pathological findings. Even collectively, the disorders that comprise these sets are exceedingly rare and challenging to study. The NBIA disorders are defined by their appearance on brain magnetic resonance imaging, with iron deposition in the basal ganglia. Clinical features vary, but most include a movement disorder. New causative genes are being rapidly identified; however, the mechanisms by which mutations cause iron accumulation and neurodegeneration are not well understood. NA syndromes are also characterized by a progressive movement disorder, accompanied by cognitive and psychiatric features, resulting from mutations in a number of genes whose roles are also basically unknown. An overlapping feature of the two groups, NBIA and NA, is the occurrence of acanthocytes, spiky red cells with a poorly-understood membrane dysfunction. In this review we summarise recent developments in this field, specifically insights into cellular mechanisms and from animal models. Cell membrane research may shed light upon the significance of the erythrocyte abnormality, and upon possible connections between the two sets of disorders. Shared pathophysiologic mechanisms may lead to progress in the understanding of other types of neurodegeneration.
Author Danek, Adrian
Sibon, Ody C.M.
Prohaska, Rainer
Walker, Ruth H.
Verhaag, Esther M.
Hayflick, Susan J.
Vonk, Jan J.
Rudnicki, Dobrila D.
Margolis, Russell L.
AuthorAffiliation g Departments of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA and Mount Sinai School of Medicine, New York, NY USA
b Section of Radiation & Stress Cell Biology, Department of Cell Biology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
f Department of Neurology and Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
a Max F. Perutz Laboratories, Medical University of Vienna, Vienna, Austria
e Departments of Molecular & Medical Genetics, Pediatrics and Neurology, Oregon Health & Science University, Portland OR USA
c Department of Psychiatry, Division of Neurobiology, Laboratory of Genetic Neurobiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
d Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany
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Issue 3
Keywords NBIA
Iron
Neurodegeneration
Neuroacanthocytosis
Language English
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Snippet The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous disorders,...
Abstract The terms “neuroacanthocytosis” (NA) and “neurodegeneration with brain iron accumulation” (NBIA) both refer to groups of genetically heterogeneous...
The terms "neuroacanthocytosis" (NA) and "neurodegeneration with brain iron accumulation" (NBIA) both refer to groups of genetically heterogeneous disorders,...
The terms aneuroacanthocytosisa (NA) and aneurodegeneration with brain iron accumulationa (NBIA) both refer to groups of genetically heterogeneous disorders,...
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StartPage 607
SubjectTerms Animal models
Animals
Autophagy - physiology
Basal ganglia
Blood
Brain
Brain - pathology
Brain Chemistry - physiology
Cell membranes
Cognitive ability
Erythrocytes
Erythrocytes - physiology
Humans
Iron
Iron - blood
Iron - metabolism
Iron - physiology
Magnetic resonance imaging
Movement disorders
Mutation
NBIA
Nervous system
Neuroacanthocytosis
Neuroacanthocytosis - pathology
Neurodegeneration
Neurodegenerative Diseases - blood
Neurodegenerative Diseases - pathology
Neuroimaging
Neurology
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Title Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration
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