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.
journal_name
Neurobiol Disjournal_title
Neurobiology of diseaseauthors
Prohaska R,Sibon OC,Rudnicki DD,Danek A,Hayflick SJ,Verhaag EM,Vonk JJ,Margolis RL,Walker RHdoi
10.1016/j.nbd.2012.03.006subject
Has Abstractpub_date
2012-06-01 00:00:00pages
607-24issue
3eissn
0969-9961issn
1095-953Xpii
S0969-9961(12)00077-0journal_volume
46pub_type
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journal_title:Neurobiology of disease
pub_type: 杂志文章
doi:10.1016/j.nbd.2007.03.014
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