Title |
Choroid plexus failure in the Kearns-Sayre syndrome
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Published in |
Fluids and Barriers of the CNS, August 2010
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DOI | 10.1186/1743-8454-7-14 |
Pubmed ID | |
Authors |
Reynold Spector, Conrad E Johanson |
Abstract |
The Kearns-Sayre syndrome is a mitochondrial disorder (generally due to mitochondrial DNA deletions) that causes ophthalmoplegia, retinopathy, ataxia and brain abnormalities such as leukoencephalopathy. In this syndrome, the choroid plexus epithelial cells, unlike brain cells, are greatly enlarged and granular, consistent with their inability to adequately transport folate from blood into cerebrospinal fluid (CSF), and homovanillic acid (a dopamine metabolite) from CSF into blood. This inability to transport folates from blood into CSF (and brain) adequately, causes cerebral folate deficiency that can be partially reversed by very high doses of reduced folates. The Kearns-Sayre syndrome is a disease that interferes with key choroid plexus functions and is a cause of generalized choroid plexus failure. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
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Portugal | 1 | 4% |
Unknown | 22 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Professor > Associate Professor | 3 | 13% |
Student > Bachelor | 2 | 9% |
Professor | 2 | 9% |
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Other | 3 | 13% |
Unknown | 7 | 30% |
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Other | 1 | 4% |
Unknown | 7 | 30% |