期刊
MITOCHONDRION
卷 10, 期 5, 页码 429-432出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.mito.2010.04.001
关键词
Biogenic amines; Dopamine; Folate; Kearns-Sayre syndrome; Mitochondrial diseases
资金
- Instituto de Salud Carlos III (ISCIII), Ministry of Science and Innovation (MICIN), Spain [PI060547, PI080663, EC07/90095, EC007/90272, PI070548]
- Comunidad de Madrid (CM) [GEN-0269/2006]
- CIBERER
- Intensificacion de la Actividad Investigadora
- ISCIII-MICIN
- Agencia Lain Entralgo (CM)
We evaluated cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF), biogenic amines, and white matter status in six Kearns-Sayre syndrome (KSS) patients. They presented severe 5-MTHF deficiency. A significant negative correlation was observed between CSF 5-MTHF and protein concentration. CSF homovanillic acid was clearly high. Regarding neuroimaging, the main feature was hyperintensity in the basal ganglia, brainstem, and cerebral/cerebellar white matter. The severity of hemispheric white matter disturbances appeared to be qualitatively associated with 5-MTHF values. The negative correlation between 5-MTHF and proteins supports the hypothesis of impaired choroid plexus function. Interestingly, despite very low 5-MTHF, clearly high neurotransmitter metabolites were found. (C) 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据