Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease).
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DOI：
10.1016/j.neuint.2009.07.012
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发表时间：
2009-12
影响因子：
4.2
通讯作者：
Palmer, David N.
中科院分区：
文献类型：
--
作者：
Kay, Graham W.;Verbeek, Marcel M.;Furlong, Julie M.;Willemsen, Michel A. A. P.;Palmer, David N.
关键词：
神经肽和神经活性氨基酸的异常被认为在多种疾病的神经退行性变中起作用，包括遗传性神经元类脂褐变（NCLs， Batten病）。这些通常是通过脑脊液（CSF）浓度变化来指示的。在这里，我们比较了典型幼年CLN3型NCL患者和典型晚期婴儿CLN2型NCL患者脑脊液中神经肽和神经活性氨基酸浓度与晚期婴儿变异型CLN6型绵羊脑脊液中的神经肽和神经活性氨基酸浓度。在幼年CLN3患者中发现了脑脊液神经元特异性烯醇化酶和tau蛋白浓度的明显疾病相关升高，但在晚期CLN2患者和CLN6患者中未观察到这种情况。患者的S-100b、GFAP或MBP没有变化，绵羊的S-100b、GFAP或IGF-1也没有变化。这些羊脑脊液中神经活性氨基酸、天冬氨酸、谷氨酸、丝氨酸、谷氨酰胺、甘氨酸、牛磺酸和GABA的浓度没有疾病相关的变化。在CLN3患者中观察到的变化可能是神经退行性变的进行性标志，或者是潜在的代谢变化，可能与CLN3特异性神经活性氨基酸的变化有关，正如人们所假设的那样。CLN2和CLN6受试者中缺乏变化表明这些变化不为CLN2或CLN6形式所共享，并且这些化合物的CSF浓度变化作为ncl神经退行性变的生物标志物通常是不可靠的。
Anomalies in neuropeptides and neuroactive amino acids have been postulated to play a role in neurodegeneration in a variety of diseases including the inherited neuronal ceroid lipofuscinoses (NCLs, Batten disease). These are often indicated by concentration changes in cerebrospinal fluid (CSF). Here we compare CSF neuropeptide concentrations in patients with the classical juvenile CLN3 form of NCL and the classical late infantile CLN2 form with neuropeptide and neuroactive amino acid concentrations in CSF from in sheep with the late infantile variant CLN6 form. A marked disease related increase in CSF concentrations of neuron specific enolase and tau protein was noted in the juvenile CLN3 patients but this was not observed in an advanced CLN2 patient nor CLN6 affected sheep. No changes were noted in S-100b, GFAP or MBP in patients or of S-100b, GFAP or IGF-1 in affected sheep. There were no disease related changes in CSF concentrations of the neuroactive amino acids, aspartate, glutamate, serine, glutamine, glycine, taurine and GABA in these sheep. The changes observed in the CLN3 patients may be progressive markers of neurodegeneration, or of underlying metabolic changes perhaps associated with CLN3 specific changes in neuroactive amino acids, as have been postulated. The lack of changes in the CLN2 and CLN6 subjects indicate that these changes are not shared by the CLN2 or CLN6 forms and changes in CSF concentrations of these compounds are unreliable as biomarkers of neurodegeneration in the NCLs in general.
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影响因子：
4.7
作者：
Broughton, Sarah K.;Chen, Hanqin;Back, Stephen A.
通讯作者：
Back, Stephen A.
DOI：
10.1016/j.bbadis.2006.08.002
发表时间：
2006-10-01
影响因子：
6.2
作者：
Cooper, Jonathan D.;Russell, Claire;Mitchison, Hannah M.
通讯作者：
Mitchison, Hannah M.
DOI：
10.1016/j.bbrc.2004.12.038
发表时间：
2005-02-11
影响因子：
3.1
作者：
Katz, ML;Khan, S;Johnson, GS
通讯作者：
Johnson, GS
影响因子：
11
作者：
CORSTON, RN;MCGALE, EHF;ABER, GM
通讯作者：
ABER, GM
影响因子：
2.9
作者：
Fujii, EY;Kozuki, M;Murata, Y
通讯作者：
Murata, Y