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首页> 外文期刊>Journal of Neurology Research >A Case of Homozygous Disruption of P450 Side-Chain Cleavage ( CYP11A1 ): Cerebral MRI and CSF Neurotransmitter Findings
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A Case of Homozygous Disruption of P450 Side-Chain Cleavage ( CYP11A1 ): Cerebral MRI and CSF Neurotransmitter Findings

机译：P450侧链切割（CYP11A1）纯合破坏的一例：脑MRI和CSF神经递质的发现。

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Mitochondrial cytochrome P450 side-chain cleavage enzyme (P450scc, CYP11A1) is the initiating enzyme of steroidogenesis and converts cholesterol to pregnenolone. Here we describe neurological, cerebral magnetic resonance imaging (MRI), and cerebrospinal fluid (CSF) findings in a patient with a homozygous disruption of P450scc. Free γ-aminobutyric acid (GABA) and glutamate levels were measured in the patient’s CSF and control samples from 10 subjects by mean of high performance liquid chromatography with electrochemical detection. In the CSF, patient’s free GABA levels were significantly reduced in comparison to control values. Cerebral MRI revealed multiple supratentorial located T2 lesions in the periventricular and peritrigonal white matter without gadolinium enhancement or diffusion restriction of lesions. Both MRI and CSF neurotransmitter findings in our patient with P450scc deficiency were comparable to those found in multiple sclerosis.J Neurol Res. 2018;8(1-2):13-15doi: https://doi.org/10.14740/jnr467w.
机译：线粒体细胞色素P450侧链裂解酶（P450scc，CYP11A1）是类固醇生成的起始酶，可将胆固醇转化为孕烯醇酮。在这里，我们描述了P450scc纯合破坏患者的神经，脑磁共振成像（MRI）和脑脊液（CSF）发现。通过高效液相色谱和电化学检测，从10位受试者的患者的CSF和对照样品中测量了游离γ-氨基丁酸（GABA）和谷氨酸的水平。与对照组相比，脑脊液中患者的游离GABA水平明显降低。脑MRI显示在脑室周围和三角周围的白质中有多个位于幕上的T2病变，而g没有增强或没有病变扩散限制。在我们的P450scc缺乏症患者中MRI和CSF神经递质的发现与多发性硬化症中发现的是可比的。 2018; 8（1-2）：13-15doi：https://doi.org/10.14740/jnr467w。

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