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首页> 外文期刊>Acta neurologica Scandinavica. >CYP7B1: Novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A
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CYP7B1: Novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A

机译：CYP7B1：5A型遗传性痉挛性截瘫的新型突变和磁共振波谱学异常

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摘要

The SPG5A subtype of Hereditary Spastic Paraplegia (HSP) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CYP7B1 gene, which encodes a steroid cytochrome P450 7α-hydroxylase. This enzyme provides the primary metabolic route for neurosteroids. Clinically, SPG5A has been characterized as a pure form of HSP with a variable age of onset, but recently a broader spectrum of phenotypes has been described. Objective: This study characterizes four unrelated SPG5A patients through clinical evaluation. Methods: The investigations included blood biochemistry, electrophysiology, brain MRI and MR spectroscopy. Results: One patient had saccadic pursuit eye movements in addition to a pure HSP phenotype. Motor evoked potential (MEP) examinations revealed prolonged central conduction time. MRI of the brain showed white matter hyperintensities (WMH) in one patient. MRS showed elevated mI/Cr ratio in white matter in two patients; in the one patient with WMH and in one patient with normal MRI. Four novel mutations were identified; one frameshift (c.509 delT p.L170fs), one premature stop codon (c.334 C>T p.R112X), one amino acid changing (c.440 G>A p.G147D) and one duplication (c.945_947 dupGGC p.A316AA). Conclusion: SPG5A could be characterized as a predominantly pure HSP. MRS showing elevated mI/Cr ratio in the white matter may be indicative of SPG5A.
机译：SPG5A亚型是遗传性痉挛性截瘫（HSP），是一种罕见的常染色体隐性神经退行性疾病，由CYP7B1基因突变引起，该基因编码类固醇细胞色素P4507α-羟化酶。该酶为神经甾体提供了主要的代谢途径。在临床上，SPG5A已被表征为具有可变发病年龄的单纯HSP形式，但最近已描述了更广泛的表型范围。目的：本研究通过临床评估来表征四名无关的SPG5A患者。方法：调查包括血液生化，电生理，脑MRI和MR光谱。结果：除单纯的HSP表型外，一名患者还进行了眼球追踪运动。运动诱发电位（MEP）检查显示中心传导时间延长。大脑的MRI显示一名患者出现白质高信号（WMH）。 MRS显示两名患者的白质中mI / Cr比升高;一名WMH患者和一名MRI正常的患者。确定了四个新的突变;一个移码（c.509 delT p.L170fs），一个提前终止密码子（c.334 C> T p.R112X），一个氨基酸改变（c.440 G> A p.G147D）和一个重复（c.945_947） dupGGC p.A316AA）。结论：SPG5A可以被鉴定为主要是纯HSP。显示白质中mI / Cr比升高的MRS可能表明SPG5A。

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