An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
复制标题
一例 SPG56/CYP2U1 相关痉挛性截瘫的非典型病例，表现为髓鞘形成延迟。
DOI：
10.1038/jhg.2017.77
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Matsumoto N.
中科院分区：
文献类型：
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作者：
Minase G;Miyatake S;Nabatame S;Arai H;Koshimizu E;Mizuguchi T;Nakashima M;Miyake N;Saitsu H;Miyamoto T;Sengoku K;Matsumoto N.
遗传性痉挛性截瘫（HSP）是一种以下肢进行性痉挛和肌无力为特征的神经系统疾病。它分为两个亚型，简单和复杂的形式。细胞色素P450 2U1基因（CYP2U1）的双等位基因突变与痉挛性截瘫56型（SPG56）相关，表现为单纯性和复杂性HSP。伴随的临床特征包括智力残疾、肌张力障碍、小脑共济失调、亚临床周围神经病变、视力障碍以及脑磁共振成像异常。作为一种罕见的临床特征，髓鞘形成延迟以前仅在两名CYP2U1突变患者中报告。在这里，我们报告了一个病人与SPG56与新的复合杂合突变的CYP2U1这是确定了全外显子测序。我们的病人表现出复杂的功能，同时延迟髓鞘形成，扩大了SPG 56的表型谱，并暗示CYP2U1应筛选HSP延迟髓鞘形成。
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging. As a rare clinical feature, delayed myelination has previously been reported in only two patients with CYP2U1 mutations. Here, we report a patient with SPG56 with novel compound heterozygous mutations in CYP2U1 which were identified by whole exome sequencing. Our patient exhibited complex features together with delayed myelination, broadening the phenotypic spectrum of SPG56, and implying that CYP2U1 should be screened in HSP with delayed myelination.