Recently, Vaz et al. reported four families with complex hereditary spastic paraplegia (cHSP) and biallelic variants in PCYT2 encoding CTP: phosphoethanolamine cytidylyltransferase (ET), the rate-limiting enzyme for phosphatidylethanolamine biosynthesis. Patient-derived fibroblasts and plasma had significant abnormalities in both neutral etherlipid and etherphospholipid metabolism (Vaz et al., 2019). We wish to broaden the phenotypic and genetic spectrum of PCYT2-related disorders with two additional patients. Clinical features are detailed in Table 1.

中文翻译：

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扩大PCYT2相关疾病的临床和遗传谱。

最近，Vaz等。报道了四个家族，其中复杂的遗传性痉挛性截瘫（cHSP）和PCYT2编码CTP的双等位基因变异：磷酸乙醇胺胞苷转移酶（ET），这是磷脂酰乙醇胺生物合成的限速酶。患者来源的成纤维细胞和血浆在中性醚脂质和醚磷脂代谢中均具有明显异常（Vaz等人，2019）。我们希望通过另外两名患者来拓宽与PCYT2相关的疾病的表型和遗传谱。临床特征详见表1。