Carrascosa-Romero M Carmen, Suela Javier, Alfaro-Ponce Blanca, Cepillo-Boluda Antonio J
Sección de Neuropediatría, Complejo Hospitalario Universitario de Albacete, Madrid, España.
Rev Neurol. 2012 Feb 16;54(4):241-8.
X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close to the pseudo-autosomal region. Depending on its size, it can present as an isolated entity or combined with a syndrome caused by neighbouring genes, thus associating itself with other monogenic diseases as well as other mental disorders. The most relevant findings from the literature review are the importance of the Xp22.3-pter region and the higher incidence of neurological disorders among males (attention deficit hyperactivity disorder, autism and X-linked mental retardation). The role and implication of these genes in the disease are discussed and the authors suggest a possible contribution of the gene PNPLA4, which was originally described as GS2 and codes for calcium-independent phospholipase A2 beta, involved in lipoprotein metabolism, as one of the causes of autism. Improvements have been observed following treatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved in the formation and repair of the neuronal membrane.
X连锁鱼鳞病由位于X染色体短臂远端（Xp22.3-pter）、靠近假常染色体区域的类固醇硫酸酯酶基因（STS）突变或缺失引起，该酶缺乏与该基因相关。根据其大小，它可表现为孤立病症，或与邻近基因引起的综合征合并，从而与其他单基因疾病以及其他精神障碍相关。文献综述中最相关的发现是Xp22.3-pter区域的重要性以及男性神经疾病（注意力缺陷多动障碍、自闭症和X连锁智力迟钝）的较高发病率。讨论了这些基因在疾病中的作用和影响，作者认为最初被描述为GS2且编码参与脂蛋白代谢的钙非依赖性磷脂酶A2β的PNPLA4基因可能是自闭症的病因之一。由于这种益智药在参与神经元膜形成和修复的结构磷脂生物合成中发挥作用，用胞磷胆碱治疗后已观察到病情改善。
