Infantile onset of hereditary spastic paraplegia poorly predicts the genotype
Infantile onset of hereditary spastic paraplegia poorly predicts the genotype
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DOI：
10.1016/j.pediatrneurol.2007.02.003
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发表时间：
2007-06-01
影响因子：
3.8
通讯作者：
Hedera, Peter
中科院分区：
文献类型：
--
作者：
Blair, Marcia A.;Riddle, Megan E.;Hedera, Peter
遗传性痉挛性截瘫症状发作的年龄从婴儿期到80岁不等。没有阳性家族史的遗传性痉挛性截瘫的婴儿发病可能导致难以获得正确诊断和误诊，因为脑瘫的双瘫形式是特别常见的。由痉挛蛋白基因（SPAST）突变引起的遗传性痉挛性截瘫的婴儿发病非常罕见，以前主要与该基因的共显性突变有关。我们报道了一个连续三代由SPAST新发突变1537G> a （G471D）引起的婴儿期痉挛性截瘫的亲属。几个家庭成员之前被诊断患有脑瘫。遗传性痉挛性截瘫的婴儿发病可能是由多个基因突变引起的，这种表型不能可靠地预测基因型。小儿神经科医生需要意识到遗传性痉挛性截瘫基因中相对频繁的新生突变，以及这种情况在没有阳性家族史的婴儿期出现的可能性。(c) 2007年Elsevier Inc.版权所有。
Age of symptom onset of hereditary spastic paraplegia varies from infancy to the eighth decade. Infantile onset of hereditary spastic paraplegia without a positive family history may cause difficulties in reaching the correct diagnosis and misdiagnosis as a diplegic form of cerebral palsy is particularly common. Infantile onset of hereditary spastic paraplegia caused by mutations in the spastin gene (SPAST) is very rare and previously was mostly associated with codominant mutations in this gene. We present a kindred with infantile onset of spastic paraplegia in three successive generations caused by confirmed de novo novel mutation 1537G>A (G471D) in SPAST. Several family members were previously diagnosed as having cerebral palsy. Infantile onset of hereditary spastic paraplegia may be caused by mutations in multiple genes, and this phenotype does not reliably predict the genotype. Pediatric neurologists need to be aware of relatively frequent de novo mutations in hereditary spastic paraplegia genes and a possibility that this condition presents in infancy without a positive family history. (c) 2007 by Elsevier Inc. All rights reserved.