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Giant Axonal Neuropathy Caused by a Novel Compound Heterozygous Mutation in the Gigaxonin Gene

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收录情况： ◇ SCIE

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机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China

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关键词： genetic giant axonal neuropathy pathology gigaxonin

摘要：

Giant axonal neuropathy is a rare autosomal recessive disorder, which typically involves both central and peripheral nervous system. Yet the phenotypic-genotypic correlation remains obscure. We report a novel compound heterozygous mutation with the c. 805C>T in exon 4(Arg545His missense mutation) and the c. 1634G>A in exon 11(Arg269Trp missense mutation) in an 11-year-old Chinese giant axonal neuropathy case. This patient had an atypical giant axonal neuropathy phenotype rather similar to Charcot-Marie-Tooth disease, without tightly curled hair and mental retardation. The patient had a slowly progressive sensory motor neuropathy since age 3 years, and she also had nystagmus, feet deformities, scoliosis, and cerebellar tonsillar protrusion. Electrophysiological studies indicated a predominantly axonal sensory-motor neuropathy. The diagnosis was confirmed by sural nerve biopsy and direct sequencing of all the 11 gigaxonin exons. The proband's parents are heterozygotes of the disease without symptoms. Our findings extend the number of gigaxonin mutations that cause giant axonal neuropathy.

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出版当年[2012]版：

大类 | 4 区医学

小类 | 3 区儿科 4 区临床神经病学

最新[2023]版：

大类 | 4 区医学

小类 | 4 区临床神经病学 4 区儿科

JCR分区：

出版当年[2011]版：

Q2 PEDIATRICS Q3 CLINICAL NEUROLOGY

最新[2023]版：

Q2 PEDIATRICS Q3 CLINICAL NEUROLOGY

影响因子： 2 最新[2023版] 2.1 最新五年平均 1.748 出版当年[2011版] 1.821 出版当年五年平均 1.668 出版前一年[2010版] 1.385 出版后一年[2012版]

第一作者：

第一作者机构： [1]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China [*1]Department of Neurology, Xuanwu Hospital, Capital Medical University, No. 45, Changchun Street, Xicheng District, Beijing 100053, China.

通讯作者：

通讯机构： [*1]Department of Neurology, Xuanwu Hospital, Capital Medical University, No. 45, Changchun Street, Xicheng District, Beijing 100053, China.

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