巨轴索神经病（GAN）：病例报告及在发动蛋白基因中的两个新突变
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
作者信息
Kuhlenbäumer G, Young P, Oberwittler C, Hünermund G, Schirmacher A, Domschke K, Ringelstein B, Stögbauer F
机构信息
Department of Neurology, University of Münster, Germany.
出版信息
Neurology. 2002 Apr 23;58(8):1273-6. doi: 10.1212/wnl.58.8.1273.
Giant axonal neuropathy (GAN) is an autosomal recessive neurologic disorder clinically characterized by a severe polyneuropathy, CNS abnormalities, and characteristic tightly curled hair. Recently, mutations in the gigaxonin gene have been identified as the underlying genetic defect. The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.
巨大轴索神经病（GAN）是一种常染色体隐性神经疾病，临床特征为严重的多发性神经病、中枢神经系统异常以及特征性的紧密卷曲毛发。最近，已确定巨轴素基因的突变是潜在的遗传缺陷。作者报告了两个新的突变，证实GAN是由巨轴素基因突变引起的，并提出了一些突变是否可能导致轻度亚临床神经病的问题。
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