Incecik Faruk, Herguner Ozlem M, Ceylaner Serdar, Zorludemir Suzan, Altunbasak Sakir
Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Division of Pediatric Neurology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Brain Dev. 2015 Sep;37(8):803-7. doi: 10.1016/j.braindev.2014.12.002. Epub 2014 Dec 19.
Giant axonal neuropathy (GAN) is an autosomal recessive inherited progressive motor and sensory neuropathy with typical onset in early childhood. The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN.
Eight children with GAN were retrospectively analyzed. Five (62.5%) were girls and 3 (37.5%) were boys with the mean age on admission 10.13±3.8 years (range: 5-15 years).
Parental consanguinity was found in all the families. The patients had the classical clinical phenotype characterized by a severe axonal neuropathy with kinky hair. Two patients had contractures of extremities, and not walking. One patient was walking with aid. The other patients were walking without aid. Mutation analysis was performed in two patients and IVS9 (+1G>T) (homozygous) mutation was detected.
The classical clinical findings allowed considering the GAN diagnosis, but, in atypical cases and milder phenotypes, the presence of giant axons in nerve biopsy was helpful to specify molecular analysis.
巨轴索神经病（GAN）是一种常染色体隐性遗传性进行性运动和感觉神经病，典型发病于儿童早期。该疾病由16号染色体q24.1上的GAN基因突变引起。旨在确定土耳其GAN患者的临床和基因结果。
对8例GAN患儿进行回顾性分析。5例（62.5%）为女孩，3例（37.5%）为男孩，入院时平均年龄为10.13±3.8岁（范围：5 - 15岁）。
所有家庭均存在父母近亲结婚情况。患者具有典型的临床表型，其特征为严重的轴索性神经病伴卷发。2例患者有肢体挛缩，无法行走。1例患者需借助辅助行走。其他患者可独立行走。对2例患者进行了突变分析，检测到IVS9（+1G>T）（纯合子）突变。
典型的临床发现有助于GAN的诊断，但在非典型病例和较轻表型中，神经活检中巨轴索的存在有助于明确分子分析。
