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Case Report: Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues

机译：病例报告：巨大的轴索神经病：一种罕见的遗传性神经病，具有简单的临床线索

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Giant axonal neuropathy (GAN) is a rare hereditary neurodegenerative disorder characterised by accumulation of excess neurofilaments in the axons of peripheral and central nervous systems, which hampers signal transmission. It usually manifests in infancy and early childhood and is slowly progressive. Those affected with GAN have characteristic curly kinky hair, everted feet and a crouched gait, which suggest the diagnosis in most cases. We describe twin children who presented with difficulty in walking and an abnormal gait since they began walking; clinical clues such as hair changes led us to the final diagnosis.

机译：巨轴索神经病（GAN）是一种罕见的遗传性神经退行性疾病，其特征是周围神经系统和中枢神经系统轴突中积累了过多的神经丝，从而阻碍了信号传递。它通常表现在婴儿期和儿童早期，并逐渐进展。那些受GAN影响的患者具有特征性的卷发，弯曲的脚和蹲伏的步态，这在大多数情况下提示诊断。我们描述了双胞胎孩子，因为他们从走路开始就表现出行走困难和步态异常。诸如头发变化的临床线索使我们做出了最终诊断。

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期刊名称 BMJ Case Reports
作者
Mahesh Kamate; Shashikala Ramakrishna; Shweta Kambali; Anita Mahadevan;
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年(卷),期 1929(2014),
年度 1929
页码 bcr2014204481
总页数 4
原文格式 PDF
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专利

1. Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India. [J] . Nalini A, Gayathri N, Yasha TC European journal of medical genetics . 2008,第5期

机译：来自巨大轴突神经病（GAN）的两个兄弟姐妹的临床，病理和分子发现：印度的报告。
2. Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene. [J] . Buysse K, Vergult S, Mussche S, American journal of medical genetics, Part A . 2010,第11期

机译：由GAN基因内的母体遗传微缺失和父本突变引起的复合杂合性引起的巨大轴突神经病。
3. The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy [J] . Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2020,第期

机译：GaN中稀有肝癌多种综合复合序列的罕见Alus元素介导的逆变性巨型轴突神经病变
4. COMPARISON OF CLINICAL EFFECTIVENESS OF LASER ACUPUNCTURE AND AMITRYTALINE IN DIABETIC PERIPHERAL NEUROPATHY (DPN) A SHAM CONTROLED RANDOMIZED CLINICAL TRIAL [C] . Imran Hassan Khan, Shahzad Anwar, Asif Hanif, Mechanisms for low-light therapy IX . 2014

机译：激光控制与阿米替林在糖尿病周围神经病变（DPN）控制的随机临床试验中的临床疗效比较
5. The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-associated myelination in hereditary neuropathies: Studies on nerve xenografts. [D] . Sahenk, Zarife. 1998

机译：突变的雪旺细胞对遗传性神经病中轴突细胞骨架和再生相关的髓鞘形成的影响：神经异种移植的研究。
6. Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy [O] . Lori Sames, Allison Moore, Renee Arnold, -1

机译：关于遗传性神经病药物开发的建议：Charcot-Marie-Tooth和巨型轴突神经病
7. Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy [O] . Lori Sames, Allison Moore, Renee Arnold, 2014

机译：为遗传性神经病变能够为药物开发提供建议：Charcot-Marie-Tooth和Giant Axonal神经病变

Case Report: Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues

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