Giant axonal neuropathy / 中华神经科杂志

Giant axonal neuropathy is a rare neurodegenerative disease in children, which is autosomal recessive inheritance. Giant axonal neuropathy is caused by homozygous or compound heterozygous mutation in the gigaxonin gene on chromosome 16q23.2. Giant axonal neuropathy is a chronic polyneuropathy that affects both the peripheral and central nervous systems. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsy are the pathologic hallmark of this neurodegenerative disorder. The article describes the pathogenesis, clinical manifestation, diagnosis and differential diagnosis of giant axonal neuropathy, to provide reference for clinical diagnosis and treatment of this disease.

Pili canaliculi as manifestation of giant axonal neuropathy

Abstract Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.

Application of autologous bone marrow stem cells in giant axonal neuropathy.

Giant axonal neuropathy is a rare disorder of autosomal recessive inheritance, morphologically characterized by accumulation of neurofilaments in enlargements of preterminal regions of central and peripheral axons. We present a 7-year-old girl with thick and tightly curled lackluster hair suffering from giant axonal neuropathy. The diagnosis was confirmed on the brain MRI which showed white matter abnormalities in the anterior and posterior periventricular regions as well as the cerebellar white matter. In view of the same, the patient was given intrathecal autologous bone marrow-derived stem cell therapy as part of the neuroregenerative rehabilitation therapy protocol. The patient showed functional improvements in her disability after receiving the therapy. A detailed case report is presented here with.

Clinical and Genetic Studies on Giant Axonal Neuropathy / 实用儿科临床杂志

A in GAN gene cause the phenotype of GAN in the proband.The girl′s parents are heterozygotes of the disease without symptoms.There may be other mode of inheritance in family 2.