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- Title
Giant Axonal Neuropathy.
- Authors
Hou, Xinyu; Li, Jun; Bian, Jia
- Abstract
This article from Neurology India discusses the case of a 9-year-old girl who was diagnosed with Giant Axonal Neuropathy (GAN). The girl presented with symptoms such as foot valgus, gait instability, and speech impairment. Genetic tests revealed abnormalities in the gigaxonin gene, which are related to her clinical manifestations. Magnetic resonance imaging (MRI) showed lesions in the cerebral white matter, thalamus, dentate nucleus, and cerebellar regions. GAN is an extremely rare neurodegenerative disease that typically leads to death in the second or third decade of life. The main clinical manifestations include ataxia, distal weakness, axonal sensorimotor neuropathy, and curly hair. Medical imaging is important for assessing the extent of brain lesions in GAN patients. The authors of the article obtained appropriate patient consent and declare no conflicts of interest.
- Subjects
NEUROPATHY; DENTATE nucleus; MAGNETIC resonance imaging
- Publication
Neurology India, 2024, Vol 72, Issue 1, p217
- ISSN
0028-3886
- Publication type
Article
- DOI
10.4103/neurol-india.Neurol-India-D-23-00698