ArticleAnnals of Indian Academy of Neurology
Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant inGlobal medical genetics · 2026Article
- 소아 신경영상에서 보이는 비선천성 원인의 영상 소견: 임상 화보.Journal of the Korean Society of Radiology · 2026Review
- PathogenicHuman mutation · 2026Article
- Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.Neurogenetics · 2024Article
- Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.Molecular genetics & genomic medicine · 2023Review
- Genetic Approaches for the Treatment of Giant Axonal Neuropathy.Journal of personalized medicine · 2022Review
- Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.Molecular biology reports · 2021Article
- Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.Scientific reports · 2020Article
- Normative Observational Nerve Ultrasound Values in School-Age Children and Adolescents and Their Application to Hereditary Neuropathies.Frontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionGiant axonal neuropathy (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and genetic features in three new unrelated patients with GAN.
methodsThree pediatric patients with suspected GAN were included. The diagnosis was considered in patients with early onset polyneuropathy and characteristic hair with central nervous system involvement or suggestive neuroimaging findings. Biochemical, metabolic and electrophysiological investigations were performed. Diagnosis was confirmed by targeted sequencing of the GAN gene.
resultsAll the three patients were found to have biallelic mutations in GAN gene. Peripheral neuropathy, characteristic hair, and cerebellar dysfunction were present in all three while bony deformities, cranial nerve involvement and intellectual disability were seen variably. Neuroimaging showed a spectrum of findings which are discussed.
conclusionGAN is a clinically and radiologically heterogeneous disease where genetic testing is necessary for a definite diagnosis and counselling. With facilities for testing becoming increasingly available, the spectrum is likely to expand further.
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