ArticleJournal of neurology, neurosurgery, and psychiatry2005
Giant axonal neuropathy: clinical and genetic study in six cases.
Article in Journal of neurology, neurosurgery, and psychiatry, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 57 citations in OpenAlex.
- Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant inGlobal medical genetics · 2026Article
- Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.Acta neuropathologica communications · 2025Article
- Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.Journal of neurology · 2025Article
- A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia.Brain sciences · 2025Review
- Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.Neurogenetics · 2024Article
- Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Article
- A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- 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
- Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.Current journal of neurology · 2020Article
- E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.Frontiers in physiology · 2020Review
- Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.Neurogenetics · 2020Observational
- Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.The Journal of clinical investigation · 2019Article
- Sustained AAV9-mediated expression of a non-self protein in the CNS of non-human primates after immunomodulation.PloS one · 2018Article
- Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2016Article
- A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.Human genetics · 2016Review
- The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.Acta neuropathologica communications · 2014Article
- Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice.Molecular neurodegeneration · 2011Article
- Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.Human molecular genetics · 2009Article
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGiant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease is caused by GAN gene mutations on chromosome 16q24.1.
aimsTo search for GAN gene mutations in Turkish patients with GAN and characterise the phenotype associated with them.
methodsLinkage and mutation analyses were performed in six affected patients from three consanguineous families. These patients were also investigated by cranial magnetic resonance imaging (MRI) and electroencephalography (EEG). Electromyography (EMG) was performed in heterozygous carriers from family 1 and family 3.
resultsLinkage to 16q24.1 was confirmed by haplotype analysis. GAN mutations were identified in all families. Family 1 had the R293X mutation, previously reported in another Turkish family. Families 2 and 3, originating from close geographical areas, shared a novel mutation, 1502+1G>T, at the donor splice site of exon 9. All patients displayed a common phenotype, including peripheral neuropathy, cerebellar ataxia, and frizzly hair. Cranial MRI showed diffuse white matter abnormalities in two patients from family 1 and the patient from family 3, and minimal white matter involvement in the patient from family 2. EMG of a heterozygous R293X mutation carrier showed signs of mild axonal neuropathy, whereas a 1502+1G>T mutation carrier had normal EMG. EEG abnormalities were found in three patients.
conclusionThese findings highlight the association of CNS involvement, in particular white matter abnormalities, with peripheral neuropathy in GAN. The phenotypical consequences of both mutations (when homozygous) were similar.
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