ArticleActa neuropathologica1987
Giant axonal neuropathy. A neuropathological study.
Article in Acta neuropathologica, 1987. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 60 citations in OpenAlex.
- T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN).Muscle & nerve · 2025Article
- Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.Journal of neurology · 2025Article
- Intermediate filament dysregulation in astrocytes in the human disease model ofMolecular biology of the cell · 2023Article
- Intermediate filament dysregulation and astrocytopathy in the human disease model ofbioRxiv : the preprint server for biology · 2023Article
- Genetic Approaches for the Treatment of Giant Axonal Neuropathy.Journal of personalized medicine · 2022Review
- Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens.Orphanet journal of rare diseases · 2019Article
- Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.Journal of the Royal Society, Interface · 2017Article
- The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.Molecular biology of the cell · 2016Article
- Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.Human molecular genetics · 2016Article
- Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.F1000Research · 2014Article
- Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.The Journal of clinical investigation · 2013Article
- Dysfunctions of neuronal and glial intermediate filaments in disease.The Journal of clinical investigation · 2009Review
- 3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy.Journal of magnetic resonance imaging : JMRI · 2008Article
- Giant axonal neuropathy: clinical and genetic study in six cases.Journal of neurology, neurosurgery, and psychiatry · 2005Article
- Demyelination and axonal dystrophy in alpha A-crystallin transgenic mice.International journal of experimental pathology · 2000Article
- Giant axonal neuropathy: report on a case with focal fiber loss.Acta neuropathologica · 1992Article
- Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case.Acta neuropathologica · 1990Article
- Giant axonal neuropathy: observations on a further patient.Journal of neurology, neurosurgery, and psychiatry · 1988Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
Abstract
Giant axonal neuropathy (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by visual impairment, corticospinal tract dysfunction, ataxia, and dementia. Pathological hallmarks of the disease include axonal swellings packed with neurofilaments in both peripheral and central nervous systems, and accumulations of intermediate filaments in Schwann cells, fibroblasts, melanocytes, endothelial, and Langerhans cells. Rosenthal fibers, sometimes appearing in masses and mimicking Alexander's disease, emerge as a conspicuous characteristic in longstanding GAN.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.