ArticleJournal of neurology, neurosurgery, and psychiatry1988
Giant axonal neuropathy: observations on a further patient.
Article in Journal of neurology, neurosurgery, and psychiatry, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 26 citations in OpenAlex.
- Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.Acta neuropathologica communications · 2025Article
- Giant axonal neuropathy: clinical and genetic study in six cases.Journal of neurology, neurosurgery, and psychiatry · 2005Article
- 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
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A further child with giant axonal neuropathy (GAN), abnormally curly hair and consanguineous parents is described. Of the 19 patients with GAN so far reported in the literature, six, including the present patient, have resulted from consanguineous marriages. This makes autosomal recessive inheritance of GAN highly probable. Our patient also exhibited cerebellar ataxia and signs of pyramidal tract damage; magnetic resonance brain imaging demonstrated abnormalities within the cerebellar and cerebral white matter. Myelinated nerve fibre density in the sural nerve was reduced to 6790/mm2 at age 8 years and had fallen to 3812/mm2 16 months later, indicating that progressive axonal loss occurs in 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.