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. 1988 Jul;51(7):991–994. doi: 10.1136/jnnp.51.7.991

Giant axonal neuropathy: observations on a further patient.

M Donaghy 1, E M Brett 1, I E Ormerod 1, R H King 1, P K Thomas 1
PMCID: PMC1033207  PMID: 2849642

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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