Journal
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Volume 78, Issue 11, Pages 1267-1270Publisher
B M J PUBLISHING GROUP
DOI: 10.1136/jnnp.2007.118968
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Funding
- Medical Research Council [G0601943, G108/638] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
- MRC [G108/638] Funding Source: UKRI
- Medical Research Council [G108/638] Funding Source: researchfish
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Giant axonal neuropathy (GAN; MIM 256850) is a severe childhood onset autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Bomont and colleagues identified a novel ubiquitously expressed gene they named Gigaxonin on chromosome 16q24 as the cause of GAN in a number of families. We analysed five families with GAN for mutations in the Gigaxonin gene and mutations were found in four families; three families had homozygous mutations, one had two compound heterozygous mutations and one family had no mutation identified. All families had the typical clinical features, kinky hair and nerve biopsy. We report some unusual clinical features associated with GAN and Gigaxonin mutations as well as confirm the heterogeneity in GAN and the identification of two families with manifesting carriers.
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