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dc.contributor.authorBursle, C
dc.contributor.authorRiney, K
dc.contributor.authorStringer, J
dc.contributor.authorMoore, D
dc.contributor.authorGole, G
dc.contributor.authorKearns, LS
dc.contributor.authorMackey, DA
dc.contributor.authorComan, D
dc.date.accessioned2019-07-04T12:35:43Z
dc.date.available2019-07-04T12:35:43Z
dc.date.issued2018
dc.identifier.issn2192-8304
dc.identifier.doi10.1007/8904_2017_79
dc.identifier.urihttp://hdl.handle.net/10072/384766
dc.description.abstractLeber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications. The m.14484T>C mutation is a common LHON mutation, but the m.4160T>C mutation is to our knowledge not reported outside this family and appears to drive the neurological manifestations. To our knowledge there have been no previous reports of spinal cord lesions in children with LHON.
dc.description.peerreviewedYes
dc.publisherSpringer
dc.relation.ispartofpagefrom53
dc.relation.ispartofpageto60
dc.relation.ispartofjournalJournal of Inherited Metabolic Disease Reports
dc.relation.ispartofvolume42
dc.subject.fieldofresearchBiomedical and clinical sciences
dc.subject.fieldofresearchcode32
dc.titleLeber hereditary optic neuropathy and longitudinally extensive transverse myelitis
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorComan, Dave J.


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