2013--Novel Spg10 Mutation Associated With Dysautonomia, Spinal Cord Atrophy, And Skin Biopsy Abnormality.

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Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.

AuthorsCollongues N, et al. Show all Journal

Eur J Neurol. 2013 Feb;20(2):398-401. doi: 10.1111/j.1468-1331.2012.03803.x. Epub 2012 Jul 12.

Affiliation

Department of Neurology, University of Strasbourg, Strasbourg, France.

Abstract

BACKGROUND: SPG10 is a rare form of autosomic dominant hereditary spastic paraplegia (HSP) caused by mutations in the KIF5A gene, which may be involved in axonal transport.

METHODS: We report the characteristics of a French family with a novel missense mutation c.580 G>C in exon 7 of the KIF5A gene.

RESULTS: The proband and his sister presented with an adult onset HSP, a sensory spinal cord-like syndrome, dysautonomia, and severe axonal polyneuropathy. Contrary to the proband, his sister presented a secondary improvement in spasticity and walking. In the proband, MRI findings consisted in spinal cord atrophy and symmetric cerebral demyelination, whereas the skin biopsy suggested a defect in the number of vesicles and synaptophysin density at the pre-synaptic membrane.

CONCLUSION: This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport.

© 2012 The Author(s) European Journal of Neurology © 2012 EFNS.

PMID 22788249 [PubMed - in process]

Full text: Blackwell Publishing

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SPG10 is a rare cause of spastic paraplegia in European families.