Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
Eur J Neurol. 2012-07-12; 20(2): 398-401
DOI: 10.1111/j.1468-1331.2012.03803.x
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1. Eur J Neurol. 2013 Feb;20(2):398-401. doi: 10.1111/j.1468-1331.2012.03803.x. Epub
2012 Jul 12.
Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin
biopsy abnormality.
Collongues N(1), Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Dürr A,
Stevanin G, Leguern E, Brice A, Labauge P, de Seze J.
Author information:
(1)Department of Neurology, University of Strasbourg, Strasbourg, France.
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.
DOI: 10.1111/j.1468-1331.2012.03803.x
PMID: 22788249 [Indexed for MEDLINE]