Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. Issue 2 (12th July 2012)

• Record Type: Journal Article
• Authors: Collongues, N.; Depienne, C.; Boehm, N.; Echaniz‐Laguna, A.; Samama, B.; Dürr, A.; Stevanin, G.; Leguern, E.; Brice, A.; Labauge, P.; de, J.
• Is Part Of: European journal of neurology. Volume 20:Issue 2(2013:Feb.)
• Page Start: 398
• Page End: 401
• Publication Date: 2012-07-12
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/j.1468-1331.2012.03803.x
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene3803-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene3803-sec-0001" sec-type="section"> <title>Background</title> <p>SPG10 is a rare form of autosomic dominant hereditary spastic paraplegia (HSP) caused by mutations in the <italic>KIF5A</italic> gene, which may be involved in axonal transport.</p> </sec> <sec id="ene3803-sec-0002" sec-type="section"> <title>Methods</title> <p>We report the characteristics of a French family with a novel missense mutation c.580 G&gt;C in exon 7 of the <italic>KIF5A</italic> gene.</p> </sec> <sec id="ene3803-sec-0003" sec-type="section"> <title>Results</title> <p>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.</p> </sec> <sec id="ene3803-sec-0004" sec-type="section"> <title>Conclusion</title> <p>This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport.</p> </sec> </abstract>